Variant report

Variant	rs12526609
Chromosome Location	chr6:45644311-45644312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45643267..45645325-chr6:45679837..45682530,2	MCF-7	breast:
2	chr6:45387873..45391350-chr6:45642901..45646664,5	MCF-7	breast:
3	chr6:45386304..45389959-chr6:45643687..45645408,3	MCF-7	breast:
4	chr6:45574169..45577727-chr6:45643786..45647502,3	MCF-7	breast:
5	chr6:45643355..45645914-chr6:45665891..45668541,2	MCF-7	breast:
6	chr6:45643425..45645102-chr6:45658763..45660463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12527144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873624	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16873689	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
2	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
3	chr6:45635000-45644800	Weak transcription	NHLF	lung
4	chr6:45635600-45644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:45642200-45646400	Enhancers	Fetal Thymus	thymus
6	chr6:45643000-45644800	Enhancers	Primary T cells from cord blood	blood
7	chr6:45643000-45644800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:45643000-45645000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:45643000-45645000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:45643000-45645000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:45643000-45646000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:45643200-45644800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:45643200-45644800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:45643200-45644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:45643200-45644800	Enhancers	Dnd41	blood
16	chr6:45643200-45645000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:45643200-45645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:45643200-45645200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:45643200-45646000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:45643400-45644800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:45643400-45644800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:45643400-45645200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:45643400-45647600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:45643400-45647800	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:45643600-45644800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:45643600-45644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:45643600-45644800	Weak transcription	NHEK	skin
28	chr6:45643600-45645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:45643600-45645000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:45643600-45645000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:45643600-45645000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:45643600-45645000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:45643800-45644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:45643800-45644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:45643800-45644800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:45643800-45645000	Weak transcription	Esophagus	oesophagus
37	chr6:45643800-45645000	Weak transcription	Gastric	stomach
38	chr6:45643800-45645000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:45644000-45644400	Enhancers	Brain Substantia Nigra	brain
40	chr6:45644000-45644800	Enhancers	Primary B cells from cord blood	blood
41	chr6:45644000-45645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:45644000-45646400	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:45644000-45646400	Enhancers	NHDF-Ad	bronchial
44	chr6:45644200-45645000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr6:45644200-45645000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:45644200-45646200	Enhancers	HSMM	muscle
47	chr6:45644200-45646400	Enhancers	Fetal Brain Male	brain
48	chr6:45644200-45646400	Enhancers	Fetal Muscle Leg	muscle

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