Variant report

Variant	rs12524982
Chromosome Location	chr6:144009161-144009162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143996710..144001910-chr6:144005817..144014875,10	MCF-7	breast:
2	chr6:144005095..144007441-chr6:144008353..144010500,3	K562	blood:
3	chr6:144002192..144005187-chr6:144008261..144010591,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11155311	0.89[JPT][hapmap]
rs11755709	0.95[ASN][1000 genomes]
rs12192270	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs12193892	0.85[EUR][1000 genomes]
rs12197980	0.86[EUR][1000 genomes]
rs12199447	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12200809	0.91[ASN][1000 genomes]
rs12525281	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12525974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527275	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530178	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13191026	0.88[JPT][hapmap]
rs13192672	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13193972	0.95[ASN][1000 genomes]
rs13194278	1.00[CHB][hapmap]
rs13199178	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13213692	0.84[ASN][1000 genomes]
rs13214196	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13219740	0.91[ASN][1000 genomes]
rs1338535	0.89[JPT][hapmap]
rs1539333	0.85[EUR][1000 genomes]
rs17291151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1884172	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051009	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2328507	0.90[CHB][hapmap]
rs34775537	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62427376	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62427377	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932482	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744358	1.00[CHB][hapmap]
rs7760627	1.00[CHB][hapmap]
rs9484792	1.00[CHB][hapmap]
rs9484795	1.00[JPT][hapmap]
rs9496738	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9496740	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144001800-144012200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:144002000-144013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:144002800-144011200	Weak transcription	Hela-S3	cervix
4	chr6:144003600-144009800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:144003600-144015000	Weak transcription	Esophagus	oesophagus
6	chr6:144003600-144015000	Weak transcription	Gastric	stomach
7	chr6:144004400-144010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:144004400-144013000	Weak transcription	Fetal Kidney	kidney
9	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:144005600-144016000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:144005800-144015200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:144006000-144009800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:144006000-144011000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:144006000-144013200	Weak transcription	Small Intestine	intestine
15	chr6:144006000-144017800	Weak transcription	Fetal Heart	heart
16	chr6:144007800-144009200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:144007800-144009200	Enhancers	HMEC	breast
18	chr6:144007800-144009200	Enhancers	NH-A	brain
19	chr6:144007800-144009400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:144007800-144009400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:144007800-144009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:144007800-144009600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:144007800-144009600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:144007800-144011800	Enhancers	Left Ventricle	heart
25	chr6:144007800-144013200	Enhancers	HepG2	liver
26	chr6:144007800-144013600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:144008000-144009200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:144008000-144009200	Weak transcription	Spleen	Spleen
29	chr6:144008000-144009400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:144008000-144009600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:144008000-144009600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:144008000-144009600	Enhancers	Rectal Smooth Muscle	rectum
33	chr6:144008000-144010200	Enhancers	Right Atrium	heart
34	chr6:144008000-144011200	Enhancers	HSMMtube	muscle
35	chr6:144008000-144014000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:144008200-144009400	Weak transcription	Lung	lung
37	chr6:144008200-144009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:144008200-144010000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:144008200-144012000	Weak transcription	Liver	Liver
40	chr6:144008400-144009200	Strong transcription	Placenta	Placenta
41	chr6:144008400-144009600	Enhancers	Colon Smooth Muscle	Colon
42	chr6:144008400-144012800	Weak transcription	Fetal Intestine Large	intestine
43	chr6:144008600-144009200	Active TSS	Ovary	ovary
44	chr6:144008600-144009400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:144008600-144009400	Enhancers	Brain Anterior Caudate	brain
46	chr6:144008600-144009600	Enhancers	Osteobl	bone
47	chr6:144008600-144010400	Enhancers	NHDF-Ad	bronchial
48	chr6:144008600-144011600	Enhancers	Psoas Muscle	Psoas
49	chr6:144008600-144015000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:144008800-144009200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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