Variant report

Variant	rs2306925
Chromosome Location	chr6:34026948-34026949
allele	C/T
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:3)
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	chr6:34026903-34026953	SK-N-SH_RA	brain:	n/a
2	chr6:34026903-34026953	HEK293	kidney:	embryo
3	chr6:34026903-34026953	GM12892	blood:	n/a
4	chr6:34026903-34026953	CMK	blood:	n/a
5	chr6:34026903-34026953	NB4	blood:	n/a
6	chr6:34026903-34026953	T-47D	breast:	n/a
7	chr6:34026903-34026953	ECC-1	luminal epithelium:	n/a
8	chr6:34026903-34026953	Jurkat	blood:	n/a
9	chr6:34026903-34026953	MCF10A-Er-Src	breast:	n/a
10	chr6:34026903-34026953	AG04449	skin:	fetal
11	chr6:34026903-34026953	GM12878	blood:	n/a
12	chr6:34026903-34026953	NHBE	bronchial:	n/a
13	chr6:34026903-34026953	SK-N-SH	brain:	n/a
14	chr6:34026903-34026953	H1-hESC	embryonic stem cell:	embryo
15	chr6:34026903-34026953	HRCEpiC	kidney:	n/a
16	chr6:34026903-34026953	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:34026903-34026953	HAEpiC	amniotic membrane:	n/a
18	chr6:34026903-34026953	K562	blood:	n/a
19	chr6:34026903-34026953	SK-N-MC	brain:	n/a
20	chr6:34026903-34026953	AG09309	skin:	n/a
21	chr6:34026903-34026953	SKMC	muscle:	n/a
22	chr6:34026903-34026953	HRPEpiC	eye:	n/a
23	chr6:34026903-34026953	A549	lung:	n/a
24	chr6:34026903-34026953	HCT-116	colon:	n/a
25	chr6:34026903-34026953	PFSK-1	brain:	n/a
26	chr6:34026903-34026953	SAEC	small airway:	n/a
27	chr6:34026903-34026953	ProgFib	skin:	n/a
28	chr6:34026903-34026953	PANC-1	pancreas:	n/a
29	chr6:34026903-34026953	HMEC	breast:	n/a
30	chr6:34026903-34026953	RPTEC	kidney:	n/a
31	chr6:34026903-34026953	GM06990	blood:	n/a
32	chr6:34026903-34026953	Hela-S3	cervix:	n/a
33	chr6:34026903-34026953	GM19239	blood:	n/a
34	chr6:34026903-34026953	HCF	heart:	n/a
35	chr6:34026903-34026953	ovcar-3	ovarian:	n/a
36	chr6:34026903-34026953	AG09319	gingival:	n/a
37	chr6:34026903-34026953	GM12891	blood:	n/a
38	chr6:34026903-34026953	HEEpiC	esophagus:	n/a
39	chr6:34026903-34026953	NT2-D1	testis:	n/a
40	chr6:34026903-34026953	AG10803	skin:	n/a
41	chr6:34026903-34026953	Hepatocyte	liver:	n/a
42	chr6:34026903-34026953	NH-A	brain:	n/a
43	chr6:34026903-34026953	MCF-7	breast:	n/a
44	chr6:34026903-34026953	U87	brain:	n/a
45	chr6:34026903-34026953	HL-60	blood:	n/a
46	chr6:34026903-34026953	AoSMC	blood vessel:	n/a
47	chr6:34026903-34026953	NHDF-neo	bronchial:	n/a
48	chr6:34026903-34026953	PrEC	prostate:	n/a
49	chr6:34026903-34026953	HCM	heart:	n/a
50	chr6:34026903-34026953	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34022602..34024513-chr6:34024525..34027484,2	K562	blood:
2	chr6:34024186..34027778-chr6:34033635..34036854,3	K562	blood:
3	chr6:34026017..34027885-chr6:34027983..34029825,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRM4	CpG island
ENSG00000124493	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13219562	1.00[CEU][hapmap]
rs2260612	0.82[CHB][hapmap]
rs2395550	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2451341	1.00[CEU][hapmap]
rs2451344	1.00[CEU][hapmap]
rs2499691	1.00[CEU][hapmap]
rs2499695	1.00[CEU][hapmap]
rs3103429	1.00[JPT][hapmap]
rs3103431	1.00[CEU][hapmap]
rs3778062	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs3798531	1.00[AMR][1000 genomes]
rs4472348	1.00[CEU][hapmap]

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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv462901	chr6:33953646-34050917	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv602861	chr6:33953646-34050917	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34002800-34027000	Weak transcription	Spleen	Spleen
2	chr6:34024000-34036000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:34024800-34027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:34024800-34027400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:34025000-34027000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:34025000-34036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
8	chr6:34025200-34035800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34025200-34036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:34025200-34039600	Weak transcription	Gastric	stomach
11	chr6:34025600-34027000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr6:34025800-34028000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:34026600-34027800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:34026800-34027000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr6:34026800-34027400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:34026800-34027800	Enhancers	HSMM	muscle
17	chr6:34026800-34027800	Enhancers	Osteobl	bone

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