Variant report

Variant	rs9320684
Chromosome Location	chr6:119610488-119610489
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119610170..119612156-chr6:119617318..119619032,2	K562	blood:
2	chr6:119606752..119608778-chr6:119610247..119612125,3	K562	blood:
3	chr6:119609733..119612979-chr6:119627928..119630973,3	K562	blood:
4	chr6:118972591..118974261-chr6:119609330..119611051,2	K562	blood:
5	chr6:119601823..119603610-chr6:119610338..119612030,2	K562	blood:
6	chr6:119608607..119610723-chr6:119621907..119624132,2	K562	blood:
7	chr6:119609972..119611654-chr6:119613652..119615753,2	K562	blood:
8	chr6:119609031..119610643-chr6:119617216..119619068,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1005506	0.81[JPT][hapmap]
rs1076656	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1104741	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153798	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11153802	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11962211	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12207164	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12211868	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1295386	0.83[ASN][1000 genomes]
rs1408491	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1408492	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1408493	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs195046	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]
rs195051	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195053	0.81[JPT][hapmap]
rs195054	0.81[JPT][hapmap]
rs195057	0.81[JPT][hapmap]
rs195060	0.81[JPT][hapmap]
rs195062	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195070	0.81[JPT][hapmap]
rs195071	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195077	0.81[JPT][hapmap]
rs195078	0.87[ASN][1000 genomes]
rs195079	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195083	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195088	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195091	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]
rs2064160	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2093906	0.82[AMR][1000 genomes]
rs2142885	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2142890	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267672	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295203	0.81[JPT][hapmap]
rs2299881	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2299884	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2357162	0.85[EUR][1000 genomes]
rs3778110	0.81[JPT][hapmap]
rs3798609	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3822997	0.85[EUR][1000 genomes]
rs4945633	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946406	0.84[YRI][hapmap]
rs6569060	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs6569061	0.92[CEU][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs6569062	0.81[JPT][hapmap]
rs6569063	0.98[ASN][1000 genomes]
rs6569074	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6569075	0.81[ASN][1000 genomes]
rs6922115	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6922274	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6933914	0.82[EUR][1000 genomes]
rs7357047	0.85[EUR][1000 genomes]
rs7357048	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7775421	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9374786	0.81[JPT][hapmap]
rs9374789	0.81[JPT][hapmap]
rs9385068	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9398506	0.81[JPT][hapmap]
rs9401135	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9489625	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9489627	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489628	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489633	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9489654	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980818	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs998194	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]

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	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	esv1803720	chr6:119609322-119628198	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
3	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:119592600-119627200	Weak transcription	Dnd41	blood
12	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
14	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:119597200-119627400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:119597600-119610800	Weak transcription	Fetal Kidney	kidney
17	chr6:119599200-119619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:119599800-119611400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
20	chr6:119600000-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:119600400-119624000	Weak transcription	Fetal Stomach	stomach
22	chr6:119601400-119611000	Weak transcription	Small Intestine	intestine
23	chr6:119602400-119629200	Weak transcription	NH-A	brain
24	chr6:119602600-119627400	Weak transcription	Gastric	stomach
25	chr6:119602600-119629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
27	chr6:119602800-119610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:119602800-119617400	Weak transcription	Left Ventricle	heart
29	chr6:119603400-119616800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:119603400-119626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:119604400-119615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:119604400-119626600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:119604800-119610600	Weak transcription	Fetal Lung	lung
34	chr6:119604800-119616800	Weak transcription	Aorta	Aorta
35	chr6:119605000-119613000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:119605200-119617400	Weak transcription	Pancreas	Pancrea
37	chr6:119605400-119610800	Weak transcription	Adipose Nuclei	Adipose
38	chr6:119605600-119615200	Strong transcription	K562	blood
39	chr6:119605600-119617400	Strong transcription	HepG2	liver
40	chr6:119605600-119622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:119605600-119626600	Weak transcription	GM12878-XiMat	blood
42	chr6:119606200-119626800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:119607200-119616200	Weak transcription	Fetal Intestine Large	intestine
44	chr6:119607200-119626800	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:119607400-119610600	Weak transcription	NHDF-Ad	bronchial
46	chr6:119607400-119624000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:119607400-119626800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:119607600-119628600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:119608200-119611200	Strong transcription	Primary B cells from cord blood	blood
50	chr6:119608400-119610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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