Variant report

Variant	rs12665068
Chromosome Location	chr6:11735529-11735530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:

Variant related genes	Relation type
ENSG00000095951	Chromatin interaction
ENSG00000229896	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs105924	0.98[ASN][1000 genomes]
rs210896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs210897	0.98[ASN][1000 genomes]
rs210903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2235404	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2235421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294429	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711401	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713873	0.87[JPT][hapmap]
rs7747449	0.89[ASN][1000 genomes]
rs9296142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9469927	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3396416	chr6:11734466-11738764	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11723200-11738400	Weak transcription	HMEC	breast
3	chr6:11723600-11744200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:11726400-11744600	Weak transcription	Right Atrium	heart
6	chr6:11730200-11736200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:11732000-11735800	Weak transcription	Spleen	Spleen
8	chr6:11732000-11737400	Weak transcription	Ovary	ovary
9	chr6:11732400-11736200	Strong transcription	NHEK	skin
10	chr6:11732400-11744800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:11732600-11740000	Weak transcription	Psoas Muscle	Psoas
13	chr6:11732800-11738800	Weak transcription	Small Intestine	intestine
14	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:11733000-11736000	Enhancers	GM12878-XiMat	blood
16	chr6:11733000-11736800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:11733000-11737000	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:11733000-11741400	Weak transcription	HSMM	muscle
19	chr6:11733200-11735800	Weak transcription	Gastric	stomach
20	chr6:11733400-11738400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:11733600-11735600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr6:11733600-11736200	Weak transcription	Fetal Brain Male	brain
23	chr6:11733600-11738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:11733600-11738400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:11734000-11736000	Weak transcription	Esophagus	oesophagus
26	chr6:11734000-11738800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:11734400-11735600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:11734600-11736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:11734600-11745000	Weak transcription	HSMMtube	muscle
30	chr6:11734800-11736000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:11735000-11735600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:11735200-11735600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:11735200-11735600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:11735200-11736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:11735200-11736200	Enhancers	Fetal Thymus	thymus
36	chr6:11735200-11736600	Enhancers	Stomach Mucosa	stomach
37	chr6:11735200-11738400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:11735200-11738800	Enhancers	Pancreas	Pancrea
39	chr6:11735200-11744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:11735400-11737400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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