Variant report

Variant	rs11608863
Chromosome Location	chr12:48102509-48102510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48098316..48105030-chr12:48164986..48170762,10	K562	blood:
2	chr12:48101224..48103938-chr12:48201884..48203806,2	MCF-7	breast:
3	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
4	chr12:48100260..48102598-chr12:48215002..48217225,2	K562	blood:
5	chr12:48101516..48103781-chr12:48167915..48169892,2	K562	blood:
6	chr12:48100387..48103087-chr12:48291910..48293474,2	K562	blood:

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11608637	1.00[AFR][1000 genomes]

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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48100000-48102600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:48100000-48109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:48100000-48111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:48100400-48105400	Weak transcription	Esophagus	oesophagus
5	chr12:48100600-48103600	Weak transcription	Placenta	Placenta
6	chr12:48100600-48106200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:48100600-48106800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:48100600-48108800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:48100600-48109000	Weak transcription	Aorta	Aorta
10	chr12:48100600-48109000	Weak transcription	Lung	lung
11	chr12:48100800-48103200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:48100800-48104800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:48100800-48106800	Weak transcription	Fetal Stomach	stomach
14	chr12:48100800-48108800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:48100800-48108800	Weak transcription	Right Ventricle	heart
16	chr12:48100800-48109400	Weak transcription	HSMM	muscle
17	chr12:48101000-48103000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:48101000-48103400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:48101000-48103600	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:48101000-48104000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:48101000-48105200	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:48101000-48108800	Weak transcription	Brain Angular Gyrus	brain
23	chr12:48101000-48108800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:48101000-48108800	Weak transcription	Brain Substantia Nigra	brain
25	chr12:48101000-48108800	Weak transcription	Fetal Lung	lung
26	chr12:48101000-48108800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:48101000-48109000	Weak transcription	Fetal Heart	heart
28	chr12:48101000-48109200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:48101000-48109200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:48101200-48103200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:48101200-48105400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:48101200-48109200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:48101400-48103000	Weak transcription	Adipose Nuclei	Adipose
34	chr12:48101400-48104600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:48101400-48104800	Enhancers	Primary B cells from cord blood	blood
36	chr12:48101400-48108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:48101400-48108800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:48101400-48108800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:48101400-48109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:48101400-48111000	Weak transcription	Colonic Mucosa	Colon
41	chr12:48101400-48111200	Weak transcription	Small Intestine	intestine
42	chr12:48101600-48103000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:48101800-48111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:48102000-48103200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:48102000-48103400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:48102000-48104800	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:48102000-48109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:48102200-48102800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:48102200-48102800	Weak transcription	Pancreas	Pancrea
50	chr12:48102200-48103000	Enhancers	Primary T cells from cord blood	blood

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