Variant report

Variant	rs9472123
Chromosome Location	chr6:12595956-12595957
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	chr6:12595554..12597389-chr6:12597540..12600211,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10046276	1.00[EUR][1000 genomes]
rs11750980	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11966877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332919	1.00[EUR][1000 genomes]
rs1334306	1.00[EUR][1000 genomes]
rs1334307	1.00[EUR][1000 genomes]
rs2490446	1.00[EUR][1000 genomes]
rs2490448	1.00[EUR][1000 genomes]
rs2490450	1.00[EUR][1000 genomes]
rs2490451	1.00[EUR][1000 genomes]
rs2504866	1.00[EUR][1000 genomes]
rs2504889	1.00[EUR][1000 genomes]
rs2504893	1.00[EUR][1000 genomes]
rs2504896	1.00[EUR][1000 genomes]
rs2516229	1.00[EUR][1000 genomes]
rs2516230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516236	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2516237	1.00[EUR][1000 genomes]
rs57317303	1.00[EUR][1000 genomes]
rs59901827	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60493852	1.00[EUR][1000 genomes]
rs60501074	1.00[EUR][1000 genomes]
rs6458322	1.00[EUR][1000 genomes]
rs6900340	1.00[EUR][1000 genomes]
rs6916851	1.00[EUR][1000 genomes]
rs6928058	1.00[EUR][1000 genomes]
rs6933484	1.00[EUR][1000 genomes]
rs73356106	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73356116	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73356122	1.00[EUR][1000 genomes]
rs73356124	1.00[EUR][1000 genomes]
rs73722796	1.00[EUR][1000 genomes]
rs7738584	1.00[EUR][1000 genomes]
rs9462819	1.00[EUR][1000 genomes]
rs9462825	1.00[EUR][1000 genomes]
rs9462830	1.00[EUR][1000 genomes]
rs9462834	1.00[EUR][1000 genomes]
rs9471867	1.00[EUR][1000 genomes]
rs9471922	1.00[EUR][1000 genomes]
rs9471924	1.00[EUR][1000 genomes]
rs9472012	1.00[EUR][1000 genomes]
rs9472013	1.00[EUR][1000 genomes]
rs9472037	1.00[EUR][1000 genomes]
rs9472109	1.00[EUR][1000 genomes]
rs9472110	1.00[EUR][1000 genomes]
rs9472198	1.00[EUR][1000 genomes]
rs9717503	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12592200-12596200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:12593000-12596800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:12593400-12596000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:12593400-12597000	Enhancers	A549	lung
5	chr6:12593800-12596000	Enhancers	Fetal Kidney	kidney
6	chr6:12593800-12596200	Enhancers	Placenta	Placenta
7	chr6:12593800-12596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:12594000-12596000	Enhancers	Fetal Intestine Small	intestine
9	chr6:12594000-12596400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:12594000-12596800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:12594200-12600800	Weak transcription	Aorta	Aorta
12	chr6:12594400-12596400	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:12594600-12596200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:12594600-12596200	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:12594800-12596000	Enhancers	HMEC	breast
16	chr6:12594800-12596200	Enhancers	NHEK	skin
17	chr6:12594800-12597000	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:12595000-12596200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:12595000-12597000	Weak transcription	NHLF	lung
20	chr6:12595000-12601000	Weak transcription	Gastric	stomach
21	chr6:12595200-12596400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:12595400-12601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:12595600-12596000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:12595600-12596200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:12595600-12596200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:12595600-12596200	Enhancers	Hela-S3	cervix
27	chr6:12595600-12596200	Enhancers	HSMM	muscle
28	chr6:12595800-12600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:12595800-12601000	Weak transcription	HUVEC	blood vessel
30	chr6:12595800-12601000	Weak transcription	NHDF-Ad	bronchial
31	chr6:12595800-12608200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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