Variant report

Variant	nsv899577
Chromosome Location	chr12:123435248-123484474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2823)
CpG islands
(count:5007)
Chromatin interactive
region (count:122)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2823 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123465167-123465328	K562	blood:	n/a	n/a
2	ARID3A	chr12:123460562-123460690	K562	blood:	n/a	n/a
3	ARID3A	chr12:123458804-123459447	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123446328-123446528	K562	blood:	n/a	n/a
5	ARID3A	chr12:123458964-123459842	K562	blood:	n/a	n/a
6	ATF1	chr12:123446314-123446559	K562	blood:	n/a	n/a
7	ATF1	chr12:123458850-123459920	K562	blood:	n/a	n/a
8	ATF2	chr12:123458863-123459986	GM12878	blood:	n/a	n/a
9	ATF2	chr12:123464923-123465582	GM12878	blood:	n/a	n/a
10	ATF2	chr12:123465071-123465478	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr12:123465089-123465302	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123477732-123478417	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123458989-123459827	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr12:123477871-123478411	GM12878	blood:	n/a	n/a
15	ATF2	chr12:123458959-123459565	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr12:123458989-123459914	GM12878	blood:	n/a	n/a
17	ATF3	chr12:123464881-123465436	A549	lung:	n/a	chr12:123465343-123465352
18	ATF3	chr12:123459034-123459401	K562	blood:	n/a	n/a
19	ATF3	chr12:123458842-123459971	A549	lung:	n/a	chr12:123459623-123459631
20	ATF3	chr12:123459065-123459319	K562	blood:	n/a	n/a
21	ATF3	chr12:123458966-123459954	A549	lung:	n/a	chr12:123459623-123459631
22	ATF3	chr12:123464953-123465412	A549	lung:	n/a	chr12:123465343-123465352
23	BACH1	chr12:123451197-123451540	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr12:123460498-123460756	K562	blood:	n/a	n/a
25	BACH1	chr12:123459283-123459577	K562	blood:	n/a	n/a
26	BACH1	chr12:123450798-123450883	K562	blood:	n/a	n/a
27	BATF	chr12:123477739-123478378	GM12878	blood:	n/a	n/a
28	BATF	chr12:123465031-123465260	GM12878	blood:	n/a	n/a
29	BATF	chr12:123477946-123478402	GM12878	blood:	n/a	n/a
30	BATF	chr12:123459124-123459414	GM12878	blood:	n/a	n/a
31	BATF	chr12:123435931-123436247	GM12878	blood:	n/a	n/a
32	BATF	chr12:123436523-123437162	GM12878	blood:	n/a	n/a
33	BCL11A	chr12:123477972-123478381	GM12878	blood:	n/a	chr12:123478340-123478349
34	BCL3	chr12:123464670-123465555	GM12878	blood:	n/a	n/a
35	BCL3	chr12:123464265-123465507	A549	lung:	n/a	n/a
36	BCL3	chr12:123436632-123437430	A549	lung:	n/a	n/a
37	BCL3	chr12:123477979-123478370	GM12878	blood:	n/a	chr12:123478340-123478349
38	BCL3	chr12:123450608-123450980	A549	lung:	n/a	chr12:123450672-123450685
39	BCL3	chr12:123458903-123460338	A549	lung:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
40	BCL3	chr12:123478021-123478328	GM12878	blood:	n/a	n/a
41	BCL3	chr12:123463944-123465539	A549	lung:	n/a	n/a
42	BCL3	chr12:123458710-123460669	A549	lung:	n/a	chr12:123459218-123459227 chr12:123459302-123459311 chr12:123460436-123460444
43	BCLAF1	chr12:123458869-123459501	GM12878	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
44	BCLAF1	chr12:123458867-123459575	K562	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
45	BCLAF1	chr12:123464608-123465573	GM12878	blood:	n/a	n/a
46	BCLAF1	chr12:123477810-123478340	GM12878	blood:	n/a	n/a
47	BCLAF1	chr12:123464892-123465415	GM12878	blood:	n/a	n/a
48	BCLAF1	chr12:123464959-123465442	K562	blood:	n/a	n/a
49	BCLAF1	chr12:123458772-123460049	GM12878	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
50	BCLAF1	chr12:123477931-123478415	GM12878	blood:	n/a	chr12:123478340-123478349

(count:5007 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123459152-123459202	H1-hESC	embryonic stem cell:	embryo
2	chr12:123464511-123464561	SK-N-SH	brain:	n/a
3	chr12:123459241-123459291	SK-N-SH	brain:	n/a
4	chr12:123459820-123459870	AG09309	skin:	n/a
5	chr12:123444284-123444334	HRE	kidney:	n/a
6	chr12:123459152-123459202	H1-hESC	embryonic stem cell:	embryo
7	chr12:123464511-123464561	SK-N-SH	brain:	n/a
8	chr12:123459241-123459291	SK-N-SH	brain:	n/a
9	chr12:123459820-123459870	AG09309	skin:	n/a
10	chr12:123444284-123444334	HRE	kidney:	n/a
11	chr12:123471054-123471104	H1-hESC	embryonic stem cell:	embryo
12	chr12:123477107-123477157	Hela-S3	cervix:	n/a
13	chr12:123476380-123476430	Jurkat	blood:	n/a
14	chr12:123463006-123463056	IMR90	lung:	fetal
15	chr12:123476380-123476430	SK-N-MC	brain:	n/a
16	chr12:123477107-123477157	NH-A	brain:	n/a
17	chr12:123444094-123444144	SK-N-SH_RA	brain:	n/a
18	chr12:123473974-123474024	PrEC	prostate:	n/a
19	chr12:123472844-123472894	AoSMC	blood vessel:	n/a
20	chr12:123450216-123450266	HCPEpiC	choroid plexus:	n/a
21	chr12:123459295-123459345	NH-A	brain:	n/a
22	chr12:123469669-123469719	HRE	kidney:	n/a
23	chr12:123460159-123460209	Hela-S3	cervix:	n/a
24	chr12:123451108-123451158	A549	lung:	n/a
25	chr12:123482002-123482052	H1-hESC	embryonic stem cell:	embryo
26	chr12:123460194-123460244	PFSK-1	brain:	n/a
27	chr12:123481960-123482010	ovcar-3	ovarian:	n/a
28	chr12:123477123-123477173	HRE	kidney:	n/a
29	chr12:123463530-123463580	Hepatocyte	liver:	n/a
30	chr12:123459163-123459213	HCT-116	colon:	n/a
31	chr12:123467390-123467440	RPTEC	kidney:	n/a
32	chr12:123460159-123460209	GM12892	blood:	n/a
33	chr12:123468780-123468830	GM12891	blood:	n/a
34	chr12:123468780-123468830	HRCEpiC	kidney:	n/a
35	chr12:123468780-123468830	NHDF-neo	bronchial:	n/a
36	chr12:123456851-123456901	SK-N-MC	brain:	n/a
37	chr12:123464150-123464200	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:123459820-123459870	U87	brain:	n/a
39	chr12:123459152-123459202	RPTEC	kidney:	n/a
40	chr12:123459832-123459882	AoSMC	blood vessel:	n/a
41	chr12:123471014-123471064	LNCaP	prostate:	n/a
42	chr12:123459168-123459218	SK-N-SH	brain:	n/a
43	chr12:123476443-123476493	SKMC	muscle:	n/a
44	chr12:123469507-123469557	LNCaP	prostate:	n/a
45	chr12:123463530-123463580	HL-60	blood:	n/a
46	chr12:123459818-123459868	AG04449	skin:	fetal
47	chr12:123464932-123464982	K562	blood:	n/a
48	chr12:123471521-123471571	AG09309	skin:	n/a
49	chr12:123463405-123463455	AG10803	skin:	n/a
50	chr12:123464511-123464561	GM19239	blood:	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
2	chr12:123458067..123461017-chr12:123715728..123717607,2	MCF-7	breast:
3	chr12:123277944..123278843-chr12:123436966..123437523,2	K562	blood:
4	chr12:123352169..123352839-chr12:123436532..123437356,4	MCF-7	breast:
5	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
6	chr12:123479655..123480155-chr17:61851261..61851888,2	MCF-7	breast:
7	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:
8	chr12:123344516..123345436-chr12:123436080..123437135,3	MCF-7	breast:
9	chr12:123474530..123476275-chr12:123483617..123485746,2	K562	blood:
10	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
11	chr12:123341647..123346113-chr12:123465146..123467618,4	K562	blood:
12	chr12:123448459..123450718-chr12:123723367..123726106,2	K562	blood:
13	chr12:123444883..123447117-chr12:123541287..123543838,2	MCF-7	breast:
14	chr12:123341218..123343418-chr12:123435392..123437282,2	MCF-7	breast:
15	chr12:123345343..123346928-chr12:123463907..123466458,2	MCF-7	breast:
16	chr12:123443368..123448710-chr12:123448756..123452152,6	MCF-7	breast:
17	chr12:123469032..123471248-chr12:123684974..123687831,2	K562	blood:
18	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
19	chr12:123342536..123343202-chr12:123436624..123437128,3	MCF-7	breast:
20	chr12:123355640..123358495-chr12:123449218..123452212,2	MCF-7	breast:
21	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:
22	chr12:57912351..57915137-chr12:123457151..123459849,2	MCF-7	breast:
23	chr12:123351930..123352762-chr12:123436973..123437518,2	MCF-7	breast:
24	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
25	chr12:123442313..123444976-chr12:123717456..123719233,2	K562	blood:
26	chr12:123449332..123452871-chr12:123717386..123719515,4	K562	blood:
27	chr12:123468264..123470538-chr12:123712723..123715235,2	MCF-7	breast:
28	chr12:123472287..123474627-chr12:123497209..123499619,2	K562	blood:
29	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
30	chr12:120728398..120730404-chr12:123459731..123462257,2	MCF-7	breast:
31	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
32	chr12:123374002..123376738-chr12:123462505..123465359,2	MCF-7	breast:
33	chr12:123354937..123357622-chr12:123439392..123442120,2	MCF-7	breast:
34	chr12:123009242..123011639-chr12:123463173..123465225,2	K562	blood:
35	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
36	chr12:123445391..123447327-chr12:123634369..123636848,2	K562	blood:
37	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
38	chr12:123436728..123438817-chr12:123451024..123452828,2	MCF-7	breast:
39	chr12:123343068..123345101-chr12:123464542..123466196,2	MCF-7	breast:
40	chr12:123428831..123431560-chr12:123448558..123451555,2	K562	blood:
41	chr12:123379351..123381888-chr12:123445656..123447489,2	MCF-7	breast:
42	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:
43	chr12:123349951..123350563-chr12:123436556..123437356,2	MCF-7	breast:
44	chr12:123345450..123347445-chr12:123435441..123437142,2	K562	blood:
45	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
46	chr12:123349459..123352177-chr12:123465556..123468107,2	K562	blood:
47	chr12:123468360..123468894-chr5:1799414..1799925,2	NB4	blood:
48	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
49	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
50	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OGFOD2-1	chr12:123467016-123467085	NR_103512
2	lnc-OGFOD2-1	chr12:123465676-123466426	NONHSAT031551
3	lnc-OGFOD2-1	chr12:123465703-123465846	NONHSAT031556
4	lnc-OGFOD2-1	chr12:123465676-123465813	NONHSAT031554
5	lnc-OGFOD2-1	chr12:123467167-123467461	NONHSAT031554
6	lnc-OGFOD2-1	chr12:123465263-123465359	NONHSAT031554
7	lnc-OGFOD2-1	chr12:123466203-123466356	NR_103512
8	lnc-OGFOD2-1	chr12:123466504-123467085	NONHSAT031551
9	lnc-OGFOD2-1	chr12:123467167-123467453	NONHSAT031551
10	lnc-OGFOD2-1	chr12:123464607-123465292	NR_103512
11	lnc-OGFOD2-1	chr12:123466578-123466621	NR_103512
12	lnc-OGFOD2-1	chr12:123467167-123467460	NR_103512
13	lnc-OGFOD2-1	chr12:123466143-123466268	NONHSAT031556
14	lnc-OGFOD2-1	chr12:123465676-123465846	NR_103512
15	lnc-OGFOD2-1	chr12:123465229-123465292	NONHSAT031551

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	OGFOD2	hsa-miR-124-3p	chr12:123464489-123464511

Variant related genes	Relation type
ENSG00000256028	TF binding region
OGFOD2	TF binding region
ARL6IP4	TF binding region
ABCB9	TF binding region
ENSG00000256028	CpG island
OGFOD2	CpG island
ARL6IP4	CpG island
ABCB9	CpG island
ENSG00000175197	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000180900	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000271784	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000138768	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000172315	chromatin interactions

Extended variants
information (count: 1959 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11060946	chr12:123435248-123435249	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376136530	chr12:123435257-123435258	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574852315	chr12:123435284-123435285	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368909603	chr12:123435286-123435287	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572376070	chr12:123435320-123435321	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs150649079	chr12:123435368-123435369	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs138960526	chr12:123435377-123435378	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532772775	chr12:123435403-123435404	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs550967397	chr12:123435434-123435435	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs541412899	chr12:123435437-123435438	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs142183542	chr12:123435440-123435441	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189375032	chr12:123435468-123435469	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540404225	chr12:123435499-123435500	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs566873327	chr12:123435527-123435528	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs534032380	chr12:123435596-123435597	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564463744	chr12:123435604-123435605	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs180991056	chr12:123435609-123435610	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552507227	chr12:123435698-123435699	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs571338481	chr12:123435710-123435711	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs185664366	chr12:123435739-123435740	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs369469703	chr12:123435787-123435788	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs556762135	chr12:123435788-123435789	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs542524573	chr12:123435876-123435877	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554098340	chr12:123435895-123435896	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs572543468	chr12:123435914-123435915	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs539934569	chr12:123435920-123435921	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs201819884	chr12:123435953-123435954	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs565017661	chr12:123435971-123435972	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs532127199	chr12:123436020-123436021	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs139758727	chr12:123436065-123436066	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs35841632	chr12:123436069-123436070	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs578149389	chr12:123436100-123436101	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs149658932	chr12:123436111-123436112	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs543887967	chr12:123436152-123436153	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs373744456	chr12:123436348-123436349	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs548947837	chr12:123436369-123436370	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs566863138	chr12:123436486-123436487	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs527720659	chr12:123436524-123436525	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371692525	chr12:123436534-123436535	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570899360	chr12:123436566-123436567	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537972854	chr12:123436582-123436583	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556700488	chr12:123436586-123436587	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs565789299	chr12:123436624-123436625	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs568716733	chr12:123436643-123436644	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs563892389	chr12:123436648-123436649	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs117180633	chr12:123436662-123436663	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs35001861	chr12:123436697-123436698	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs144449913	chr12:123436708-123436709	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs148411858	chr12:123436729-123436730	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs529473956	chr12:123436802-123436803	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3071 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
2	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:123417400-123441800	Weak transcription	Ovary	ovary
6	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
7	chr12:123429600-123444000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:123429800-123435600	Strong transcription	Fetal Brain Female	brain
9	chr12:123429800-123436400	Strong transcription	Fetal Stomach	stomach
10	chr12:123429800-123444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:123430000-123441800	Weak transcription	Fetal Brain Male	brain
12	chr12:123431800-123439600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123432000-123436000	Weak transcription	HepG2	liver
14	chr12:123432000-123439800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123432000-123444000	Weak transcription	Thymus	Thymus
16	chr12:123432200-123435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:123432200-123435600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:123432200-123435800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:123432200-123436400	Weak transcription	HSMMtube	muscle
20	chr12:123432200-123439600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:123432200-123441800	Weak transcription	Right Ventricle	heart
22	chr12:123432200-123444200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:123432200-123446000	Weak transcription	Right Atrium	heart
24	chr12:123432200-123446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:123432200-123446000	Weak transcription	K562	blood
26	chr12:123432200-123450000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:123432200-123450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:123432400-123435600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:123432400-123435800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:123432400-123435800	Weak transcription	A549	lung
31	chr12:123432400-123436000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:123432400-123436000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:123432400-123436000	Weak transcription	NH-A	brain
34	chr12:123432400-123436000	Weak transcription	NHLF	lung
35	chr12:123432400-123436200	Weak transcription	NHDF-Ad	bronchial
36	chr12:123432400-123436400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:123432400-123436600	Weak transcription	Fetal Thymus	thymus
38	chr12:123432400-123436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:123432400-123439600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:123432400-123444200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:123432400-123444200	Weak transcription	Pancreas	Pancrea
42	chr12:123432400-123448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:123432400-123449600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:123432400-123450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:123432600-123435400	Weak transcription	NHEK	skin
46	chr12:123432600-123435600	Weak transcription	HUVEC	blood vessel
47	chr12:123432600-123436000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123432600-123436000	Weak transcription	GM12878-XiMat	blood
49	chr12:123432600-123436200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:123432600-123436600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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