Variant report

Variant	rs1295388
Chromosome Location	chr6:119670457-119670458
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86421834..86422681-chr6:119670403..119671308,2	HCT-116	colon:
2	chr6:119467858..119470789-chr6:119668770..119672252,3	K562	blood:
3	chr6:119646382..119648660-chr6:119668105..119670795,4	K562	blood:
4	chr6:119669555..119672250-chr9:133998872..134001645,2	MCF-7	breast:
5	chr6:119668823..119671516-chr8:145162966..145165568,2	MCF-7	breast:
6	chr6:119646815..119653075-chr6:119668578..119671016,6	K562	blood:
7	chr6:119668779..119670859-chr6:120052634..120055044,2	MCF-7	breast:
8	chr6:119398174..119401168-chr6:119668507..119671059,2	K562	blood:
9	chr6:119460572..119463135-chr6:119668179..119670876,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179698	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000126883	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000200732	Chromatin interaction
ENSG00000179526	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1022869	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1022870	0.93[ASN][1000 genomes]
rs1028327	0.86[ASN][1000 genomes]
rs1028328	0.86[ASN][1000 genomes]
rs10456921	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10457352	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10457353	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10457355	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457356	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10485001	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10872173	0.86[ASN][1000 genomes]
rs10872177	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11153796	0.93[ASN][1000 genomes]
rs11153797	0.93[ASN][1000 genomes]
rs11153800	0.93[ASN][1000 genomes]
rs11153803	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153805	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153808	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153810	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153811	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153812	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11751945	0.93[ASN][1000 genomes]
rs11755967	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759899	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11961647	0.93[ASN][1000 genomes]
rs11962938	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12192420	0.93[ASN][1000 genomes]
rs12198423	0.93[ASN][1000 genomes]
rs12198667	0.93[ASN][1000 genomes]
rs12199883	0.81[ASN][1000 genomes]
rs12200554	0.86[ASN][1000 genomes]
rs12205260	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12205826	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12206472	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207595	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12210002	0.80[EUR][1000 genomes]
rs12524617	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527248	0.81[ASN][1000 genomes]
rs1295383	0.81[ASN][1000 genomes]
rs1295384	0.81[ASN][1000 genomes]
rs1797067	0.81[ASN][1000 genomes]
rs2036257	0.81[ASN][1000 genomes]
rs2092218	0.86[ASN][1000 genomes]
rs2142886	0.80[AMR][1000 genomes]
rs2144236	0.81[ASN][1000 genomes]
rs35305935	0.81[ASN][1000 genomes]
rs4607463	0.86[ASN][1000 genomes]
rs56827721	0.92[ASN][1000 genomes]
rs61094987	0.92[ASN][1000 genomes]
rs6569056	0.86[ASN][1000 genomes]
rs6569057	0.86[ASN][1000 genomes]
rs6569065	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569066	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569072	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6569073	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569076	0.81[ASN][1000 genomes]
rs6903249	0.93[ASN][1000 genomes]
rs6909928	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6913626	0.93[ASN][1000 genomes]
rs6913654	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6915957	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6918913	0.93[ASN][1000 genomes]
rs6920832	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932241	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932292	0.86[ASN][1000 genomes]
rs6935126	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936790	0.81[ASN][1000 genomes]
rs73529045	1.00[ASN][1000 genomes]
rs73529086	1.00[ASN][1000 genomes]
rs73535209	0.84[ASN][1000 genomes]
rs73535254	0.84[ASN][1000 genomes]
rs7740993	0.86[ASN][1000 genomes]
rs7743824	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7745295	0.81[ASN][1000 genomes]
rs7745633	0.81[ASN][1000 genomes]
rs7750041	0.93[ASN][1000 genomes]
rs7753492	0.93[ASN][1000 genomes]
rs7754482	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760582	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7763569	0.86[ASN][1000 genomes]
rs7767198	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7770777	0.93[ASN][1000 genomes]
rs926859	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9374795	0.81[ASN][1000 genomes]
rs9489697	0.81[ASN][1000 genomes]

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	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
3	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
4	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3392935	chr6:119668878-119671426	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119664800-119672400	Active TSS	Brain Anterior Caudate	brain
2	chr6:119665200-119672800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:119666200-119672600	Active TSS	NHDF-Ad	bronchial
4	chr6:119666600-119672400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:119667000-119672400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:119667000-119672400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:119667000-119672800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:119667200-119672200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:119667200-119672400	Active TSS	Right Atrium	heart
10	chr6:119667400-119670600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr6:119667600-119672000	Active TSS	Lung	lung
12	chr6:119667600-119672000	Active TSS	Pancreas	Pancrea
13	chr6:119667600-119672200	Active TSS	Brain Angular Gyrus	brain
14	chr6:119667600-119672200	Active TSS	Left Ventricle	heart
15	chr6:119667600-119672200	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:119667800-119672200	Active TSS	Right Ventricle	heart
17	chr6:119668000-119671600	Active TSS	Liver	Liver
18	chr6:119668000-119672000	Active TSS	Gastric	stomach
19	chr6:119668000-119672200	Active TSS	Psoas Muscle	Psoas
20	chr6:119668200-119672000	Active TSS	Aorta	Aorta
21	chr6:119668200-119672000	Active TSS	Fetal Intestine Large	intestine
22	chr6:119668200-119672200	Active TSS	Fetal Intestine Small	intestine
23	chr6:119668200-119672600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:119668200-119672600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:119668400-119671800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr6:119668400-119672000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:119668400-119672200	Active TSS	Colon Smooth Muscle	Colon
28	chr6:119668400-119672200	Active TSS	Stomach Mucosa	stomach
29	chr6:119668600-119672200	Active TSS	Duodenum Mucosa	Duodenum
30	chr6:119668800-119670800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:119668800-119670800	Flanking Bivalent TSS/Enh	Dnd41	blood
32	chr6:119668800-119672000	Active TSS	Ovary	ovary
33	chr6:119668800-119672000	Active TSS	Small Intestine	intestine
34	chr6:119668800-119672200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:119669000-119672000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:119669000-119672000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:119669000-119672000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr6:119669000-119672200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:119669000-119672400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:119669000-119672400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:119669200-119670800	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr6:119669200-119671000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:119669200-119671800	Active TSS	Thymus	Thymus
44	chr6:119669200-119671800	Active TSS	Spleen	Spleen
45	chr6:119669200-119672000	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr6:119669200-119672200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr6:119669200-119672200	Active TSS	Brain Substantia Nigra	brain
48	chr6:119669400-119670800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:119669400-119671200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:119669400-119671600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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