Variant report

Variant	nsv1019212
Chromosome Location	chr6:33398031-33413930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:426)
CpG islands
(count:1591)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:33398645-33399545	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr6:33398954-33399529	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr6:33401503-33401794	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:33403788-33403836	K562	blood:	n/a	n/a
5	BACH1	chr6:33399055-33399426	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr6:33398307-33398479	HepG2	liver:	n/a	n/a
7	BHLHE40	chr6:33398786-33399349	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:33398029-33398578	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:33400029-33400062	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:33398813-33398995	K562	blood:	n/a	n/a
11	BHLHE40	chr6:33408403-33408663	K562	blood:	n/a	n/a
12	BHLHE40	chr6:33407795-33407947	K562	blood:	n/a	n/a
13	BHLHE40	chr6:33407070-33407238	K562	blood:	n/a	n/a
14	CBX3	chr6:33408360-33408776	K562	blood:	n/a	n/a
15	CCNT2	chr6:33398766-33398945	K562	blood:	n/a	n/a
16	CCNT2	chr6:33408504-33408719	K562	blood:	n/a	n/a
17	CEBPB	chr6:33398215-33398511	IMR90	lung:	n/a	n/a
18	CEBPB	chr6:33398987-33399359	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr6:33398207-33398564	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:33398244-33398537	K562	blood:	n/a	n/a
21	CEBPB	chr6:33407161-33407204	K562	blood:	n/a	n/a
22	CEBPB	chr6:33398238-33398500	HepG2	liver:	n/a	n/a
23	CEBPB	chr6:33398187-33398562	HepG2	liver:	n/a	n/a
24	CEBPB	chr6:33407852-33407910	K562	blood:	n/a	n/a
25	CHD1	chr6:33400618-33401028	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr6:33398709-33398909	K562	blood:	n/a	n/a
27	CHD2	chr6:33398791-33399488	H1-hESC	embryonic stem cell:	n/a	chr6:33399261-33399271
28	CHD2	chr6:33401604-33401766	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr6:33399783-33400280	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr6:33398656-33399325	GM12878	blood:	n/a	chr6:33399261-33399271
31	CREB1	chr6:33398708-33399510	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr6:33401337-33401804	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr6:33401377-33401922	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr6:33400630-33401102	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr6:33398682-33399452	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:33403620-33403770	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr6:33407888-33408015	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:33398840-33398990	AG04449	skin:	n/a	n/a
39	CTCF	chr6:33407940-33408090	HEK293	kidney:	n/a	n/a
40	CTCF	chr6:33407880-33408030	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr6:33407922-33408016	GM12891	blood:	n/a	n/a
42	CTCF	chr6:33403620-33403770	AG04449	skin:	n/a	n/a
43	CTCF	chr6:33407891-33408007	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr6:33408000-33408003	GM19240	blood:	n/a	n/a
45	CTCF	chr6:33398860-33399010	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr6:33407866-33407997	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr6:33407920-33408070	GM12865	blood:	n/a	n/a
48	CTCF	chr6:33399400-33399550	GM12872	blood:	n/a	chr6:33399499-33399517 chr6:33399502-33399511
49	CTCF	chr6:33407820-33407970	GM12871	blood:	n/a	n/a
50	CTCF	chr6:33407939-33407986	MCF-7	breast:	n/a	n/a

(count:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33399151-33399201	LNCaP	prostate:	n/a
2	chr6:33401536-33401586	H1-hESC	embryonic stem cell:	embryo
3	chr6:33401542-33401592	HL-60	blood:	n/a
4	chr6:33398522-33398572	ECC-1	luminal epithelium:	n/a
5	chr6:33398522-33398572	MCF-7	breast:	n/a
6	chr6:33399151-33399201	LNCaP	prostate:	n/a
7	chr6:33401536-33401586	H1-hESC	embryonic stem cell:	embryo
8	chr6:33401542-33401592	HL-60	blood:	n/a
9	chr6:33398522-33398572	ECC-1	luminal epithelium:	n/a
10	chr6:33398522-33398572	MCF-7	breast:	n/a
11	chr6:33409448-33409498	U87	brain:	n/a
12	chr6:33401192-33401242	PrEC	prostate:	n/a
13	chr6:33409399-33409449	ovcar-3	ovarian:	n/a
14	chr6:33400021-33400071	RPTEC	kidney:	n/a
15	chr6:33405517-33405567	ovcar-3	ovarian:	n/a
16	chr6:33400505-33400555	AG09309	skin:	n/a
17	chr6:33401520-33401570	U87	brain:	n/a
18	chr6:33398610-33398660	NT2-D1	testis:	n/a
19	chr6:33405457-33405507	LNCaP	prostate:	n/a
20	chr6:33405496-33405546	HAEpiC	amniotic membrane:	n/a
21	chr6:33401542-33401592	NB4	blood:	n/a
22	chr6:33401536-33401586	SKMC	muscle:	n/a
23	chr6:33400528-33400578	SK-N-MC	brain:	n/a
24	chr6:33400505-33400555	HCT-116	colon:	n/a
25	chr6:33409399-33409449	GM12878	blood:	n/a
26	chr6:33399109-33399159	NH-A	brain:	n/a
27	chr6:33401192-33401242	ProgFib	skin:	n/a
28	chr6:33398866-33398916	HUVEC	blood vessel:	n/a
29	chr6:33401192-33401242	RPTEC	kidney:	n/a
30	chr6:33400477-33400527	ProgFib	skin:	n/a
31	chr6:33405517-33405567	ECC-1	luminal epithelium:	n/a
32	chr6:33409448-33409498	SK-N-SH_RA	brain:	n/a
33	chr6:33398906-33398956	HRPEpiC	eye:	n/a
34	chr6:33400477-33400527	HAEpiC	amniotic membrane:	n/a
35	chr6:33398923-33398973	RPTEC	kidney:	n/a
36	chr6:33409448-33409498	SK-N-SH	brain:	n/a
37	chr6:33401520-33401570	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:33400477-33400527	GM12892	blood:	n/a
39	chr6:33398906-33398956	IMR90	lung:	fetal
40	chr6:33401192-33401242	MCF-7	breast:	n/a
41	chr6:33401520-33401570	T-47D	breast:	n/a
42	chr6:33409448-33409498	NHBE	bronchial:	n/a
43	chr6:33398677-33398727	MCF10A-Er-Src	breast:	n/a
44	chr6:33398906-33398956	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:33401514-33401564	HepG2	liver:	n/a
46	chr6:33400528-33400578	HCPEpiC	choroid plexus:	n/a
47	chr6:33405496-33405546	A549	lung:	n/a
48	chr6:33405496-33405546	CMK	blood:	n/a
49	chr6:33405517-33405567	NH-A	brain:	n/a
50	chr6:33401192-33401242	NHBE	bronchial:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33407430..33409237-chr6:33415034..33417664,3	MCF-7	breast:
2	chr6:33399707..33401893-chr6:33408144..33410005,2	MCF-7	breast:
3	chr6:33254824..33258515-chr6:33394130..33398725,7	K562	blood:
4	chr6:33393532..33395218-chr6:33409993..33412120,3	MCF-7	breast:
5	chr6:33244202..33245902-chr6:33402963..33405933,2	K562	blood:
6	chr6:33174005..33176257-chr6:33398590..33400783,2	MCF-7	breast:
7	chr6:33283041..33291527-chr6:33390658..33398493,18	K562	blood:
8	chr6:33402335..33405767-chr6:33416394..33418965,3	MCF-7	breast:
9	chr6:33243319..33245902-chr6:33402453..33405933,3	K562	blood:
10	chr6:33238168..33246812-chr6:33390354..33398427,26	K562	blood:
11	chr6:33394932..33398976-chr6:33412593..33416199,4	MCF-7	breast:
12	chr17:57917402..57920135-chr6:33409836..33411745,2	MCF-7	breast:
13	chr6:33357884..33361160-chr6:33397889..33401606,5	K562	blood:
14	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
15	chr6:33404069..33406750-chr6:33407909..33409800,2	MCF-7	breast:
16	chr6:33407586..33409275-chr6:33483578..33485423,2	K562	blood:
17	chr6:33263619..33269524-chr6:33392449..33400505,13	K562	blood:
18	chr6:33406190..33414491-chr6:33419287..33424467,10	MCF-7	breast:
19	chr6:33395175..33398193-chr6:33670762..33673349,3	MCF-7	breast:
20	chr6:33399707..33401893-chr6:33408144..33410005,2	MCF-7	breast:
21	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
22	chr6:33254680..33257397-chr6:33405638..33407793,2	K562	blood:
23	chr6:33395342..33398838-chr6:33677022..33679442,4	K562	blood:
24	chr6:33173944..33176266-chr6:33397713..33400457,2	K562	blood:
25	chr6:33386909..33389744-chr6:33403797..33405499,2	MCF-7	breast:
26	chr6:33409867..33413069-chr6:33413724..33418107,6	MCF-7	breast:
27	chr6:33396539..33398732-chr6:33463165..33465539,2	K562	blood:
28	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
29	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:
30	chr6:33244147..33247113-chr6:33398461..33400467,3	K562	blood:
31	chr6:33357200..33360290-chr6:33405779..33409122,3	K562	blood:
32	chr6:33358270..33361160-chr6:33397889..33401606,4	K562	blood:
33	chr6:33242343..33245009-chr6:33406887..33409853,3	K562	blood:
34	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5004-3p	chr6:33406174-33406195	MIMAT0021028
hsa-miR-5004-5p	chr6:33406128-33406149	MIMAT0021027

No data

Variant related genes	Relation type
MIR5004	TF binding region
SYNGAP1	TF binding region
MIR5004	CpG island
SYNGAP1	CpG island
ENSG00000223501	chromatin interactions
ENSG00000204209	chromatin interactions
ENSG00000213588	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000236104	chromatin interactions
ENSG00000199036	chromatin interactions
ENSG00000231925	chromatin interactions
ENSG00000225644	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000264085	chromatin interactions
ENSG00000237441	chromatin interactions
ENSG00000237649	chromatin interactions
ENSG00000235863	chromatin interactions
ENSG00000197283	chromatin interactions
ENSG00000204220	chromatin interactions
ENSG00000227057	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533954593	chr6:33398047-33398048	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs555707102	chr6:33398056-33398057	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs559848709	chr6:33398119-33398120	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs527996106	chr6:33398126-33398127	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs147571727	chr6:33398186-33398187	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs141909972	chr6:33398204-33398205	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs561485742	chr6:33398253-33398254	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs35914105	chr6:33398332-33398333	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs531973058	chr6:33398337-33398338	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs182772415	chr6:33398442-33398443	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs187487792	chr6:33398463-33398464	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs113584817	chr6:33398483-33398484	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs413722	chr6:33398620-33398621	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547774882	chr6:33398655-33398656	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs201513804	chr6:33398677-33398678	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs533851003	chr6:33398684-33398685	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs145546922	chr6:33398749-33398750	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs376914441	chr6:33398807-33398808	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs567207850	chr6:33398816-33398817	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs537689105	chr6:33398844-33398845	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs555936201	chr6:33398992-33398993	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs577669893	chr6:33399136-33399137	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs544735731	chr6:33399151-33399152	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs145372890	chr6:33399165-33399166	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs114358843	chr6:33399199-33399200	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs537531565	chr6:33399200-33399201	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs192761406	chr6:33399214-33399215	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs34104201	chr6:33399233-33399234	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs576802372	chr6:33399237-33399238	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs182780534	chr6:33399251-33399252	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs150325166	chr6:33399272-33399273	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs544078935	chr6:33399305-33399306	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs370918889	chr6:33399344-33399345	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs114785032	chr6:33399386-33399387	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs577215123	chr6:33399437-33399438	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs546090245	chr6:33399523-33399524	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs547540641	chr6:33399567-33399568	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs559718926	chr6:33399577-33399578	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs187201247	chr6:33399604-33399605	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs28361087	chr6:33399656-33399657	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs567269176	chr6:33399767-33399768	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs9394145	chr6:33399778-33399779	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs549955270	chr6:33399800-33399801	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs571318428	chr6:33399818-33399819	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs201145910	chr6:33399930-33399931	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs192116921	chr6:33400021-33400022	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs114505996	chr6:33400061-33400062	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs200171707	chr6:33400073-33400074	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs376140171	chr6:33400080-33400081	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs116550709	chr6:33400096-33400097	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20964600	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33396000-33401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:33396200-33399200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:33396200-33399800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr6:33396200-33400000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr6:33396200-33400000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:33396200-33400200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr6:33396200-33400200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:33396200-33400400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:33396200-33400400	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:33396400-33398200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:33396400-33398800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:33396400-33398800	Enhancers	Brain Substantia Nigra	brain
13	chr6:33396400-33398800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:33396400-33399000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:33396400-33399000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:33396400-33399200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:33396400-33401200	Enhancers	Spleen	Spleen
18	chr6:33396400-33401600	Enhancers	Fetal Heart	heart
19	chr6:33396400-33403000	Weak transcription	Ovary	ovary
20	chr6:33396400-33405200	Weak transcription	Psoas Muscle	Psoas
21	chr6:33396600-33398200	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:33396600-33398400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:33396600-33398400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:33396600-33398600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:33396600-33398600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:33396600-33398600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:33396600-33398600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:33396600-33398600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:33396600-33398600	Enhancers	Adipose Nuclei	Adipose
30	chr6:33396600-33398600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:33396600-33398600	Enhancers	HepG2	liver
32	chr6:33396600-33398800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:33396600-33398800	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:33396600-33399000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:33396600-33399000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:33396600-33399200	Enhancers	Fetal Intestine Small	intestine
37	chr6:33396600-33399200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:33396600-33399400	Enhancers	HMEC	breast
39	chr6:33396600-33399600	Enhancers	Liver	Liver
40	chr6:33396600-33399600	Enhancers	Fetal Intestine Large	intestine
41	chr6:33396600-33399600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:33396600-33400600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:33396600-33400600	Enhancers	Fetal Muscle Leg	muscle
44	chr6:33396600-33400600	Enhancers	Lung	lung
45	chr6:33396600-33400800	Weak transcription	Right Atrium	heart
46	chr6:33396600-33401000	Weak transcription	HSMMtube	muscle
47	chr6:33396600-33416000	Weak transcription	Pancreas	Pancrea
48	chr6:33396800-33398200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:33396800-33398200	Weak transcription	Small Intestine	intestine
50	chr6:33396800-33398600	Enhancers	H9 Cell Line	embryonic stem cell

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