Variant report

Variant	rs6959881
Chromosome Location	chr7:102948816-102948817
allele	C/T
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	chr7:102948470-102948871	K562	blood:	n/a	n/a
2	POLR2A	chr7:102948266-102948822	GM12892	blood:	n/a	n/a
3	NFIC	chr7:102947903-102948860	SK-N-SH	brain:	n/a	chr7:102948448-102948465 chr7:102948449-102948466 chr7:102948697-102948713 chr7:102948448-102948464
4	POLR2A	chr7:102947788-102949927	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:102948780-102949082	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:102948754-102948872	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:102947937-102949517	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:102948497-102948840	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:102948623-102948893	K562	blood:	n/a	n/a
10	NFIC	chr7:102948060-102948874	ECC-1	luminal epithelium:	n/a	chr7:102948448-102948465 chr7:102948449-102948466 chr7:102948697-102948713 chr7:102948448-102948464
11	POLR2A	chr7:102948463-102948883	HUVEC	blood vessel:	n/a	n/a
12	NFIC	chr7:102948126-102948819	ECC-1	luminal epithelium:	n/a	chr7:102948448-102948465 chr7:102948449-102948466 chr7:102948697-102948713 chr7:102948448-102948464
13	POLR2A	chr7:102948744-102948866	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:102948415-102949597	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr7:102948360-102948888	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr7:102948811-102948874	K562	blood:	n/a	n/a
17	POLR2A	chr7:102948418-102948835	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102946980..102949686-chr7:103019517..103021353,2	K562	blood:
2	chr7:102946730..102948829-chr7:102955454..102957665,3	K562	blood:
3	chr7:102937906..102941982-chr7:102947783..102950919,3	MCF-7	breast:
4	chr7:102945838..102949503-chr7:103019550..103022202,3	K562	blood:

Variant related genes	Relation type
PMPCB	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12669855	0.83[EUR][1000 genomes]
rs17156122	0.81[EUR][1000 genomes]
rs55801500	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102938400-102957000	Weak transcription	Spleen	Spleen
2	chr7:102938600-102951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:102938600-102957000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:102938600-102984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:102938800-102957000	Weak transcription	Aorta	Aorta
6	chr7:102939000-102965200	Weak transcription	Right Ventricle	heart
7	chr7:102939000-102969200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:102939200-102949600	Strong transcription	Left Ventricle	heart
9	chr7:102939200-102962000	Weak transcription	Right Atrium	heart
10	chr7:102939200-102967400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:102939200-102968400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:102939200-102968400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:102939200-102972400	Strong transcription	Fetal Thymus	thymus
14	chr7:102939400-102950800	Weak transcription	Small Intestine	intestine
15	chr7:102939400-102958800	Weak transcription	Gastric	stomach
16	chr7:102939400-102964800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:102939400-102965600	Strong transcription	Fetal Lung	lung
18	chr7:102939400-102966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:102939400-102967800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:102939400-102967800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:102939400-102968000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:102939400-102968000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr7:102939400-102968200	Strong transcription	Placenta	Placenta
24	chr7:102939400-102968200	Strong transcription	HSMM	muscle
25	chr7:102939400-102969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:102939600-102949600	Strong transcription	Thymus	Thymus
27	chr7:102939600-102963200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:102939600-102965400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:102939600-102966800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:102939600-102968000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:102939600-102968000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:102939600-102968000	Strong transcription	Fetal Intestine Large	intestine
33	chr7:102939600-102968000	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:102939600-102968400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:102939600-102968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:102939600-102968600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:102939600-102969800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:102939600-102970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:102939800-102949600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:102939800-102952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:102939800-102959600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr7:102939800-102960600	Strong transcription	NH-A	brain
43	chr7:102939800-102960800	Strong transcription	Brain Germinal Matrix	brain
44	chr7:102939800-102962400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:102939800-102968000	Strong transcription	Adipose Nuclei	Adipose
46	chr7:102939800-102968000	Strong transcription	Osteobl	bone
47	chr7:102939800-102968200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:102939800-102968200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:102939800-102968200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:102939800-102969800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links