Variant report

Variant	rs12524004
Chromosome Location	chr6:144027987-144027988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144027649..144029895-chr6:144030018..144031552,2	MCF-7	breast:
2	chr6:144026361..144028111-chr6:144034125..144036106,2	MCF-7	breast:
3	chr17:56707615..56709515-chr6:144027101..144029427,2	MCF-7	breast:
4	chr6:144025959..144030073-chr6:144031546..144034604,3	K562	blood:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57435476	1.00[ASN][1000 genomes]
rs58194363	1.00[ASN][1000 genomes]
rs71564438	1.00[ASN][1000 genomes]
rs73582360	1.00[ASN][1000 genomes]
rs73582365	1.00[ASN][1000 genomes]
rs7760781	1.00[ASN][1000 genomes]
rs7760938	1.00[ASN][1000 genomes]
rs7772255	1.00[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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886737	chr6:144010570-144033992	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
2	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
3	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
4	chr6:144016200-144037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:144016200-144038000	Weak transcription	NHEK	skin
6	chr6:144016600-144034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:144016600-144034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:144017000-144038200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:144017200-144044200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:144017400-144034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:144017800-144047200	Weak transcription	K562	blood
12	chr6:144018000-144030800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:144018200-144044400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:144018600-144030600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:144019000-144028800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:144020200-144034600	Weak transcription	Spleen	Spleen
17	chr6:144020400-144030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:144021600-144030800	Weak transcription	Right Ventricle	heart
19	chr6:144021800-144030800	Weak transcription	Left Ventricle	heart
20	chr6:144021800-144034000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:144021800-144037800	Weak transcription	Right Atrium	heart
22	chr6:144022200-144034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:144022200-144034000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:144022200-144034600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:144022200-144034800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:144022200-144052600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:144022200-144063200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:144022400-144034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:144022800-144052800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:144022800-144057200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:144022800-144064200	Weak transcription	NH-A	brain
32	chr6:144023000-144030400	Weak transcription	Fetal Heart	heart
33	chr6:144023000-144034000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:144023000-144034000	Weak transcription	HSMMtube	muscle
35	chr6:144023000-144046200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:144023200-144039400	Weak transcription	HUVEC	blood vessel
37	chr6:144023200-144043800	Weak transcription	Fetal Kidney	kidney
38	chr6:144023200-144045800	Weak transcription	NHLF	lung
39	chr6:144023400-144030800	Weak transcription	Aorta	Aorta
40	chr6:144023400-144039400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:144023600-144030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:144023800-144030600	Weak transcription	Fetal Stomach	stomach
43	chr6:144023800-144048600	Weak transcription	Psoas Muscle	Psoas
44	chr6:144023800-144063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:144024600-144031000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:144024600-144034800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:144024600-144052800	Weak transcription	Osteobl	bone
48	chr6:144025400-144035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:144025400-144039400	Weak transcription	Ovary	ovary
50	chr6:144025400-144048000	Weak transcription	Placenta Amnion	Placenta Amnion

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