Variant report

Variant	rs6971259
Chromosome Location	chr7:136850752-136850753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:136850736-136850786	PFSK-1	brain:	n/a
2	chr7:136850736-136850786	HCF	heart:	n/a
3	chr7:136850736-136850786	NHBE	bronchial:	n/a
4	chr7:136850736-136850786	HRE	kidney:	n/a
5	chr7:136850736-136850786	ECC-1	luminal epithelium:	n/a
6	chr7:136850736-136850786	HMEC	breast:	n/a
7	chr7:136850736-136850786	PANC-1	pancreas:	n/a
8	chr7:136850736-136850786	HAEpiC	amniotic membrane:	n/a
9	chr7:136850736-136850786	AG09309	skin:	n/a
10	chr7:136850736-136850786	H1-hESC	embryonic stem cell:	embryo
11	chr7:136850736-136850786	AoSMC	blood vessel:	n/a
12	chr7:136850736-136850786	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:136850736-136850786	T-47D	breast:	n/a
14	chr7:136850736-136850786	HNPCEpiC	eye:	n/a
15	chr7:136850736-136850786	LNCaP	prostate:	n/a
16	chr7:136850736-136850786	HCPEpiC	choroid plexus:	n/a
17	chr7:136850736-136850786	HUVEC	blood vessel:	n/a
18	chr7:136850736-136850786	GM06990	blood:	n/a
19	chr7:136850736-136850786	BJ	skin:	n/a
20	chr7:136850736-136850786	AG04450	lung:	fetal
21	chr7:136850736-136850786	IMR90	lung:	fetal
22	chr7:136850736-136850786	MCF10A-Er-Src	breast:	n/a
23	chr7:136850736-136850786	U87	brain:	n/a
24	chr7:136850736-136850786	SAEC	small airway:	n/a
25	chr7:136850736-136850786	GM12892	blood:	n/a
26	chr7:136850736-136850786	HCM	heart:	n/a
27	chr7:136850736-136850786	NHDF-neo	bronchial:	n/a
28	chr7:136850736-136850786	Jurkat	blood:	n/a
29	chr7:136850736-136850786	MCF-7	breast:	n/a
30	chr7:136850736-136850786	Hela-S3	cervix:	n/a
31	chr7:136850736-136850786	AG10803	skin:	n/a
32	chr7:136850736-136850786	SK-N-SH_RA	brain:	n/a
33	chr7:136850736-136850786	PrEC	prostate:	n/a
34	chr7:136850736-136850786	NB4	blood:	n/a
35	chr7:136850736-136850786	AG04449	skin:	fetal
36	chr7:136850736-136850786	HL-60	blood:	n/a
37	chr7:136850736-136850786	A549	lung:	n/a
38	chr7:136850736-136850786	HRCEpiC	kidney:	n/a
39	chr7:136850736-136850786	HRPEpiC	eye:	n/a
40	chr7:136850736-136850786	GM19239	blood:	n/a
41	chr7:136850736-136850786	BE2_C	brain:	n/a
42	chr7:136850736-136850786	SKMC	muscle:	n/a
43	chr7:136850736-136850786	CMK	blood:	n/a
44	chr7:136850736-136850786	HepG2	liver:	n/a
45	chr7:136850736-136850786	ProgFib	skin:	n/a
46	chr7:136850736-136850786	RPTEC	kidney:	n/a
47	chr7:136850736-136850786	HEK293	kidney:	embryo
48	chr7:136850736-136850786	NH-A	brain:	n/a
49	chr7:136850736-136850786	GM12878	blood:	n/a
50	chr7:136850736-136850786	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000234352	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10264746	0.98[EUR][1000 genomes]
rs1425070	0.81[EUR][1000 genomes]
rs1425077	0.81[EUR][1000 genomes]
rs1425082	0.81[EUR][1000 genomes]
rs1425083	0.81[EUR][1000 genomes]
rs1647752	0.82[EUR][1000 genomes]
rs67499443	0.97[EUR][1000 genomes]
rs6975389	0.81[EUR][1000 genomes]
rs706556	0.98[EUR][1000 genomes]
rs72611531	0.81[EUR][1000 genomes]
rs832948	0.81[EUR][1000 genomes]
rs832951	0.80[EUR][1000 genomes]
rs832952	0.81[EUR][1000 genomes]
rs832953	0.81[EUR][1000 genomes]
rs832967	0.81[EUR][1000 genomes]
rs832968	0.81[EUR][1000 genomes]
rs832969	0.81[EUR][1000 genomes]
rs832971	0.81[EUR][1000 genomes]
rs832993	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs832998	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs833003	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833004	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833005	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833007	0.98[EUR][1000 genomes]
rs833008	0.98[EUR][1000 genomes]
rs833009	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833010	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833022	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1028902	chr7:136727136-136858804	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv464730	chr7:136825522-136882925	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv608463	chr7:136825522-136882925	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1034546	chr7:136832263-136858804	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136849600-136851200	Enhancers	Fetal Stomach	stomach
2	chr7:136850000-136851200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:136850400-136850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:136850400-136854000	Weak transcription	Fetal Kidney	kidney
5	chr7:136850600-136851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links