Variant report

Variant	rs374431931
Chromosome Location	chr7:6803560-6803561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:6803410-6803703	K562	blood:	n/a	n/a
2	POLR2A	chr7:6803407-6803738	MCF-7	breast:	n/a	n/a
3	MYC	chr7:6803496-6803777	MCF-7	breast:	n/a	chr7:6803504-6803514
4	USF1	chr7:6803522-6803704	HepG2	liver:	n/a	n/a
5	MYC	chr7:6803505-6803707	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:6803448-6803704	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6803522-6803572	GM12892	blood:	n/a
2	chr7:6803522-6803572	U87	brain:	n/a
3	chr7:6803522-6803572	HCM	heart:	n/a
4	chr7:6803522-6803572	CMK	blood:	n/a
5	chr7:6803522-6803572	ProgFib	skin:	n/a
6	chr7:6803522-6803572	MCF10A-Er-Src	breast:	n/a
7	chr7:6803522-6803572	A549	lung:	n/a
8	chr7:6803522-6803572	Caco-2	colon:	n/a
9	chr7:6803522-6803572	GM12891	blood:	n/a
10	chr7:6803522-6803572	SAEC	small airway:	n/a
11	chr7:6803522-6803572	HCT-116	colon:	n/a
12	chr7:6803522-6803572	PrEC	prostate:	n/a
13	chr7:6803522-6803572	GM19239	blood:	n/a
14	chr7:6803522-6803572	NHDF-neo	bronchial:	n/a
15	chr7:6803522-6803572	AG04450	lung:	fetal
16	chr7:6803522-6803572	NB4	blood:	n/a
17	chr7:6803522-6803572	T-47D	breast:	n/a
18	chr7:6803522-6803572	RPTEC	kidney:	n/a
19	chr7:6803522-6803572	Hepatocyte	liver:	n/a
20	chr7:6803522-6803572	K562	blood:	n/a
21	chr7:6803522-6803572	H1-hESC	embryonic stem cell:	embryo
22	chr7:6803522-6803572	HRPEpiC	eye:	n/a
23	chr7:6803522-6803572	HNPCEpiC	eye:	n/a
24	chr7:6803522-6803572	HAEpiC	amniotic membrane:	n/a
25	chr7:6803522-6803572	IMR90	lung:	fetal
26	chr7:6803522-6803572	HCF	heart:	n/a
27	chr7:6803522-6803572	SK-N-SH	brain:	n/a
28	chr7:6803522-6803572	HCPEpiC	choroid plexus:	n/a
29	chr7:6803522-6803572	SK-N-MC	brain:	n/a
30	chr7:6803522-6803572	BJ	skin:	n/a
31	chr7:6803522-6803572	GM12878	blood:	n/a
32	chr7:6803522-6803572	PFSK-1	brain:	n/a
33	chr7:6803522-6803572	HepG2	liver:	n/a
34	chr7:6803522-6803572	AG09309	skin:	n/a
35	chr7:6803522-6803572	NH-A	brain:	n/a
36	chr7:6803522-6803572	Hela-S3	cervix:	n/a
37	chr7:6803522-6803572	AoSMC	blood vessel:	n/a
38	chr7:6803522-6803572	HEK293	kidney:	embryo
39	chr7:6803522-6803572	MCF-7	breast:	n/a
40	chr7:6803522-6803572	NHBE	bronchial:	n/a
41	chr7:6803522-6803572	BE2_C	brain:	n/a
42	chr7:6803522-6803572	HRE	kidney:	n/a
43	chr7:6803522-6803572	GM06990	blood:	n/a
44	chr7:6803522-6803572	LNCaP	prostate:	n/a
45	chr7:6803522-6803572	AG04449	skin:	fetal
46	chr7:6803522-6803572	HMEC	breast:	n/a
47	chr7:6803522-6803572	Jurkat	blood:	n/a
48	chr7:6803522-6803572	ECC-1	luminal epithelium:	n/a
49	chr7:6803522-6803572	HEEpiC	esophagus:	n/a
50	chr7:6803522-6803572	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
RSPH10B2	TF binding region
RSPH10B2	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	esv33385	chr7:6784757-6840337	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv887452	chr7:6791749-6919214	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv887453	chr7:6803267-6919214	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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