Variant report

Variant	rs7950596
Chromosome Location	chr11:63969497-63969498
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	chr11:63969153-63969620	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:63969492-63969598	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:63969452-63969508	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
2	chr11:63951738..63954910-chr11:63969305..63972187,3	MCF-7	breast:

Variant related genes	Relation type
FERMT3	TF binding region
STIP1	TF binding region
ENSG00000173113	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10897477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231700	1.00[CEU][hapmap]
rs11231706	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1124660	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs12283842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320688	0.87[CHD][hapmap]
rs1468558	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17158870	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17159027	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2079786	1.00[MEX][hapmap]
rs2232410	0.87[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2286612	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2302262	1.00[JPT][hapmap]
rs3751120	0.92[GIH][hapmap]
rs493052	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs57052719	0.83[ASN][1000 genomes]
rs58009222	0.88[ASN][1000 genomes]
rs58694215	0.88[ASN][1000 genomes]
rs58747362	1.00[ASN][1000 genomes]
rs59747132	0.88[ASN][1000 genomes]
rs60095771	0.88[ASN][1000 genomes]
rs60571265	0.86[ASN][1000 genomes]
rs61143549	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61629200	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7123004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7952435	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7950596	RARRES3	cis	lymphoblastoid	seeQTL

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	chr11:63956400-63970200	Weak transcription	Stomach Mucosa	stomach
10	chr11:63957000-63970600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:63957000-63971200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:63957000-63971400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:63957400-63971000	Strong transcription	Dnd41	blood
14	chr11:63957400-63972000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:63957400-63974800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:63957400-63975800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:63957600-63970400	Strong transcription	Fetal Thymus	thymus
18	chr11:63958200-63971200	Strong transcription	Hela-S3	cervix
19	chr11:63959200-63972200	Strong transcription	Lung	lung
20	chr11:63959400-63971600	Strong transcription	Placenta	Placenta
21	chr11:63959400-63972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:63959400-63972000	Strong transcription	Thymus	Thymus
23	chr11:63959600-63971400	Strong transcription	A549	lung
24	chr11:63959600-63975000	Strong transcription	NHEK	skin
25	chr11:63959600-63976000	Strong transcription	Fetal Brain Female	brain
26	chr11:63959600-63977000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:63959800-63971000	Strong transcription	GM12878-XiMat	blood
28	chr11:63959800-63971600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:63959800-63971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:63959800-63971600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:63959800-63971600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:63959800-63971800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:63959800-63971800	Strong transcription	Primary T cells from cord blood	blood
34	chr11:63959800-63971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:63959800-63971800	Strong transcription	Adipose Nuclei	Adipose
36	chr11:63959800-63971800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:63959800-63971800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:63959800-63971800	Strong transcription	Osteobl	bone
39	chr11:63959800-63973400	Strong transcription	Right Ventricle	heart
40	chr11:63959800-63976000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:63960000-63970000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:63960000-63971200	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:63960000-63971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:63960000-63971600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:63960000-63971600	Strong transcription	Colonic Mucosa	Colon
46	chr11:63960000-63971600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:63960000-63971600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:63960000-63971800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:63960000-63971800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:63960000-63971800	Strong transcription	Brain Cingulate Gyrus	brain

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