Variant report

Variant	rs12806196
Chromosome Location	chr11:63971083-63971084
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63970958-63971377	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:63969995-63972565	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:63970382-63971238	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:63971002-63971294	K562	blood:	n/a	n/a
5	POLR2A	chr11:63970930-63972690	K562	blood:	n/a	n/a
6	POLR2A	chr11:63970525-63971425	K562	blood:	n/a	n/a
7	POLR2A	chr11:63969897-63972709	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:63971062-63971109	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
2	chr11:63970860..63973755-chr11:64067299..64070043,2	MCF-7	breast:
3	chr11:63932237..63935005-chr11:63969874..63971968,3	MCF-7	breast:
4	chr11:63962555..63965577-chr11:63969576..63973064,3	MCF-7	breast:
5	chr11:63951738..63954910-chr11:63969305..63972187,3	MCF-7	breast:

No data

Variant related genes	Relation type
FERMT3	TF binding region
ENSG00000219435	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11549690	1.00[LWK][hapmap]
rs12277260	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs2701536	1.00[CHB][hapmap]
rs35169799	1.00[LWK][hapmap]
rs618850	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 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	chr11:63955200-63971600	Strong transcription	Fetal Intestine Small	intestine
2	chr11:63955200-63974400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:63955200-63975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:63955200-63975200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:63955800-63971200	Strong transcription	Fetal Stomach	stomach
6	chr11:63955800-63975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:63956000-63973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:63956200-63974200	Weak transcription	Right Atrium	heart
9	chr11:63957000-63971200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:63957000-63971400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:63957400-63972000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:63957400-63974800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:63957400-63975800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:63958200-63971200	Strong transcription	Hela-S3	cervix
15	chr11:63959200-63972200	Strong transcription	Lung	lung
16	chr11:63959400-63971600	Strong transcription	Placenta	Placenta
17	chr11:63959400-63972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:63959400-63972000	Strong transcription	Thymus	Thymus
19	chr11:63959600-63971400	Strong transcription	A549	lung
20	chr11:63959600-63975000	Strong transcription	NHEK	skin
21	chr11:63959600-63976000	Strong transcription	Fetal Brain Female	brain
22	chr11:63959600-63977000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:63959800-63971600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:63959800-63971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:63959800-63971600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:63959800-63971600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:63959800-63971800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:63959800-63971800	Strong transcription	Primary T cells from cord blood	blood
29	chr11:63959800-63971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:63959800-63971800	Strong transcription	Adipose Nuclei	Adipose
31	chr11:63959800-63971800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:63959800-63971800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:63959800-63971800	Strong transcription	Osteobl	bone
34	chr11:63959800-63973400	Strong transcription	Right Ventricle	heart
35	chr11:63959800-63976000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:63960000-63971200	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:63960000-63971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:63960000-63971600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:63960000-63971600	Strong transcription	Colonic Mucosa	Colon
40	chr11:63960000-63971600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:63960000-63971600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:63960000-63971800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:63960000-63971800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:63960000-63971800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:63960000-63971800	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:63960000-63971800	Strong transcription	Fetal Intestine Large	intestine
47	chr11:63960000-63971800	Strong transcription	Rectal Smooth Muscle	rectum
48	chr11:63960000-63972200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr11:63960000-63972200	Strong transcription	Left Ventricle	heart
50	chr11:63960000-63972200	Strong transcription	HepG2	liver

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