Variant report

Variant	rs10261965
Chromosome Location	chr7:26234302-26234303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr7:26234021-26234555	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:26231477-26237614	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26233675-26235223	GM19193	blood:	n/a	n/a
5	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:26233945-26234450	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:26233030-26234416	HL-60	blood:	n/a	n/a
8	POLR2A	chr7:26233553-26234779	K562	blood:	n/a	n/a
9	POLR2A	chr7:26231542-26235280	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:26225899-26235179	K562	blood:	n/a	n/a
11	POLR2A	chr7:26232971-26234461	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:26225911-26234500	K562	blood:	n/a	n/a
14	POLR2A	chr7:26231584-26234693	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:26232976-26234742	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:26232411-26234652	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:26231560-26234757	PANC-1	pancreas:	n/a	n/a
20	JUND	chr7:26233987-26234333	A549	lung:	n/a	n/a
21	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:26225840-26234567	HepG2	liver:	n/a	n/a
23	MXI1	chr7:26234189-26234380	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:26233957-26234317	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
26	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
27	POLR2A	chr7:26229811-26234632	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr7:26234150-26234570	U87	brain:	n/a	n/a
29	POLR2A	chr7:26231490-26235276	K562	blood:	n/a	n/a
30	POLR2A	chr7:26234105-26234368	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
32	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
33	POLR2A	chr7:26233950-26234704	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:26230952-26235352	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
36	ZNF384	chr7:26234282-26234466	K562	blood:	n/a	n/a
37	HEY1	chr7:26234104-26234668	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
39	ZNF263	chr7:26233188-26234360	HEK293-T-REx	kidney:	n/a	n/a
40	POLR2A	chr7:26234122-26234325	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:26233896-26234635	GM12891	blood:	n/a	n/a
42	POLR2A	chr7:26234111-26234371	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:26232942-26235243	GM12891	blood:	n/a	n/a
45	POLR2A	chr7:26234117-26234331	HCT-116	colon:	n/a	n/a
46	POLR2A	chr7:26225903-26235670	K562	blood:	n/a	n/a
47	POLR2A	chr7:26221711-26237534	GM12891	blood:	n/a	n/a
48	POLR2A	chr7:26233944-26234485	HUVEC	blood vessel:	n/a	n/a
49	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:26233562-26234436	HL-60	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26234108..26236318-chr7:26400894..26402821,2	MCF-7	breast:
2	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
3	chr7:26234275..26236316-chr7:26281778..26283500,2	MCF-7	breast:
4	chr7:26233799..26235344-chr7:26326340..26328388,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10225431	1.00[CEU][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238831	0.87[TSI][hapmap]
rs2269893	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28520327	0.87[AMR][1000 genomes];0.83[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	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10261965	FGFBP2	trans	lymphoblastoid	seeQTL
rs10261965	TNFRSF18	trans	lymphoblastoid	seeQTL
rs10261965	G0S2	trans	lymphoblastoid	seeQTL
rs10261965	GRASP	trans	lymphoblastoid	seeQTL
rs10261965	RCN3	trans	lymphoblastoid	seeQTL
rs10261965	FCRL2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26224000-26235000	Strong transcription	NH-A	brain
4	chr7:26224200-26235000	Strong transcription	NHEK	skin
5	chr7:26224400-26234400	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr7:26224800-26236000	Strong transcription	HSMM	muscle
7	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
8	chr7:26225800-26234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:26226000-26234800	Strong transcription	Thymus	Thymus
10	chr7:26226000-26235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26226400-26236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:26227000-26234800	Strong transcription	NHLF	lung
13	chr7:26227000-26235600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:26227400-26234800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:26227400-26236000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:26227600-26235400	Strong transcription	Colonic Mucosa	Colon
17	chr7:26227600-26235600	Strong transcription	Osteobl	bone
18	chr7:26227600-26236400	Strong transcription	Fetal Brain Female	brain
19	chr7:26227800-26234800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:26228000-26234400	Strong transcription	Fetal Lung	lung
21	chr7:26228000-26236000	Strong transcription	Fetal Brain Male	brain
22	chr7:26228000-26236200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:26228200-26236000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:26228200-26236000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:26228400-26235000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:26228400-26235600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:26228600-26236600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr7:26229200-26234800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:26229400-26236600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr7:26230400-26236800	Genic enhancers	Liver	Liver
34	chr7:26230600-26235400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:26230600-26236800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:26230800-26236600	Genic enhancers	Colon Smooth Muscle	Colon
37	chr7:26231200-26235400	Genic enhancers	Primary B cells from cord blood	blood
38	chr7:26231200-26236000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:26231600-26234800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:26231600-26236000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:26231600-26236200	Strong transcription	Esophagus	oesophagus
42	chr7:26231600-26236600	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr7:26231600-26236800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:26231600-26236800	Genic enhancers	Brain Substantia Nigra	brain
45	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
46	chr7:26231800-26235000	Genic enhancers	Fetal Intestine Small	intestine
47	chr7:26231800-26235000	Genic enhancers	K562	blood
48	chr7:26231800-26236800	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:26232000-26235600	Genic enhancers	Adipose Nuclei	Adipose

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