Variant report

Variant	nsv997486
Chromosome Location	chr3:20006702-20113989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2140)
CpG islands
(count:1100)
Chromatin interactive
region (count:120)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

(count:2140 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20063992-20065045	K562	blood:	n/a	n/a
2	ARID3A	chr3:20096000-20096345	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20065245-20065546	K562	blood:	n/a	n/a
4	ARID3A	chr3:20079145-20079315	K562	blood:	n/a	n/a
5	ARID3A	chr3:20081499-20081651	K562	blood:	n/a	n/a
6	ARID3A	chr3:20008657-20009619	K562	blood:	n/a	n/a
7	ARID3A	chr3:20102456-20102678	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:20043611-20043819	K562	blood:	n/a	n/a
9	ARID3A	chr3:20083156-20083470	K562	blood:	n/a	n/a
10	ARID3A	chr3:20082402-20082577	K562	blood:	n/a	n/a
11	ARID3A	chr3:20056175-20056432	K562	blood:	n/a	n/a
12	ARID3A	chr3:20057080-20057584	K562	blood:	n/a	n/a
13	ARID3A	chr3:20080060-20080685	K562	blood:	n/a	n/a
14	ATF1	chr3:20057033-20057364	K562	blood:	n/a	n/a
15	ATF1	chr3:20064360-20065076	K562	blood:	n/a	n/a
16	ATF1	chr3:20092738-20093002	K562	blood:	n/a	n/a
17	ATF2	chr3:20081302-20081776	GM12878	blood:	n/a	n/a
18	ATF2	chr3:20082866-20083368	GM12878	blood:	n/a	n/a
19	ATF3	chr3:20095922-20096535	A549	lung:	n/a	n/a
20	ATF3	chr3:20008679-20009000	K562	blood:	n/a	n/a
21	ATF3	chr3:20052769-20053055	K562	blood:	n/a	n/a
22	ATF3	chr3:20095973-20096523	HCT-116	colon:	n/a	n/a
23	ATF3	chr3:20096028-20096490	A549	lung:	n/a	n/a
24	ATF3	chr3:20092643-20092877	K562	blood:	n/a	chr3:20092813-20092828
25	ATF3	chr3:20064284-20064746	K562	blood:	n/a	n/a
26	BACH1	chr3:20035994-20036063	K562	blood:	n/a	n/a
27	BATF	chr3:20098688-20099122	GM12878	blood:	n/a	chr3:20098865-20098876
28	BATF	chr3:20096097-20096464	GM12878	blood:	n/a	chr3:20096331-20096341 chr3:20096284-20096294
29	BATF	chr3:20098660-20098987	GM12878	blood:	n/a	chr3:20098865-20098876
30	BATF	chr3:20090142-20090441	GM12878	blood:	n/a	n/a
31	BCL11A	chr3:20098689-20099052	GM12878	blood:	n/a	n/a
32	BCL3	chr3:20081817-20082483	GM12878	blood:	n/a	chr3:20081920-20081929 chr3:20081923-20081932 chr3:20081917-20081926 chr3:20081918-20081931 chr3:20082391-20082404 chr3:20081916-20081929
33	BCL3	chr3:20081163-20081784	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
34	BCL3	chr3:20095806-20096557	A549	lung:	n/a	n/a
35	BCL3	chr3:20098725-20099099	GM12878	blood:	n/a	n/a
36	BCL3	chr3:20095916-20096563	A549	lung:	n/a	n/a
37	BCLAF1	chr3:20081323-20081820	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
38	BCLAF1	chr3:20081249-20081751	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
39	BCLAF1	chr3:20082727-20083314	GM12878	blood:	n/a	chr3:20082848-20082857
40	BCLAF1	chr3:20082061-20082647	GM12878	blood:	n/a	chr3:20082391-20082404
41	BHLHE40	chr3:20098667-20099087	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:20056080-20056539	K562	blood:	n/a	n/a
43	BHLHE40	chr3:20081131-20081810	K562	blood:	n/a	chr3:20081686-20081702 chr3:20081683-20081699
44	BHLHE40	chr3:20080055-20080701	K562	blood:	n/a	n/a
45	BHLHE40	chr3:20082970-20083317	HepG2	liver:	n/a	n/a
46	BHLHE40	chr3:20082135-20083420	K562	blood:	n/a	chr3:20082842-20082858 chr3:20082834-20082850
47	BHLHE40	chr3:20008780-20008984	K562	blood:	n/a	n/a
48	BHLHE40	chr3:20064344-20065872	K562	blood:	n/a	n/a
49	BHLHE40	chr3:20082112-20083317	GM12878	blood:	n/a	chr3:20082842-20082858 chr3:20082834-20082850
50	BHLHE40	chr3:20060973-20060974	K562	blood:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20082425-20082475	AG09309	skin:	n/a
2	chr3:20081518-20081568	SK-N-SH_RA	brain:	n/a
3	chr3:20082425-20082475	AG09309	skin:	n/a
4	chr3:20081518-20081568	SK-N-SH_RA	brain:	n/a
5	chr3:20049624-20049674	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:20082425-20082475	HCM	heart:	n/a
7	chr3:20049624-20049674	HRCEpiC	kidney:	n/a
8	chr3:20081582-20081632	HL-60	blood:	n/a
9	chr3:20081585-20081635	H1-hESC	embryonic stem cell:	embryo
10	chr3:20081582-20081632	GM12891	blood:	n/a
11	chr3:20026603-20026653	AG09309	skin:	n/a
12	chr3:20053708-20053758	NHDF-neo	bronchial:	n/a
13	chr3:20082916-20082966	AG04450	lung:	fetal
14	chr3:20081367-20081417	HRPEpiC	eye:	n/a
15	chr3:20078165-20078215	Hela-S3	cervix:	n/a
16	chr3:20081161-20081211	AG04450	lung:	fetal
17	chr3:20085136-20085186	RPTEC	kidney:	n/a
18	chr3:20078165-20078215	HEK293	kidney:	embryo
19	chr3:20026603-20026653	HepG2	liver:	n/a
20	chr3:20053940-20053990	AG09319	gingival:	n/a
21	chr3:20081585-20081635	SK-N-MC	brain:	n/a
22	chr3:20049638-20049688	NHBE	bronchial:	n/a
23	chr3:20078165-20078215	HRPEpiC	eye:	n/a
24	chr3:20049601-20049651	GM12891	blood:	n/a
25	chr3:20081582-20081632	HEEpiC	esophagus:	n/a
26	chr3:20049601-20049651	HL-60	blood:	n/a
27	chr3:20049638-20049688	HMEC	breast:	n/a
28	chr3:20081161-20081211	GM19239	blood:	n/a
29	chr3:20078165-20078215	H1-hESC	embryonic stem cell:	embryo
30	chr3:20026603-20026653	PrEC	prostate:	n/a
31	chr3:20081518-20081568	HepG2	liver:	n/a
32	chr3:20078165-20078215	Hepatocyte	liver:	n/a
33	chr3:20081585-20081635	HUVEC	blood vessel:	n/a
34	chr3:20081161-20081211	AG10803	skin:	n/a
35	chr3:20082543-20082593	AG04449	skin:	fetal
36	chr3:20026603-20026653	HMEC	breast:	n/a
37	chr3:20049624-20049674	HepG2	liver:	n/a
38	chr3:20082285-20082335	SK-N-MC	brain:	n/a
39	chr3:20081585-20081635	HL-60	blood:	n/a
40	chr3:20081367-20081417	GM12892	blood:	n/a
41	chr3:20081585-20081635	ECC-1	luminal epithelium:	n/a
42	chr3:20049624-20049674	SK-N-SH	brain:	n/a
43	chr3:20085136-20085186	PANC-1	pancreas:	n/a
44	chr3:20049638-20049688	AG09309	skin:	n/a
45	chr3:20081516-20081566	AG10803	skin:	n/a
46	chr3:20085136-20085186	ProgFib	skin:	n/a
47	chr3:20082916-20082966	T-47D	breast:	n/a
48	chr3:20081518-20081568	U87	brain:	n/a
49	chr3:20049638-20049688	PANC-1	pancreas:	n/a
50	chr3:20049638-20049688	IMR90	lung:	fetal

(count:120 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:20092001..20094712-chr3:20096791..20098373,2	K562	blood:
2	chr3:19996748..19999658-chr3:20007262..20009565,3	K562	blood:
3	chr3:19987687..19990266-chr3:20104517..20106901,2	K562	blood:
4	chr3:19987513..19990087-chr3:20080861..20083140,3	MCF-7	breast:
5	chr3:20005781..20007385-chr3:20012300..20014395,2	K562	blood:
6	chr3:20081096..20083250-chr3:20083860..20086560,3	MCF-7	breast:
7	chr3:20096664..20098215-chr3:20134683..20136839,2	K562	blood:
8	chr3:19967166..19969606-chr3:20013917..20016357,2	MCF-7	breast:
9	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
10	chr3:20027598..20030041-chr3:20034679..20036338,2	K562	blood:
11	chr3:20105530..20108149-chr3:20143893..20147714,3	MCF-7	breast:
12	chr3:19987801..19990677-chr3:20032427..20034907,3	MCF-7	breast:
13	chr3:20053905..20056718-chr3:20064582..20067158,2	K562	blood:
14	chr3:20036427..20038510-chr3:20080865..20083451,2	K562	blood:
15	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:
16	chr3:20008792..20011141-chr3:20013456..20016159,2	MCF-7	breast:
17	chr3:20043192..20045552-chr3:20226383..20229340,2	K562	blood:
18	chr3:19988644..19989202-chr3:20081357..20082279,2	MCF-7	breast:
19	chr3:19919756..19921311-chr3:20094992..20097825,2	K562	blood:
20	chr3:20035142..20037256-chr3:20064733..20066737,2	K562	blood:
21	chr3:19988087..19989789-chr3:20097450..20099534,2	MCF-7	breast:
22	chr3:19997450..19999508-chr3:20025460..20027848,2	K562	blood:
23	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
24	chr3:20092001..20094712-chr3:20096791..20098373,2	K562	blood:
25	chr3:20027470..20029591-chr3:20033923..20036338,3	K562	blood:
26	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
27	chr3:20050259..20051981-chr3:20063056..20065911,2	K562	blood:
28	chr3:20046912..20049769-chr3:20052524..20055370,2	K562	blood:
29	chr3:20050259..20051981-chr3:20063056..20065911,2	K562	blood:
30	chr3:19987759..19990074-chr3:20094320..20096186,3	MCF-7	breast:
31	chr3:20007536..20010825-chr3:20014102..20016831,3	K562	blood:
32	chr3:20063995..20066056-chr3:20077383..20080079,2	K562	blood:
33	chr3:20111734..20113270-chr3:20113749..20115921,2	K562	blood:
34	chr3:20071377..20073447-chr3:20074855..20077238,2	K562	blood:
35	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:
36	chr3:20108340..20110457-chr3:20115203..20117134,2	K562	blood:
37	chr3:20002287..20004974-chr3:20006037..20009711,3	K562	blood:
38	chr3:20063995..20066056-chr3:20077383..20080079,2	K562	blood:
39	chr3:20058205..20061001-chr3:20066769..20068692,2	K562	blood:
40	chr3:20091766..20093511-chr3:20226250..20228474,2	K562	blood:
41	chr3:20066355..20070620-chr3:20073671..20078413,5	K562	blood:
42	chr3:20089290..20092094-chr3:20224764..20226931,2	K562	blood:
43	chr3:20027598..20030041-chr3:20034679..20036338,2	K562	blood:
44	chr3:20111734..20113270-chr3:20113749..20115921,2	K562	blood:
45	chr3:20064524..20066130-chr3:20225214..20227213,2	K562	blood:
46	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
47	chr3:20007751..20010574-chr3:20010896..20013275,2	MCF-7	breast:
48	chr3:20002484..20004895-chr3:20024210..20026501,2	K562	blood:
49	chr3:19987059..19990115-chr3:20012573..20015556,4	MCF-7	breast:
50	chr3:20087468..20090751-chr3:20095333..20097422,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-3	chr3:20049344-20049739	NONHSAT088609
2	lnc-EFHB-4	chr3:20021453-20021666	NR_027694
3	lnc-EFHB-4	chr3:20042467-20043588	NONHSAT088608
4	lnc-EFHB-4	chr3:20025686-20025788	NR_027694
5	lnc-EFHB-4	chr3:20042522-20043588	NR_027694
6	lnc-EFHB-4	chr3:20053542-20053749	NONHSAT088608
7	lnc-EFHB-4	chr3:20053542-20053765	NR_027694

No data

(count:13 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RAB5A	hsa-miR-101-3p	chr3:20026185-20026206
2	RAB5A	hsa-miR-130b-3p	chr3:20026129-20026150
3	RAB5A	hsa-miR-130b-3p	chr3:20026477-20026484
4	RAB5A	hsa-miR-101-3p	chr3:20026199-20026206
5	RAB5A	hsa-miR-130a-3p	chr3:20026463-20026484
6	RAB5A	hsa-miR-18a-5p	chr3:20025965-20025987
7	RAB5A	hsa-miR-130a-3p	chr3:20026128-20026150
8	RAB5A	hsa-miR-101-3p	chr3:20026272-20026293
9	RAB5A	hsa-miR-130a-3p	chr3:20026477-20026484
10	RAB5A	hsa-miR-33a-5p	chr3:20026130-20026148
11	RAB5A	hsa-miR-101-3p	chr3:20025772-20025793
12	RAB5A	hsa-miR-130b-3p	chr3:20026461-20026484
13	RAB5A	hsa-miR-33a-5p	chr3:20026571-20026591

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000229468	TF binding region
RNU4-85P	TF binding region
ENSG00000230697	TF binding region
RAB5A	TF binding region
PP2D1	TF binding region
KAT2B	CpG island
ENSG00000229468	CpG island
RNU4-85P	CpG island
ENSG00000230697	CpG island
RAB5A	CpG island
PP2D1	CpG island
ENSG00000129810	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000230697	chromatin interactions
ENSG00000235194	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000201545	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000183977	chromatin interactions

Extended variants
information (count: 4367 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:4367 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371031874	chr3:20006708-20006709	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552717073	chr3:20006746-20006747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114849443	chr3:20006748-20006749	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62241291	chr3:20006761-20006762	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs77374438	chr3:20006781-20006782	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150110087	chr3:20006783-20006784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545635778	chr3:20006791-20006792	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564202372	chr3:20006801-20006802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573005434	chr3:20006816-20006817	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540584501	chr3:20006850-20006851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561917468	chr3:20006880-20006881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13089853	chr3:20006903-20006904	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs35939974	chr3:20006912-20006913	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561284878	chr3:20006913-20006914	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141422440	chr3:20007040-20007041	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs386396074	chr3:20007041-20007042	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs75878363	chr3:20007161-20007162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138397954	chr3:20007185-20007186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs367817583	chr3:20007209-20007210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376953269	chr3:20007224-20007225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71316241	chr3:20007316-20007317	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533524321	chr3:20007340-20007341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs62241292	chr3:20007355-20007356	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs570532654	chr3:20007365-20007366	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79290796	chr3:20007405-20007406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546710646	chr3:20007408-20007409	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190883743	chr3:20007428-20007429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532664791	chr3:20007440-20007441	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142695332	chr3:20007447-20007448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116088631	chr3:20007448-20007449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528685910	chr3:20007455-20007456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183452947	chr3:20007466-20007467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539202006	chr3:20007471-20007472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547561491	chr3:20007489-20007490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557545481	chr3:20007493-20007494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573026054	chr3:20007494-20007495	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77937850	chr3:20007502-20007503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147336494	chr3:20007509-20007510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562254645	chr3:20007511-20007512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141026289	chr3:20007541-20007542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531670029	chr3:20007552-20007553	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570523638	chr3:20007564-20007565	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563127985	chr3:20007570-20007571	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536279690	chr3:20007601-20007602	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533689174	chr3:20007628-20007629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550364204	chr3:20007655-20007656	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551970627	chr3:20007690-20007691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560654488	chr3:20007691-20007692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186683306	chr3:20007699-20007700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191347790	chr3:20007707-20007708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	19363497	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2967 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19989800-20018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:19990000-20008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:19990000-20016200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:19990800-20017000	Weak transcription	Fetal Kidney	kidney
5	chr3:19991400-20017000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:19992200-20012200	Weak transcription	Stomach Mucosa	stomach
7	chr3:19993600-20015600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:19993600-20023600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:19993800-20016200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:19993800-20023800	Weak transcription	Small Intestine	intestine
11	chr3:19994000-20015800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:19994000-20017400	Weak transcription	HSMMtube	muscle
13	chr3:19994600-20011600	Weak transcription	Brain Substantia Nigra	brain
14	chr3:19994600-20013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:19995600-20017000	Weak transcription	Brain Germinal Matrix	brain
16	chr3:19995800-20016800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:19995800-20021800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:19996400-20017200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:19996400-20021000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:19996600-20007200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:19996600-20015600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:19996600-20016800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:19996800-20007800	Weak transcription	Adipose Nuclei	Adipose
24	chr3:19997200-20013200	Weak transcription	HMEC	breast
25	chr3:19997200-20017000	Weak transcription	HUVEC	blood vessel
26	chr3:19997600-20011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:19997600-20015200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:19997800-20008400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:19997800-20013200	Weak transcription	NHLF	lung
30	chr3:19997800-20015400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:19997800-20015600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:19997800-20016200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:19997800-20017000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:19997800-20023200	Weak transcription	Spleen	Spleen
35	chr3:19998000-20011800	Weak transcription	Gastric	stomach
36	chr3:19998000-20017000	Weak transcription	HepG2	liver
37	chr3:19998200-20013200	Weak transcription	Osteobl	bone
38	chr3:19998400-20013200	Weak transcription	NHDF-Ad	bronchial
39	chr3:19998800-20011800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:19998800-20013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:19999000-20007200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:19999000-20011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:19999000-20013400	Weak transcription	NH-A	brain
44	chr3:19999200-20011800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:19999600-20006800	Weak transcription	Primary B cells from cord blood	blood
46	chr3:19999600-20007400	Weak transcription	A549	lung
47	chr3:19999600-20008200	Weak transcription	Liver	Liver
48	chr3:19999600-20027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:20000000-20007600	Weak transcription	Hela-S3	cervix
50	chr3:20000400-20008400	Weak transcription	Pancreas	Pancrea

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