Variant report

Variant	rs3888185
Chromosome Location	chr11:64631039-64631040
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	chr11:64629387-64634963	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64630479-64633974	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:64630480-64631230	GM12891	blood:	n/a	n/a
4	NFATC1	chr11:64630264-64631295	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64630615-64634045	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:64630418-64632371	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:64630368-64633794	IMR90	lung:	n/a	n/a
8	POLR2A	chr11:64630682-64631430	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:64630682-64633977	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:64630901-64631202	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr11:64630418-64633243	GM12878	blood:	n/a	n/a
12	STAT5A	chr11:64630839-64634016	GM12878	blood:	n/a	chr11:64631964-64631976 chr11:64632355-64632367 chr11:64632408-64632420
13	POLR2A	chr11:64629559-64634892	GM12892	blood:	n/a	n/a
14	YY1	chr11:64630859-64631262	H1-hESC	embryonic stem cell:	n/a	chr11:64631103-64631114 chr11:64631103-64631117 chr11:64631106-64631120
15	POLR2A	chr11:64629711-64631304	U87	brain:	n/a	n/a
16	POLR2A	chr11:64615614-64641325	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64630169-64634772	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:64628429-64635030	GM12878	blood:	n/a	n/a
19	MAZ	chr11:64630252-64633641	IMR90	lung:	n/a	chr11:64632891-64632900
20	POLR2A	chr11:64630406-64634621	GM12892	blood:	n/a	n/a
21	MTA3	chr11:64630866-64634089	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:64629711-64634024	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64628928..64631911-chr11:64900094..64902138,2	MCF-7	breast:

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 17 )
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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56326606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61458234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105257	0.95[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:10 , 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	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:126 , 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	chr11:64619800-64632400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:64625400-64634200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:64627400-64633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:64627600-64633200	Enhancers	Fetal Thymus	thymus
8	chr11:64627800-64631600	Enhancers	Dnd41	blood
9	chr11:64627800-64633200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64628000-64631400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:64628000-64631600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:64628000-64632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:64628400-64633200	Enhancers	Right Atrium	heart
14	chr11:64628600-64633200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:64628600-64633200	Enhancers	Brain Substantia Nigra	brain
16	chr11:64628600-64633400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:64628600-64633600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr11:64628600-64633600	Enhancers	Placenta	Placenta
19	chr11:64628800-64631400	Genic enhancers	Fetal Intestine Small	intestine
20	chr11:64628800-64633000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:64628800-64633400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:64629000-64631200	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:64629000-64633000	Enhancers	Small Intestine	intestine
24	chr11:64629200-64631600	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:64629200-64632000	Weak transcription	HepG2	liver
26	chr11:64629400-64631600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:64629400-64632200	Genic enhancers	Fetal Stomach	stomach
28	chr11:64629400-64633000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:64629400-64633000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:64629400-64634000	Enhancers	Psoas Muscle	Psoas
31	chr11:64629600-64632200	Enhancers	Right Ventricle	heart
32	chr11:64629600-64632600	Enhancers	Fetal Lung	lung
33	chr11:64629600-64632800	Enhancers	Fetal Brain Male	brain
34	chr11:64629600-64633000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr11:64629600-64633800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:64629600-64638600	Enhancers	Left Ventricle	heart
37	chr11:64629800-64631200	Enhancers	Brain Hippocampus Middle	brain
38	chr11:64629800-64631200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:64629800-64631600	Enhancers	NHDF-Ad	bronchial
40	chr11:64629800-64631600	Genic enhancers	NHEK	skin
41	chr11:64629800-64632000	Enhancers	Fetal Muscle Leg	muscle
42	chr11:64629800-64632600	Enhancers	Brain Anterior Caudate	brain
43	chr11:64629800-64632600	Enhancers	HSMMtube	muscle
44	chr11:64629800-64632800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:64629800-64633000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:64629800-64633000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:64629800-64633000	Enhancers	Fetal Brain Female	brain
48	chr11:64629800-64633000	Enhancers	HUVEC	blood vessel
49	chr11:64629800-64633200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:64629800-64633200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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