Variant report

Variant	rs7120616
Chromosome Location	chr11:9622923-9622924
allele	G/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	RELA	chr11:9622917-9623469	GM18526	blood:	n/a	n/a
2	PML	chr11:9622611-9623654	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:9622900-9623585	GM12878	blood:	n/a	chr11:9623154-9623163
4	MTA3	chr11:9621998-9623685	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:9622773-9623173	U87	brain:	n/a	n/a
6	BATF	chr11:9622909-9623535	GM12878	blood:	n/a	n/a
7	MTA3	chr11:9622623-9623636	GM12878	blood:	n/a	n/a
8	RUNX3	chr11:9622637-9623852	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
9	MEF2A	chr11:9622827-9623590	GM12878	blood:	n/a	chr11:9622862-9622870
10	NFATC1	chr11:9622806-9623649	GM12878	blood:	n/a	n/a
11	SP1	chr11:9622903-9623409	GM12878	blood:	n/a	chr11:9622965-9622979
12	MAX	chr11:9622712-9623453	NB4	blood:	n/a	n/a
13	POU2F2	chr11:9622727-9623591	GM12891	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
14	CHD1	chr11:9622826-9623584	GM12878	blood:	n/a	n/a
15	RELA	chr11:9622172-9623609	GM18951	blood:	n/a	n/a
16	POLR2A	chr11:9622781-9623467	GM12891	blood:	n/a	n/a
17	STAT5A	chr11:9622732-9623644	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:9622721-9623391	PFSK-1	brain:	n/a	n/a
19	CEBPB	chr11:9622689-9623714	GM12878	blood:	n/a	n/a
20	SPI1	chr11:9622150-9623315	GM12878	blood:	n/a	n/a
21	NFATC1	chr11:9622197-9623503	GM12878	blood:	n/a	chr11:9622605-9622619
22	ELF1	chr11:9622615-9623596	GM12878	blood:	n/a	chr11:9623059-9623072
23	MAZ	chr11:9622894-9623580	GM12878	blood:	n/a	chr11:9623527-9623537 chr11:9623526-9623541
24	TAF1	chr11:9622897-9623385	PFSK-1	brain:	n/a	n/a
25	TBL1XR1	chr11:9622734-9623606	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:9622551-9623289	GM12878	blood:	n/a	n/a
27	RUNX3	chr11:9622168-9623743	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
28	WRNIP1	chr11:9622599-9623479	GM12878	blood:	n/a	n/a
29	TCF3	chr11:9622226-9623567	GM12878	blood:	n/a	n/a
30	BCLAF1	chr11:9622707-9623588	GM12878	blood:	n/a	chr11:9623154-9623163
31	POLR2A	chr11:9622530-9623437	HL-60	blood:	n/a	n/a
32	PAX5	chr11:9622722-9623541	GM12878	blood:	n/a	n/a
33	GABPA	chr11:9622838-9623444	HL-60	blood:	n/a	n/a
34	POLR2A	chr11:9622736-9623276	GM12891	blood:	n/a	n/a
35	RELA	chr11:9622809-9623519	GM10847	blood:	n/a	n/a
36	POLR2A	chr11:9622689-9623298	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr11:9622048-9623561	GM12891	blood:	n/a	n/a
38	NFIC	chr11:9622711-9623672	GM12878	blood:	n/a	n/a
39	POU2F2	chr11:9622612-9623640	GM12878	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
40	PAX5	chr11:9622797-9623695	GM12878	blood:	n/a	n/a
41	MAX	chr11:9622778-9623564	GM12878	blood:	n/a	chr11:9623527-9623537 chr11:9623526-9623541
42	POU2F2	chr11:9622569-9623677	GM12891	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
43	BCLAF1	chr11:9622788-9623746	GM12878	blood:	n/a	chr11:9623154-9623163
44	POLR2A	chr11:9622853-9623188	GM12891	blood:	n/a	n/a
45	EBF1	chr11:9622711-9623635	GM12878	blood:	n/a	n/a
46	EBF1	chr11:9622272-9623558	GM12878	blood:	n/a	n/a
47	TCF3	chr11:9622813-9623534	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:9622630-9623333	GM12892	blood:	n/a	n/a
49	RELA	chr11:9622163-9623620	GM12891	blood:	n/a	n/a
50	POU2F2	chr11:9622850-9623417	GM12878	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111

No.	Distal block	Cell Line	Cell type
1	chr11:9622499..9625012-chr11:9634792..9636736,2	K562	blood:
2	chr11:9620438..9623040-chr11:9627424..9629969,2	K562	blood:
3	chr11:9616144..9619684-chr11:9621223..9625658,6	K562	blood:

Variant related genes	Relation type
ENSG00000243964	TF binding region
ENSG00000243964	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10770044	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10840287	1.00[YRI][hapmap]
rs11042411	1.00[YRI][hapmap]
rs11042433	0.81[AMR][1000 genomes]
rs11042436	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11042437	0.81[CEU][hapmap]
rs11042438	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11042439	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042441	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042443	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042466	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs11600183	1.00[YRI][hapmap]
rs12422111	0.81[AMR][1000 genomes]
rs12807017	0.95[CEU][hapmap]
rs35042828	0.81[AMR][1000 genomes]
rs35084800	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36084509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910487	0.86[CEU][hapmap]
rs7123263	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
2	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
4	chr11:9611400-9623400	Weak transcription	Fetal Lung	lung
5	chr11:9612000-9623200	Weak transcription	Liver	Liver
6	chr11:9612600-9623000	Weak transcription	HUVEC	blood vessel
7	chr11:9621800-9623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9621800-9623400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:9621800-9623600	Enhancers	HMEC	breast
10	chr11:9621800-9624200	Flanking Active TSS	GM12878-XiMat	blood
11	chr11:9622000-9623400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:9622000-9623600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:9622000-9623600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:9622000-9623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:9622000-9623600	Enhancers	Spleen	Spleen
16	chr11:9622000-9623600	Enhancers	NHDF-Ad	bronchial
17	chr11:9622000-9624000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:9622200-9623200	Enhancers	Adipose Nuclei	Adipose
19	chr11:9622200-9623400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:9622200-9623400	Enhancers	Lung	lung
21	chr11:9622200-9623600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:9622200-9623600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:9622200-9623600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:9622200-9623600	Enhancers	Placenta	Placenta
25	chr11:9622200-9624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:9622200-9624200	Enhancers	NHLF	lung
27	chr11:9622200-9624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:9622200-9624400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:9622400-9623000	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:9622400-9623200	Enhancers	Small Intestine	intestine
31	chr11:9622400-9623600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:9622400-9623600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:9622400-9623600	Flanking Active TSS	Dnd41	blood
34	chr11:9622400-9624200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:9622600-9623000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9622600-9623000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:9622600-9623000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:9622600-9623000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:9622600-9623000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:9622600-9623000	Enhancers	Brain Germinal Matrix	brain
41	chr11:9622600-9623000	Enhancers	Colonic Mucosa	Colon
42	chr11:9622600-9623000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr11:9622600-9623000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:9622600-9623000	Flanking Active TSS	HepG2	liver
45	chr11:9622600-9623000	Flanking Active TSS	HSMM	muscle
46	chr11:9622600-9623000	Flanking Active TSS	HSMMtube	muscle
47	chr11:9622600-9623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:9622600-9623200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:9622600-9623200	Enhancers	Fetal Intestine Large	intestine
50	chr11:9622600-9623200	Flanking Active TSS	Fetal Thymus	thymus

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