Variant report

Variant	rs7105257
Chromosome Location	chr11:64626154-64626155
allele	A/G
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	chr11:64625998-64627999	GM18505	blood:	n/a	n/a
2	EBF1	chr11:64625950-64627591	GM12878	blood:	n/a	n/a
3	PML	chr11:64625805-64627653	GM12878	blood:	n/a	n/a
4	YY1	chr11:64625923-64626250	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64625767-64628200	GM12892	blood:	n/a	n/a
6	ELF1	chr11:64625854-64626778	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:64625868-64626615	GM12892	blood:	n/a	n/a
8	RELA	chr11:64626000-64627533	GM15510	blood:	n/a	n/a
9	RUNX3	chr11:64625915-64627906	GM12878	blood:	n/a	n/a
10	BCLAF1	chr11:64626107-64626729	GM12878	blood:	n/a	n/a
11	USF2	chr11:64626116-64626359	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:64625851-64626767	GM12878	blood:	n/a	n/a
13	NFATC1	chr11:64625931-64626723	GM12878	blood:	n/a	n/a
14	PAX5	chr11:64625895-64627521	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64626076-64626265	HUVEC	blood vessel:	n/a	n/a
16	PBX3	chr11:64626014-64626183	GM12878	blood:	n/a	chr11:64626118-64626127
17	MTA3	chr11:64625827-64627988	GM12878	blood:	n/a	n/a
18	NR2F2	chr11:64625902-64626193	K562	blood:	n/a	n/a
19	POLR2A	chr11:64625785-64627551	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:64625833-64626782	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:64625809-64628309	GM12878	blood:	n/a	n/a
22	CTCF	chr11:64626120-64626270	GM12872	blood:	n/a	chr11:64626215-64626228 chr11:64626219-64626228
23	POLR2A	chr11:64615614-64641325	GM12878	blood:	n/a	n/a
24	MTA3	chr11:64625974-64626658	GM12878	blood:	n/a	n/a
25	RELA	chr11:64626012-64627387	GM19099	blood:	n/a	n/a
26	MAX	chr11:64626059-64626194	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:64625937-64626762	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:64625837-64628295	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:64625876-64626732	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:64626067-64626867	GM12878	blood:	n/a	n/a
31	PBX3	chr11:64625983-64626232	GM12878	blood:	n/a	chr11:64626118-64626127
32	POLR2A	chr11:64625891-64626663	GM12891	blood:	n/a	n/a
33	RUNX3	chr11:64625860-64627989	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:64625769-64628340	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:64626144-64626498	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:64625883-64626449	Hela-S3	cervix:	n/a	n/a
37	EP300	chr11:64625991-64626525	GM12878	blood:	n/a	n/a
38	FOS	chr11:64626114-64626169	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT5A	chr11:64625800-64626442	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64620201-64626490..11:64658316-64660295	Hela-S3	cervix:

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000267804	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000207648	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17146407	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3888184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3888185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56326606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61458234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123368	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
5	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	1028 gene(s)	inside rSNPs	diseases
11	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
12	esv992888	chr11:64624637-64626194	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:64617200-64627600	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:64617200-64627600	Genic enhancers	NHLF	lung
6	chr11:64617600-64629600	Weak transcription	Fetal Brain Male	brain
7	chr11:64618600-64626200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr11:64618600-64626200	Genic enhancers	Thymus	Thymus
9	chr11:64618600-64628000	Genic enhancers	Fetal Intestine Large	intestine
10	chr11:64618800-64627800	Strong transcription	Brain Germinal Matrix	brain
11	chr11:64618800-64627800	Strong transcription	Fetal Brain Female	brain
12	chr11:64618800-64627800	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:64619000-64626600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:64619000-64627800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:64619000-64628200	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr11:64619200-64626200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:64619200-64626400	Genic enhancers	Fetal Thymus	thymus
18	chr11:64619200-64626400	Genic enhancers	Gastric	stomach
19	chr11:64619200-64627800	Genic enhancers	Adipose Nuclei	Adipose
20	chr11:64619200-64628000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:64619200-64628000	Genic enhancers	Spleen	Spleen
22	chr11:64619200-64630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:64619400-64626600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:64619400-64626600	Genic enhancers	HMEC	breast
25	chr11:64619600-64626200	Genic enhancers	Liver	Liver
26	chr11:64619800-64626400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:64619800-64628000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:64619800-64628000	Genic enhancers	Right Ventricle	heart
29	chr11:64619800-64632400	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr11:64620800-64626400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:64620800-64627800	Genic enhancers	Esophagus	oesophagus
32	chr11:64620800-64628200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:64620800-64630200	Weak transcription	Fetal Kidney	kidney
34	chr11:64621600-64626200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:64621800-64627600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:64621800-64627800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:64621800-64628000	Enhancers	Right Atrium	heart
38	chr11:64622000-64626400	Enhancers	Small Intestine	intestine
39	chr11:64622800-64630400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:64623000-64626600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:64623000-64628000	Genic enhancers	Placenta	Placenta
42	chr11:64623000-64630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:64623200-64626200	Enhancers	Primary T cells from cord blood	blood
44	chr11:64623200-64626200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:64623200-64626400	Enhancers	Stomach Mucosa	stomach
46	chr11:64623200-64627400	Genic enhancers	HSMM	muscle
47	chr11:64623200-64629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:64623200-64630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:64623400-64626800	Genic enhancers	Muscle Satellite Cultured Cells	--

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