Variant report

Variant	rs12797319
Chromosome Location	chr11:65735672-65735673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65684043..65687085-chr11:65734464..65737631,4	MCF-7	breast:
2	chr11:65734489..65737321-chr5:81555450..81557223,2	MCF-7	breast:
3	chr11:65719988..65721495-chr11:65734406..65736713,2	K562	blood:
4	chr11:65733809..65735911-chr11:65768910..65770454,2	MCF-7	breast:
5	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
6	chr11:65734343..65736232-chr11:65738281..65740825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175573	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11227368	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1151505	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1151512	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1192168	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1204649	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12792888	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794370	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1308733	0.87[EUR][1000 genomes]
rs14157	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1786175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016868	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35049625	0.85[EUR][1000 genomes]
rs470192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs491973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493899	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500161	0.82[EUR][1000 genomes]
rs501353	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs503524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528736	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs531612	0.84[EUR][1000 genomes]
rs538954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551659	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs552130	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs556643	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs559078	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55928757	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994535	0.89[ASN][1000 genomes]
rs56154109	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56239996	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566590	0.85[EUR][1000 genomes]
rs574586	0.82[EUR][1000 genomes]
rs575479	0.80[EUR][1000 genomes]
rs589253	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs593525	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606978	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs613924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624273	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs632578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642293	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649000	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653236	0.80[EUR][1000 genomes]
rs653914	0.83[CHB][hapmap]
rs655744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659982	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs660118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs677029	0.83[CHB][hapmap]
rs679581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688862	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs7105628	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
4	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
6	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
7	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 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	chr11:65729800-65746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
3	chr11:65730800-65741600	Weak transcription	Fetal Heart	heart
4	chr11:65731000-65736000	Weak transcription	Psoas Muscle	Psoas
5	chr11:65731000-65736600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65731000-65737400	Strong transcription	Primary B cells from cord blood	blood
7	chr11:65731000-65738000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:65731000-65744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:65731200-65735800	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:65731200-65735800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:65731200-65738200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:65731200-65738200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
17	chr11:65731400-65736400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:65731400-65736400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:65731400-65736600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65731400-65737200	Strong transcription	Aorta	Aorta
21	chr11:65731400-65737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:65731400-65738000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:65731400-65738000	Strong transcription	Gastric	stomach
24	chr11:65731400-65738200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:65731400-65738200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:65731400-65738200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:65731400-65738200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:65731400-65738200	Strong transcription	Colonic Mucosa	Colon
29	chr11:65731400-65738200	Strong transcription	Fetal Lung	lung
30	chr11:65731400-65738200	Strong transcription	NHLF	lung
31	chr11:65731400-65738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:65731400-65738400	Strong transcription	Osteobl	bone
33	chr11:65731400-65741600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
36	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
37	chr11:65731600-65736600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr11:65731600-65736600	Strong transcription	K562	blood
39	chr11:65731600-65736800	Strong transcription	Esophagus	oesophagus
40	chr11:65731600-65737800	Strong transcription	HUVEC	blood vessel
41	chr11:65731600-65738200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:65731600-65738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:65731600-65738200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:65731600-65738200	Strong transcription	Fetal Intestine Large	intestine
45	chr11:65731600-65738200	Strong transcription	Pancreas	Pancrea
46	chr11:65731600-65738200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:65731600-65738400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:65731600-65738400	Strong transcription	Adipose Nuclei	Adipose
49	chr11:65731600-65738400	Strong transcription	Right Ventricle	heart
50	chr11:65731600-65738600	Strong transcription	Duodenum Mucosa	Duodenum

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