Variant report

Variant	rs885002
Chromosome Location	chr11:5710183-5710184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
2	chr11:5694460..5696515-chr11:5708686..5710207,2	K562	blood:

Variant related genes	Relation type
ENSG00000225003	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10734538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10769180	0.86[CHD][hapmap]
rs12786517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16926648	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1814720	0.97[ASN][1000 genomes]
rs1814721	0.97[ASN][1000 genomes]
rs4329717	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4579958	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4910835	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4992800	0.95[ASN][1000 genomes]
rs4992803	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7124435	0.91[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7932268	0.89[AMR][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5706200-5711000	Weak transcription	Gastric	stomach
2	chr11:5706400-5710200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:5706400-5710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:5706400-5711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:5706400-5711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:5706400-5711000	Weak transcription	Lung	lung
7	chr11:5706600-5710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:5706600-5710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:5706600-5710200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:5706600-5710200	Weak transcription	Fetal Kidney	kidney
11	chr11:5706600-5710200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:5706600-5710200	Weak transcription	NHDF-Ad	bronchial
13	chr11:5706600-5710200	Weak transcription	NHLF	lung
14	chr11:5706600-5710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:5706600-5710800	Weak transcription	Fetal Brain Male	brain
16	chr11:5706600-5710800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:5706600-5711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:5706600-5711000	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:5706600-5711000	Weak transcription	Brain Substantia Nigra	brain
20	chr11:5706600-5711000	Weak transcription	Colonic Mucosa	Colon
21	chr11:5706600-5711000	Weak transcription	Fetal Heart	heart
22	chr11:5706800-5710200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:5706800-5710200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:5706800-5710200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:5706800-5710200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:5706800-5710200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:5706800-5710200	Weak transcription	Adipose Nuclei	Adipose
28	chr11:5706800-5710200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:5706800-5710200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:5706800-5710200	Weak transcription	Stomach Mucosa	stomach
31	chr11:5706800-5710200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:5706800-5710200	Weak transcription	HMEC	breast
33	chr11:5706800-5710200	Weak transcription	Osteobl	bone
34	chr11:5706800-5710400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:5706800-5710400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:5706800-5710400	Weak transcription	HUVEC	blood vessel
37	chr11:5706800-5710400	Weak transcription	NH-A	brain
38	chr11:5706800-5710400	Weak transcription	NHEK	skin
39	chr11:5706800-5710600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:5706800-5710600	Weak transcription	Liver	Liver
41	chr11:5706800-5710600	Weak transcription	Fetal Stomach	stomach
42	chr11:5706800-5710800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:5706800-5710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:5706800-5710800	Weak transcription	Fetal Thymus	thymus
45	chr11:5706800-5710800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:5706800-5710800	Weak transcription	HSMMtube	muscle
47	chr11:5706800-5710800	Weak transcription	K562	blood
48	chr11:5706800-5711000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:5706800-5711000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:5706800-5711000	Weak transcription	Fetal Intestine Large	intestine

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