Variant report

Variant	rs12211487
Chromosome Location	chr6:161681756-161681757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161650432..161652504-chr6:161681680..161683912,2	K562	blood:
2	chr6:161674461..161678677-chr6:161680963..161683870,6	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12207205	0.80[EUR][1000 genomes]
rs3823058	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73019329	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161638200-161693800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:161649600-161693800	Weak transcription	Right Atrium	heart
3	chr6:161653800-161693800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:161657600-161683600	Weak transcription	HSMMtube	muscle
5	chr6:161657600-161693600	Weak transcription	Left Ventricle	heart
6	chr6:161659400-161687200	Weak transcription	Esophagus	oesophagus
7	chr6:161664800-161688000	Weak transcription	Fetal Intestine Large	intestine
8	chr6:161664800-161689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:161664800-161693800	Weak transcription	HSMM	muscle
10	chr6:161665000-161693600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:161665200-161692600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:161666400-161692600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:161666800-161694200	Weak transcription	Aorta	Aorta
14	chr6:161667000-161684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161670800-161692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:161671200-161689400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:161672800-161694200	Weak transcription	Lung	lung
18	chr6:161672800-161694200	Weak transcription	Right Ventricle	heart
19	chr6:161674000-161692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:161675000-161682200	Weak transcription	NHEK	skin
21	chr6:161676000-161693800	Weak transcription	Adipose Nuclei	Adipose
22	chr6:161676200-161686800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:161676200-161694000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:161676600-161692800	Weak transcription	Fetal Lung	lung
25	chr6:161677200-161692200	Weak transcription	Spleen	Spleen
26	chr6:161677600-161690400	Weak transcription	Fetal Brain Male	brain
27	chr6:161677800-161687600	Weak transcription	Ovary	ovary
28	chr6:161678200-161693600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:161678400-161681800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:161678600-161682000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:161678600-161687000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:161678600-161694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:161678800-161693600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:161678800-161694000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:161679400-161682200	Weak transcription	A549	lung
36	chr6:161679400-161692400	Weak transcription	Fetal Heart	heart
37	chr6:161679400-161692800	Weak transcription	NHDF-Ad	bronchial
38	chr6:161679600-161686000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:161679600-161692000	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:161679800-161687000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:161679800-161687000	Weak transcription	Osteobl	bone
42	chr6:161679800-161687200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:161679800-161689400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:161679800-161693600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:161680200-161687400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:161680200-161693800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:161680200-161693800	Weak transcription	Small Intestine	intestine
48	chr6:161680400-161682200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:161680400-161682600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:161680400-161682600	Strong transcription	Brain Angular Gyrus	brain

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