Variant report

Variant	nsv1012014
Chromosome Location	chr1:213371127-213423214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:213418013-213418264	K562	blood:	n/a	n/a
2	ATF2	chr1:213405143-213405636	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:213405165-213405728	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:213419375-213419497	K562	blood:	n/a	n/a
5	BCL11A	chr1:213405203-213405586	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr1:213405300-213405614	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:213418029-213418347	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:213412214-213412215	K562	blood:	n/a	n/a
9	BRCA1	chr1:213384017-213384140	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:213422889-213423013	K562	blood:	n/a	n/a
11	CEBPB	chr1:213374840-213375095	IMR90	lung:	n/a	n/a
12	CHD1	chr1:213418540-213418566	GM12878	blood:	n/a	n/a
13	CHD2	chr1:213405267-213405648	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr1:213405242-213405662	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:213418040-213418190	A549	lung:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
16	CTCF	chr1:213418002-213418237	Pancreas_OC	pancreas:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
17	CTCF	chr1:213418080-213418230	GM12870	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
18	CTCF	chr1:213418109-213418197	GM19240	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
19	CTCF	chr1:213417919-213418257	Spleen_OC	spleen:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
20	CTCF	chr1:213418087-213418206	NHEK	skin:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
21	CTCF	chr1:213418040-213418190	GM12878	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
22	CTCF	chr1:213418014-213418233	LNCaP	prostate:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
23	CTCF	chr1:213417884-213418310	HepG2	liver:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
24	CTCF	chr1:213417680-213418469	SK-N-SH	brain:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
25	CTCF	chr1:213418060-213418210	MCF-7	breast:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
26	CTCF	chr1:213418031-213418181	SK-N-SH_RA	brain:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
27	CTCF	chr1:213418010-213418236	GM13977	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
28	CTCF	chr1:213418040-213418190	HRPEpiC	eye:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
29	CTCF	chr1:213418035-213418225	GM20000	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
30	CTCF	chr1:213418040-213418190	HMF	breast:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
31	CTCF	chr1:213421980-213422130	AG04450	lung:	n/a	n/a
32	CTCF	chr1:213418060-213418210	HMEC	breast:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
33	CTCF	chr1:213418029-213418232	HepG2	liver:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
34	CTCF	chr1:213417987-213418258	K562	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
35	CTCF	chr1:213418040-213418190	HCFaa	heart:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
36	CTCF	chr1:213418040-213418190	HMEC	breast:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
37	CTCF	chr1:213422040-213422190	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr1:213418040-213418190	HEEpiC	esophagus:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
39	CTCF	chr1:213418020-213418170	AG09309	skin:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
40	CTCF	chr1:213418060-213418210	HCPEpiC	choroid plexus:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
41	CTCF	chr1:213418020-213418170	HBMEC	blood vessel:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
42	CTCF	chr1:213418080-213418230	GM12873	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
43	CTCF	chr1:213418060-213418210	GM12872	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
44	CTCF	chr1:213417972-213418241	GM12878	blood:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
45	CTCF	chr1:213422000-213422150	HFF	foreskin:	n/a	n/a
46	CTCF	chr1:213417960-213418110	HCM	heart:	n/a	n/a
47	CTCF	chr1:213417909-213418235	H1-hESC	embryonic stem cell:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
48	CTCF	chr1:213418040-213418190	HEK293	kidney:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
49	CTCF	chr1:213418080-213418230	NHEK	skin:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128
50	CTCF	chr1:213418080-213418230	HBMEC	blood vessel:	n/a	chr1:213418113-213418121 chr1:213418111-213418127 chr1:213418113-213418126 chr1:213418112-213418133 chr1:213418110-213418128

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213405366-213405416	A549	lung:	n/a
2	chr1:213405366-213405416	MCF-7	breast:	n/a
3	chr1:213405366-213405416	GM12892	blood:	n/a
4	chr1:213405366-213405416	Jurkat	blood:	n/a
5	chr1:213405366-213405416	K562	blood:	n/a
6	chr1:213405366-213405416	Hepatocyte	liver:	n/a
7	chr1:213405366-213405416	SK-N-MC	brain:	n/a
8	chr1:213405366-213405416	HRE	kidney:	n/a
9	chr1:213405366-213405416	HCM	heart:	n/a
10	chr1:213405366-213405416	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:213405366-213405416	BJ	skin:	n/a
12	chr1:213405366-213405416	SAEC	small airway:	n/a
13	chr1:213405366-213405416	HNPCEpiC	eye:	n/a
14	chr1:213405366-213405416	GM12878	blood:	n/a
15	chr1:213405366-213405416	CMK	blood:	n/a
16	chr1:213405366-213405416	HIPEpiC	eye:	n/a
17	chr1:213405366-213405416	HAEpiC	amniotic membrane:	n/a
18	chr1:213405366-213405416	GM12891	blood:	n/a
19	chr1:213405366-213405416	RPTEC	kidney:	n/a
20	chr1:213405366-213405416	ovcar-3	ovarian:	n/a
21	chr1:213405366-213405416	PANC-1	pancreas:	n/a
22	chr1:213405366-213405416	PrEC	prostate:	n/a
23	chr1:213405366-213405416	GM19239	blood:	n/a
24	chr1:213405366-213405416	AG09319	gingival:	n/a
25	chr1:213405366-213405416	PFSK-1	brain:	n/a
26	chr1:213405366-213405416	NT2-D1	testis:	n/a
27	chr1:213405366-213405416	Hela-S3	cervix:	n/a
28	chr1:213405366-213405416	SK-N-SH_RA	brain:	n/a
29	chr1:213405366-213405416	AoSMC	blood vessel:	n/a
30	chr1:213405366-213405416	U87	brain:	n/a
31	chr1:213405366-213405416	NHBE	bronchial:	n/a
32	chr1:213405366-213405416	HMEC	breast:	n/a
33	chr1:213405366-213405416	HRCEpiC	kidney:	n/a
34	chr1:213405366-213405416	HCF	heart:	n/a
35	chr1:213405366-213405416	AG09309	skin:	n/a
36	chr1:213405366-213405416	HL-60	blood:	n/a
37	chr1:213405366-213405416	SK-N-SH	brain:	n/a
38	chr1:213405366-213405416	HepG2	liver:	n/a
39	chr1:213405366-213405416	Caco-2	colon:	n/a
40	chr1:213405366-213405416	HEEpiC	esophagus:	n/a
41	chr1:213405366-213405416	NH-A	brain:	n/a
42	chr1:213405366-213405416	HUVEC	blood vessel:	n/a
43	chr1:213405366-213405416	T-47D	breast:	n/a
44	chr1:213405366-213405416	LNCaP	prostate:	n/a
45	chr1:213405366-213405416	MCF10A-Er-Src	breast:	n/a
46	chr1:213405366-213405416	HCT-116	colon:	n/a
47	chr1:213405366-213405416	SKMC	muscle:	n/a
48	chr1:213405366-213405416	AG10803	skin:	n/a
49	chr1:213405366-213405416	NB4	blood:	n/a
50	chr1:213405366-213405416	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213402752..213406485-chr1:213407336..213409519,4	K562	blood:
2	chr1:213398206..213399824-chr1:213400254..213403219,2	K562	blood:
3	chr1:213405078..213407428-chr1:213458002..213459532,2	K562	blood:
4	chr1:213411859..213414692-chr1:214502325..214505233,2	MCF-7	breast:
5	chr1:213402752..213406485-chr1:213407336..213409519,4	K562	blood:
6	chr1:213410280..213412046-chr1:213412206..213414016,2	K562	blood:
7	chr1:213374889..213377014-chr1:214453337..214454905,2	MCF-7	breast:
8	chr1:213410280..213412046-chr1:213412206..213414016,2	K562	blood:
9	chr1:213403677..213405809-chr1:213417611..213420173,2	K562	blood:
10	chr1:213412075..213413752-chr1:213416133..213417762,2	K562	blood:
11	chr1:213418757..213420521-chr1:213420795..213423532,2	K562	blood:
12	chr1:213398206..213399824-chr1:213400254..213403219,2	K562	blood:
13	chr1:213404542..213407236-chr1:213407336..213409957,4	K562	blood:
14	chr1:213412075..213413752-chr1:213416133..213417762,2	K562	blood:
15	chr1:213420850..213423697-chr1:213427535..213429771,2	K562	blood:
16	chr1:213408487..213410031-chr1:213414324..213416329,2	K562	blood:
17	chr1:213404542..213407236-chr1:213407336..213409957,4	K562	blood:
18	chr1:213403677..213405809-chr1:213417611..213420173,2	K562	blood:
19	chr1:213418757..213420521-chr1:213420795..213423532,2	K562	blood:

Variant related genes	Relation type
RPS6KC1	TF binding region
RPS6KC1	CpG island
ENSG00000136643	chromatin interactions
ENSG00000143499	chromatin interactions

Extended variants
information (count: 1877 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1391549	chr1:213371127-213371128	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571855803	chr1:213371129-213371130	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577040215	chr1:213371144-213371145	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187703171	chr1:213371177-213371178	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372903836	chr1:213371179-213371180	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575077858	chr1:213371183-213371184	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542500497	chr1:213371186-213371187	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560319536	chr1:213371192-213371193	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1909185	chr1:213371267-213371268	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572381988	chr1:213371271-213371272	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150604985	chr1:213371285-213371286	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192752775	chr1:213371288-213371289	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184209281	chr1:213371290-213371291	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549953342	chr1:213371291-213371292	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561859163	chr1:213371323-213371324	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529210882	chr1:213371412-213371413	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547650094	chr1:213371435-213371436	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565563083	chr1:213371446-213371447	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138724510	chr1:213371462-213371463	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551072111	chr1:213371528-213371529	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569365857	chr1:213371535-213371536	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536746703	chr1:213371537-213371538	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556379917	chr1:213371558-213371559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4381261	chr1:213371573-213371574	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61834141	chr1:213371640-213371641	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535799824	chr1:213371673-213371674	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554417449	chr1:213371692-213371693	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12757940	chr1:213371730-213371731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188565468	chr1:213371743-213371744	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536855246	chr1:213371766-213371767	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546178007	chr1:213371771-213371772	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181059750	chr1:213372003-213372004	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565539915	chr1:213372118-213372119	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78884122	chr1:213372125-213372126	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79809281	chr1:213372126-213372127	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76243235	chr1:213372127-213372128	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61834142	chr1:213372221-213372222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149317293	chr1:213372224-213372225	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35298070	chr1:213372315-213372316	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79507655	chr1:213372347-213372348	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559561146	chr1:213372414-213372415	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559367164	chr1:213372454-213372455	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113312666	chr1:213372469-213372470	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376028384	chr1:213372516-213372517	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184481238	chr1:213372638-213372639	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551010565	chr1:213372684-213372685	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536756866	chr1:213372711-213372712	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144625603	chr1:213372717-213372718	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148490978	chr1:213372738-213372739	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115508262	chr1:213372767-213372768	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213301000-213374800	Weak transcription	HSMM	muscle
2	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
4	chr1:213337800-213374400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
6	chr1:213345600-213404600	Weak transcription	Osteobl	bone
7	chr1:213346200-213387400	Weak transcription	Gastric	stomach
8	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
9	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:213358000-213375000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:213360000-213371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:213360400-213371200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:213360400-213373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:213360600-213378000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:213360800-213372200	Weak transcription	Left Ventricle	heart
17	chr1:213361600-213386600	Weak transcription	Aorta	Aorta
18	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:213362800-213372400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:213364400-213372800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:213366200-213371200	Weak transcription	NHDF-Ad	bronchial
22	chr1:213367000-213372200	Weak transcription	Ovary	ovary
23	chr1:213368200-213378200	Weak transcription	K562	blood
24	chr1:213368200-213386600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:213368200-213387200	Weak transcription	Lung	lung
26	chr1:213369600-213371200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:213369600-213388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
29	chr1:213370000-213374400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:213370200-213371200	Weak transcription	Liver	Liver
31	chr1:213370400-213371600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr1:213370400-213372000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr1:213370600-213380200	Weak transcription	Fetal Stomach	stomach
34	chr1:213370800-213371400	ZNF genes & repeats	Dnd41	blood
35	chr1:213370800-213371600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr1:213370800-213371800	ZNF genes & repeats	Fetal Lung	lung
37	chr1:213370800-213372200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:213370800-213372800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr1:213370800-213380600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:213371000-213371400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr1:213371000-213371600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:213371000-213371600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:213371000-213371600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:213371000-213371800	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr1:213371000-213373000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:213371000-213373000	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr1:213371000-213373200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr1:213371000-213389400	Weak transcription	Right Ventricle	heart
50	chr1:213371200-213371600	ZNF genes & repeats	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links