Variant report

Variant	rs2185379
Chromosome Location	chr6:106536253-106536254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106533395..106535560-chr6:106536184..106537993,2	K562	blood:

Variant related genes	Relation type
ENSG00000057657	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12663005	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17558797	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890556	0.96[EUR][1000 genomes]
rs9384600	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9386511	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106532200-106536400	Flanking Active TSS	Dnd41	blood
2	chr6:106532600-106537000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:106533400-106537200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr6:106533400-106537400	Active TSS	Rectal Smooth Muscle	rectum
5	chr6:106533400-106537800	Active TSS	Esophagus	oesophagus
6	chr6:106533600-106536400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr6:106533600-106536400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr6:106533600-106539400	Active TSS	Duodenum Mucosa	Duodenum
9	chr6:106533600-106541200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:106533800-106536400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:106533800-106536800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:106533800-106537800	Active TSS	Lung	lung
13	chr6:106534200-106539200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr6:106534400-106536600	Bivalent/Poised TSS	Thymus	Thymus
15	chr6:106534400-106537000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:106534400-106538400	Active TSS	Right Atrium	heart
17	chr6:106534600-106536600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:106534600-106536600	Flanking Active TSS	NH-A	brain
19	chr6:106534600-106537000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:106534600-106537200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:106534600-106537400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:106534800-106536600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:106534800-106536800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr6:106534800-106538400	Active TSS	Colonic Mucosa	Colon
25	chr6:106535000-106536400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:106535000-106536600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr6:106535000-106537000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:106535000-106538400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:106535200-106536400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
30	chr6:106535200-106537000	Active TSS	Small Intestine	intestine
31	chr6:106535200-106538600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:106535400-106536400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:106535400-106536400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:106535400-106536400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:106535400-106536400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:106535400-106536400	Flanking Active TSS	NHLF	lung
37	chr6:106535400-106536600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr6:106535400-106537000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr6:106535400-106537000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr6:106535400-106537400	Flanking Active TSS	Osteobl	bone
41	chr6:106535600-106536400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:106535600-106536400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr6:106535600-106536400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr6:106535600-106536400	Active TSS	Gastric	stomach
45	chr6:106535600-106536400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr6:106535600-106536600	Active TSS	Brain Angular Gyrus	brain
47	chr6:106535600-106536600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr6:106535600-106539200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr6:106535800-106536400	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr6:106535800-106536400	Bivalent Enhancer	Primary T cells from cord blood	blood

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