Variant report

Variant	rs12209631
Chromosome Location	chr6:11242203-11242204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11241591..11242336-chr6:11496079..11496891,3	K562	blood:
2	chr6:11235150..11238104-chr6:11239000..11242242,3	K562	blood:
3	chr6:11240257..11242702-chr6:11246560..11249644,4	MCF-7	breast:
4	chr6:11231795..11233739-chr6:11239855..11242610,2	MCF-7	breast:
5	chr6:11234125..11238203-chr6:11239752..11242885,4	MCF-7	breast:
6	chr6:11240100..11242223-chr6:11245633..11248253,2	K562	blood:
7	chr6:11241627..11242532-chr6:11575629..11576424,3	K562	blood:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10601	1.00[CHB][hapmap]
rs1803710	1.00[CHB][hapmap]
rs2327338	1.00[CHB][hapmap]
rs34369764	1.00[ASN][1000 genomes]
rs4607428	1.00[CHB][hapmap]
rs4711193	1.00[CHB][hapmap]
rs4711194	1.00[CHB][hapmap]
rs4713228	1.00[CHB][hapmap]
rs6456968	1.00[CHB][hapmap]
rs6906952	1.00[CHB][hapmap]
rs6923725	1.00[CHB][hapmap]
rs7746976	1.00[CHB][hapmap]
rs7750787	1.00[CHB][hapmap]
rs9468537	1.00[CHB][hapmap]
rs960944	1.00[CHB][hapmap]
rs960945	1.00[CHB][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11234400-11249600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:11234600-11248400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:11234800-11251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:11235000-11257200	Weak transcription	Dnd41	blood
5	chr6:11236800-11246600	Weak transcription	Left Ventricle	heart
6	chr6:11237000-11242400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:11237200-11242400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:11237200-11242400	Weak transcription	NHDF-Ad	bronchial
9	chr6:11237400-11242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:11237400-11248000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:11237400-11248800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:11237400-11251600	Weak transcription	Right Atrium	heart
13	chr6:11237600-11242600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:11237600-11245000	Weak transcription	GM12878-XiMat	blood
15	chr6:11237600-11246200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:11237600-11248600	Weak transcription	Thymus	Thymus
17	chr6:11237600-11248800	Weak transcription	Spleen	Spleen
18	chr6:11237600-11249000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:11237600-11249400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:11237600-11249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:11237600-11250000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:11237800-11244000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:11237800-11248600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:11237800-11248800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:11237800-11249800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:11238000-11248800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:11238400-11249600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:11240600-11242800	Weak transcription	Fetal Thymus	thymus
29	chr6:11240600-11246000	Strong transcription	Primary B cells from cord blood	blood
30	chr6:11241000-11243200	Enhancers	HepG2	liver
31	chr6:11241200-11242400	Enhancers	Fetal Intestine Small	intestine
32	chr6:11241400-11243800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:11241400-11244200	Enhancers	Stomach Mucosa	stomach
34	chr6:11241400-11244600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:11241600-11242400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:11241600-11242600	Enhancers	Pancreas	Pancrea
37	chr6:11241600-11242800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:11241600-11242800	Enhancers	Fetal Kidney	kidney
39	chr6:11241600-11242800	Enhancers	Gastric	stomach
40	chr6:11241600-11242800	Enhancers	Lung	lung
41	chr6:11241600-11243000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:11241600-11243400	Enhancers	Fetal Lung	lung
43	chr6:11241800-11242400	Enhancers	Brain Hippocampus Middle	brain
44	chr6:11241800-11242400	Enhancers	Psoas Muscle	Psoas
45	chr6:11241800-11242400	Enhancers	Right Ventricle	heart
46	chr6:11241800-11242600	Enhancers	NHLF	lung
47	chr6:11241800-11242800	Enhancers	Ovary	ovary
48	chr6:11241800-11243200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:11241800-11243800	Enhancers	Placenta	Placenta
50	chr6:11242000-11242400	Enhancers	Liver	Liver

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