Variant report

Variant	rs7122294
Chromosome Location	chr11:3816102-3816103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:3816059-3816202	K562	blood:	n/a	n/a
2	POLR2A	chr11:3815689-3816247	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:3816051-3819517	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:3815383-3816213	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:3815973-3816141	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3815537..3818080-chr11:3829335..3832010,3	K562	blood:
2	chr11:3815253..3816914-chr11:3817016..3818903,2	MCF-7	breast:
3	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
4	chr11:3792691..3794199-chr11:3815236..3817396,2	MCF-7	breast:
5	chr11:3810141..3811927-chr11:3815704..3818583,2	K562	blood:
6	chr11:3813727..3817050-chr11:3817081..3819482,4	K562	blood:

No data

Variant related genes	Relation type
PGAP2	TF binding region
ENSG00000110713	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs12269960	1.00[ASN][1000 genomes]
rs12271649	1.00[ASN][1000 genomes]
rs12277623	1.00[ASN][1000 genomes]
rs12277783	1.00[ASN][1000 genomes]
rs12282367	1.00[ASN][1000 genomes]
rs12284297	1.00[ASN][1000 genomes]
rs12285688	1.00[ASN][1000 genomes]
rs12293627	1.00[CHB][hapmap]
rs12293671	1.00[ASN][1000 genomes]
rs12295219	1.00[ASN][1000 genomes]
rs1567923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs16925377	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16929762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231546	1.00[ASN][1000 genomes]
rs2231547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35404087	1.00[ASN][1000 genomes]
rs35803045	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910530	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs4910565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910639	1.00[ASN][1000 genomes]
rs4910654	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910695	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910710	0.96[EUR][1000 genomes]
rs4910711	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910712	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910797	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910798	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910799	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910800	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910805	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910806	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910808	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910814	1.00[ASN][1000 genomes]
rs55798582	1.00[ASN][1000 genomes]
rs56702085	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59617039	0.88[EUR][1000 genomes]
rs60726516	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61508984	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751339	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877577	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877578	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877581	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877582	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877583	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877584	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877592	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877594	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877595	0.94[EUR][1000 genomes]
rs61877596	0.94[EUR][1000 genomes]
rs61877597	0.94[EUR][1000 genomes]
rs61877598	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877601	0.98[EUR][1000 genomes]
rs61877602	0.95[EUR][1000 genomes]
rs61877604	0.98[EUR][1000 genomes]
rs61877626	0.98[EUR][1000 genomes]
rs61877627	0.98[EUR][1000 genomes]
rs61877628	0.98[EUR][1000 genomes]
rs61877629	0.98[EUR][1000 genomes]
rs61877630	0.98[EUR][1000 genomes]
rs61877631	0.98[EUR][1000 genomes]
rs61877632	0.98[EUR][1000 genomes]
rs61878509	1.00[ASN][1000 genomes]
rs61878531	1.00[ASN][1000 genomes]
rs61878539	1.00[ASN][1000 genomes]
rs61878540	1.00[ASN][1000 genomes]
rs61878542	1.00[ASN][1000 genomes]
rs61878543	1.00[ASN][1000 genomes]
rs61878551	1.00[ASN][1000 genomes]
rs61878553	1.00[ASN][1000 genomes]
rs61878554	1.00[ASN][1000 genomes]
rs61878555	1.00[ASN][1000 genomes]
rs61878556	1.00[ASN][1000 genomes]
rs61879789	1.00[ASN][1000 genomes]
rs61879790	1.00[ASN][1000 genomes]
rs61879791	1.00[ASN][1000 genomes]
rs61879792	1.00[ASN][1000 genomes]
rs61879795	1.00[ASN][1000 genomes]
rs61879797	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879798	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879799	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879800	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879801	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879830	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879831	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879832	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879982	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879984	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896888	0.98[EUR][1000 genomes]
rs61896889	0.98[EUR][1000 genomes]
rs61896890	0.98[EUR][1000 genomes]
rs61896891	0.98[EUR][1000 genomes]
rs61896892	0.98[EUR][1000 genomes]
rs61896893	0.98[EUR][1000 genomes]
rs61896894	0.96[EUR][1000 genomes]
rs61896897	0.98[EUR][1000 genomes]
rs61896898	0.96[EUR][1000 genomes]
rs61896899	0.98[EUR][1000 genomes]
rs61896900	0.93[EUR][1000 genomes]
rs61896901	0.96[EUR][1000 genomes]
rs61896917	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896918	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896919	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896920	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896921	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896922	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896923	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896925	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998205	1.00[ASN][1000 genomes]
rs7105207	1.00[ASN][1000 genomes]
rs7111156	1.00[ASN][1000 genomes]
rs7118870	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844330	1.00[ASN][1000 genomes]
rs72844332	1.00[ASN][1000 genomes]
rs72844335	1.00[ASN][1000 genomes]
rs72844387	1.00[ASN][1000 genomes]
rs72844389	1.00[ASN][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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 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	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:3780600-3817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3793800-3816800	Weak transcription	Fetal Heart	heart
4	chr11:3793800-3817000	Weak transcription	Fetal Brain Male	brain
5	chr11:3800400-3816400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:3800400-3816400	Weak transcription	Small Intestine	intestine
7	chr11:3800400-3817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:3800400-3817600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:3800600-3816400	Weak transcription	Colonic Mucosa	Colon
10	chr11:3800600-3817000	Weak transcription	HSMMtube	muscle
11	chr11:3800600-3817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:3808400-3816400	Strong transcription	Fetal Stomach	stomach
13	chr11:3808400-3816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:3808800-3816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:3808800-3816600	Weak transcription	NHLF	lung
16	chr11:3808800-3816800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:3808800-3817000	Weak transcription	NHDF-Ad	bronchial
18	chr11:3809000-3817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:3810400-3816200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:3810800-3816800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:3811000-3816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:3811200-3816200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:3811200-3816600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:3811200-3816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:3811200-3816800	Strong transcription	Fetal Intestine Large	intestine
26	chr11:3811200-3817000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:3811400-3816200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:3811400-3816400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:3811800-3816400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:3812200-3816400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:3812800-3816200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:3812800-3816400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:3812800-3816400	Strong transcription	Fetal Lung	lung
34	chr11:3812800-3816600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:3813200-3816200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:3813200-3816600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:3813200-3816600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:3813400-3816200	Strong transcription	HSMM	muscle
39	chr11:3813400-3816400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:3813400-3816600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:3813400-3817000	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr11:3813600-3816200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:3813600-3817000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:3813800-3816400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:3814000-3816800	Weak transcription	Fetal Kidney	kidney
46	chr11:3814200-3816200	Strong transcription	Brain Germinal Matrix	brain
47	chr11:3814200-3816800	Genic enhancers	Left Ventricle	heart
48	chr11:3814600-3816600	Weak transcription	NHEK	skin
49	chr11:3814800-3816400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:3814800-3816600	Weak transcription	Muscle Satellite Cultured Cells	--

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