Variant report

Variant	rs13309995
Chromosome Location	chr7:39837736-39837737
allele	A/G
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	POLR2A	chr7:39837704-39838099	GM12891	blood:	n/a	n/a
2	FOSL2	chr7:39837633-39838195	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:39837735-39838083	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:39837686-39838078	GM12892	blood:	n/a	n/a
5	USF1	chr7:39837659-39838026	HepG2	liver:	n/a	chr7:39837845-39837856
6	USF1	chr7:39837720-39837930	K562	blood:	n/a	chr7:39837845-39837856
7	RXRA	chr7:39837720-39838064	HepG2	liver:	n/a	chr7:39837747-39837767 chr7:39837865-39837881
8	POLR2A	chr7:39837673-39837736	GM12878	blood:	n/a	n/a
9	USF1	chr7:39837722-39837944	HepG2	liver:	n/a	chr7:39837845-39837856
10	MAFF	chr7:39837662-39837961	HepG2	liver:	n/a	chr7:39837782-39837796
11	POLR2A	chr7:39837664-39838097	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr7:39837659-39838083	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:39837608-39838189	GM12892	blood:	n/a	n/a
14	MAFK	chr7:39837718-39837874	H1-hESC	embryonic stem cell:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837782-39837796
15	POLR2A	chr7:39837702-39838114	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:39837591-39838191	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:39837619-39838130	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr7:39837654-39837965	HepG2	liver:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837932-39837948 chr7:39837782-39837796 chr7:39837932-39837943 chr7:39837933-39837944
19	JUND	chr7:39837684-39838059	HepG2	liver:	n/a	n/a
20	HEY1	chr7:39837702-39838076	HepG2	liver:	n/a	n/a
21	CTCF	chr7:39837700-39837850	HepG2	liver:	n/a	chr7:39837749-39837767 chr7:39837755-39837764 chr7:39837751-39837764
22	MAFK	chr7:39837657-39837935	HepG2	liver:	n/a	chr7:39837778-39837793 chr7:39837779-39837799 chr7:39837782-39837796

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39837692-39837742	SKMC	muscle:	n/a
2	chr7:39837692-39837742	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:39837692-39837742	K562	blood:	n/a
4	chr7:39837692-39837742	ProgFib	skin:	n/a
5	chr7:39837692-39837742	HL-60	blood:	n/a
6	chr7:39837692-39837742	Jurkat	blood:	n/a
7	chr7:39837692-39837742	HRCEpiC	kidney:	n/a
8	chr7:39837692-39837742	HRE	kidney:	n/a
9	chr7:39837692-39837742	U87	brain:	n/a
10	chr7:39837692-39837742	SAEC	small airway:	n/a
11	chr7:39837692-39837742	NHBE	bronchial:	n/a
12	chr7:39837692-39837742	HUVEC	blood vessel:	n/a
13	chr7:39837692-39837742	AG09309	skin:	n/a
14	chr7:39837692-39837742	GM12878	blood:	n/a
15	chr7:39837692-39837742	AG10803	skin:	n/a
16	chr7:39837692-39837742	BJ	skin:	n/a
17	chr7:39837692-39837742	GM12892	blood:	n/a
18	chr7:39837692-39837742	AG04449	skin:	fetal
19	chr7:39837692-39837742	HCT-116	colon:	n/a
20	chr7:39837692-39837742	GM06990	blood:	n/a
21	chr7:39837692-39837742	SK-N-SH	brain:	n/a
22	chr7:39837692-39837742	HCF	heart:	n/a
23	chr7:39837692-39837742	BE2_C	brain:	n/a
24	chr7:39837692-39837742	NHDF-neo	bronchial:	n/a
25	chr7:39837692-39837742	NT2-D1	testis:	n/a
26	chr7:39837692-39837742	NH-A	brain:	n/a
27	chr7:39837692-39837742	A549	lung:	n/a
28	chr7:39837692-39837742	AG09319	gingival:	n/a
29	chr7:39837692-39837742	RPTEC	kidney:	n/a
30	chr7:39837692-39837742	GM12891	blood:	n/a
31	chr7:39837692-39837742	AG04450	lung:	fetal
32	chr7:39837692-39837742	Hela-S3	cervix:	n/a
33	chr7:39837692-39837742	CMK	blood:	n/a
34	chr7:39837692-39837742	NB4	blood:	n/a
35	chr7:39837692-39837742	PFSK-1	brain:	n/a
36	chr7:39837692-39837742	HCM	heart:	n/a
37	chr7:39837692-39837742	SK-N-SH_RA	brain:	n/a
38	chr7:39837692-39837742	HEK293	kidney:	embryo
39	chr7:39837692-39837742	HEEpiC	esophagus:	n/a
40	chr7:39837692-39837742	ovcar-3	ovarian:	n/a
41	chr7:39837692-39837742	SK-N-MC	brain:	n/a
42	chr7:39837692-39837742	HMEC	breast:	n/a
43	chr7:39837692-39837742	GM19239	blood:	n/a
44	chr7:39837692-39837742	MCF-7	breast:	n/a
45	chr7:39837692-39837742	HRPEpiC	eye:	n/a
46	chr7:39837692-39837742	HNPCEpiC	eye:	n/a
47	chr7:39837692-39837742	HAEpiC	amniotic membrane:	n/a
48	chr7:39837692-39837742	IMR90	lung:	fetal
49	chr7:39837692-39837742	T-47D	breast:	n/a
50	chr7:39837692-39837742	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
CICP22	TF binding region
CICP22	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv970997	chr7:39837441-39839303	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39821400-39839000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr7:39831000-39839800	Weak transcription	Right Ventricle	heart
3	chr7:39831400-39838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:39831800-39838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:39831800-39838800	Weak transcription	Ovary	ovary
6	chr7:39833200-39838200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:39833200-39842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:39833600-39837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:39833600-39838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:39833600-39839000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:39833600-39845000	Weak transcription	Esophagus	oesophagus
12	chr7:39836000-39839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:39837400-39838200	Enhancers	Fetal Intestine Large	intestine
14	chr7:39837600-39837800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:39837600-39837800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:39837600-39837800	Enhancers	Pancreas	Pancrea
17	chr7:39837600-39837800	Active TSS	Spleen	Spleen
18	chr7:39837600-39838200	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links