Variant report

Variant	rs1028328
Chromosome Location	chr6:119531339-119531340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119526535..119530412-chr6:119531327..119536580,5	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1022869	0.93[ASN][1000 genomes]
rs1022870	0.93[ASN][1000 genomes]
rs1028327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456921	0.93[ASN][1000 genomes]
rs10457352	0.93[ASN][1000 genomes]
rs10457353	0.93[ASN][1000 genomes]
rs10457355	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10485001	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10872173	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872177	0.87[ASN][1000 genomes]
rs11153796	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153797	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11153803	0.93[ASN][1000 genomes]
rs11153805	0.96[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11153808	0.93[ASN][1000 genomes]
rs11153810	0.93[ASN][1000 genomes]
rs11153811	0.93[ASN][1000 genomes]
rs11153812	0.93[ASN][1000 genomes]
rs11751945	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11755967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11759899	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11961647	0.93[ASN][1000 genomes]
rs11962938	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12192420	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12198423	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12198667	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12199883	0.81[ASN][1000 genomes]
rs12200554	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205260	0.93[ASN][1000 genomes]
rs12205826	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12206472	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12524617	0.86[ASN][1000 genomes]
rs1295383	0.81[ASN][1000 genomes]
rs1295384	0.81[ASN][1000 genomes]
rs1295388	0.86[ASN][1000 genomes]
rs17514051	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1797067	0.81[ASN][1000 genomes]
rs2092218	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144236	0.81[ASN][1000 genomes]
rs35433313	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4607463	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569057	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569065	0.93[ASN][1000 genomes]
rs6569066	0.93[ASN][1000 genomes]
rs6569072	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569073	0.93[ASN][1000 genomes]
rs6569076	0.81[ASN][1000 genomes]
rs6903249	0.93[ASN][1000 genomes]
rs6909928	0.93[ASN][1000 genomes]
rs6913626	0.93[ASN][1000 genomes]
rs6913654	0.93[ASN][1000 genomes]
rs6915957	0.93[ASN][1000 genomes]
rs6918913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6920832	0.86[ASN][1000 genomes]
rs6932241	0.86[ASN][1000 genomes]
rs6932292	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935126	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6936790	0.81[ASN][1000 genomes]
rs72960631	0.83[EUR][1000 genomes]
rs73529045	0.86[ASN][1000 genomes]
rs7740993	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7743299	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7743824	0.93[ASN][1000 genomes]
rs7745295	0.81[ASN][1000 genomes]
rs7745633	0.81[ASN][1000 genomes]
rs7750041	0.93[ASN][1000 genomes]
rs7750901	1.00[JPT][hapmap]
rs7750941	1.00[JPT][hapmap]
rs7753492	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7754482	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7756391	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7760582	0.93[ASN][1000 genomes]
rs7763569	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767198	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7770398	1.00[JPT][hapmap]
rs7770777	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs926859	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9481900	1.00[JPT][hapmap]
rs9489669	1.00[JPT][hapmap]
rs9489697	0.81[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	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	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	nsv1034992	chr6:119512657-119540895	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
2	chr6:119498000-119536600	Weak transcription	Fetal Heart	heart
3	chr6:119498600-119531400	Strong transcription	HepG2	liver
4	chr6:119503400-119539800	Weak transcription	Gastric	stomach
5	chr6:119516200-119532800	Strong transcription	K562	blood
6	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:119524200-119532000	Weak transcription	Fetal Brain Male	brain
8	chr6:119524800-119537000	Weak transcription	Pancreas	Pancrea
9	chr6:119524800-119539000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:119525000-119535200	Weak transcription	Ovary	ovary
12	chr6:119525200-119534000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:119525400-119533400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:119525400-119537000	Weak transcription	Right Ventricle	heart
15	chr6:119525400-119537400	Weak transcription	Brain Anterior Caudate	brain
16	chr6:119525400-119548600	Weak transcription	Aorta	Aorta
17	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
19	chr6:119525800-119533400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:119525800-119537000	Weak transcription	Left Ventricle	heart
21	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:119526000-119532400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:119526000-119538800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
27	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:119526600-119536400	Weak transcription	Fetal Intestine Large	intestine
29	chr6:119527600-119531600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:119527600-119535200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:119527800-119536400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:119528600-119531800	Enhancers	NHDF-Ad	bronchial
33	chr6:119528600-119532600	Enhancers	Fetal Lung	lung
34	chr6:119528600-119551200	Weak transcription	Primary B cells from cord blood	blood
35	chr6:119530000-119532600	Enhancers	Liver	Liver
36	chr6:119530000-119537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:119530000-119537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:119530200-119536400	Weak transcription	Fetal Stomach	stomach
39	chr6:119530400-119531400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:119530400-119533800	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:119530600-119531400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:119530600-119532000	Enhancers	GM12878-XiMat	blood
43	chr6:119530800-119531400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:119530800-119532200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:119531000-119531600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:119531000-119532200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:119531000-119536400	Weak transcription	Fetal Kidney	kidney
48	chr6:119531200-119531400	Enhancers	Right Atrium	heart
49	chr6:119531200-119531600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:119531200-119531600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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