Variant report

Variant	rs195046
Chromosome Location	chr6:119632634-119632635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119630356..119635588-chr6:119947996..119951157,4	K562	blood:
2	chr6:119629640..119632678-chr6:119644965..119647810,3	K562	blood:
3	chr6:119255724..119257359-chr6:119631437..119633020,2	K562	blood:
4	chr6:119631576..119635032-chr6:119667472..119671213,7	K562	blood:
5	chr6:119616681..119618587-chr6:119631653..119633211,2	K562	blood:
6	chr6:119578497..119580438-chr6:119630996..119632847,2	K562	blood:
7	chr6:119628759..119633610-chr6:119634034..119636665,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction
ENSG00000111877	Chromatin interaction
ENSG00000253194	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1076656	0.87[ASN][1000 genomes]
rs1104741	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11153798	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11153802	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11962211	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12207164	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12211868	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295386	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1408491	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1408492	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1408493	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1797064	0.85[JPT][hapmap]
rs195051	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195062	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195063	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs195071	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs195079	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195081	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs195083	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064160	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2142890	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267672	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2299879	0.89[CHB][hapmap]
rs2299881	0.97[ASN][1000 genomes]
rs2357162	0.84[EUR][1000 genomes]
rs3798609	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3822997	0.84[EUR][1000 genomes]
rs4945633	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946406	0.84[YRI][hapmap]
rs6569061	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs6569063	0.98[ASN][1000 genomes]
rs6569074	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6569075	0.82[ASN][1000 genomes]
rs6922115	0.81[EUR][1000 genomes]
rs6922274	0.81[EUR][1000 genomes]
rs6933914	0.81[EUR][1000 genomes]
rs7357047	0.84[EUR][1000 genomes]
rs7357048	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9320684	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9385068	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9401135	0.82[EUR][1000 genomes]
rs9489625	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9489627	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9489628	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9489633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9489654	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998194	0.82[CEU][hapmap]

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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv1794477	chr6:119609322-119633534	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
3	chr6:119617200-119637400	Weak transcription	Aorta	Aorta
4	chr6:119618200-119633800	Weak transcription	Colonic Mucosa	Colon
5	chr6:119619400-119632800	Weak transcription	Ovary	ovary
6	chr6:119621600-119633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:119621600-119634000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:119623400-119633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:119625200-119632800	Weak transcription	Right Atrium	heart
10	chr6:119625200-119634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:119625200-119634200	Weak transcription	Brain Angular Gyrus	brain
12	chr6:119625200-119634400	Weak transcription	Fetal Stomach	stomach
13	chr6:119625200-119634400	Weak transcription	Thymus	Thymus
14	chr6:119625200-119635600	Weak transcription	Psoas Muscle	Psoas
15	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:119627200-119636800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:119627800-119635600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:119627800-119667000	Weak transcription	Gastric	stomach
19	chr6:119628000-119633600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:119628000-119633800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:119628000-119633800	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:119628000-119633800	Weak transcription	Lung	lung
23	chr6:119628000-119634000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:119628000-119634400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:119628000-119635800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:119628200-119633200	Weak transcription	Fetal Thymus	thymus
27	chr6:119628200-119633800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:119628200-119633800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:119629000-119633000	Enhancers	NHDF-Ad	bronchial
30	chr6:119629200-119637000	Enhancers	Adipose Nuclei	Adipose
31	chr6:119629400-119633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:119629600-119632800	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:119630000-119633000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:119630200-119634800	Enhancers	Small Intestine	intestine
35	chr6:119630400-119634000	Weak transcription	Fetal Lung	lung
36	chr6:119630400-119634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:119630400-119635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:119630400-119635200	Weak transcription	Osteobl	bone
39	chr6:119630400-119637800	Genic enhancers	HepG2	liver
40	chr6:119630600-119633600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:119630600-119633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:119630600-119634000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:119630800-119633600	Weak transcription	Fetal Intestine Small	intestine
44	chr6:119630800-119633800	Weak transcription	Dnd41	blood
45	chr6:119630800-119635400	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:119630800-119636600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:119631000-119633600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:119631000-119633600	Weak transcription	Fetal Intestine Large	intestine
49	chr6:119631200-119632800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:119631200-119633600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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