Variant report

Variant	rs749322
Chromosome Location	chr11:34297384-34297385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34295466..34297998-chr11:34348756..34350438,2	MCF-7	breast:
2	chr11:34295781..34298473-chr11:34301568..34303802,2	MCF-7	breast:
3	chr11:34295969..34298454-chr11:34328816..34331408,3	MCF-7	breast:
4	chr11:34294490..34298865-chr11:34377987..34381842,6	MCF-7	breast:
5	chr11:34295678..34297424-chr11:34350802..34352838,2	MCF-7	breast:
6	chr11:34295302..34298402-chr11:34377411..34380929,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11032589	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364526	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925360	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2611107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755164	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756123	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756124	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56709002	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933213	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34285600-34299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34289000-34302600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:34293600-34299800	Weak transcription	HepG2	liver
4	chr11:34294200-34297600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:34294800-34297400	Enhancers	Fetal Lung	lung
6	chr11:34294800-34297400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:34294800-34299400	Enhancers	Placenta	Placenta
8	chr11:34295000-34297600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:34295000-34297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:34295000-34298600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:34295200-34297800	Enhancers	Pancreas	Pancrea
12	chr11:34295800-34297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:34295800-34297400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:34295800-34297400	Enhancers	HSMM	muscle
15	chr11:34295800-34297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:34295800-34297800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:34295800-34297800	Enhancers	HMEC	breast
18	chr11:34295800-34298400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:34296000-34297400	Enhancers	Fetal Heart	heart
20	chr11:34296200-34297400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:34296200-34297400	Enhancers	Psoas Muscle	Psoas
22	chr11:34296400-34297600	Enhancers	Right Ventricle	heart
23	chr11:34296400-34298200	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:34296600-34297600	Enhancers	Esophagus	oesophagus
25	chr11:34296600-34297800	Enhancers	Right Atrium	heart
26	chr11:34296800-34297400	Enhancers	NH-A	brain
27	chr11:34296800-34299800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:34296800-34301600	Weak transcription	HSMMtube	muscle
29	chr11:34296800-34303000	Weak transcription	Gastric	stomach
30	chr11:34296800-34306200	Weak transcription	Fetal Brain Female	brain
31	chr11:34297000-34297400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:34297000-34297400	Enhancers	NHLF	lung
33	chr11:34297000-34297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:34297000-34297800	Enhancers	Hela-S3	cervix
35	chr11:34297000-34298400	Enhancers	A549	lung
36	chr11:34297000-34300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:34297000-34300000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:34297000-34300000	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:34297000-34300000	Weak transcription	Left Ventricle	heart
40	chr11:34297000-34300200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:34297000-34300200	Weak transcription	Fetal Thymus	thymus
42	chr11:34297000-34305000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:34297000-34305200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:34297000-34321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:34297200-34297600	Enhancers	NHEK	skin
46	chr11:34297200-34297800	Enhancers	GM12878-XiMat	blood
47	chr11:34297200-34299800	Weak transcription	Liver	Liver
48	chr11:34297200-34300000	Weak transcription	Adipose Nuclei	Adipose
49	chr11:34297200-34300200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:34297200-34301800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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