Variant report

Variant	rs820080
Chromosome Location	chr6:35031986-35031987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35025816..35027340-chr6:35029435..35032265,2	K562	blood:
2	chr6:35027752..35029526-chr6:35031427..35033441,2	MCF-7	breast:
3	chr6:35011986..35013703-chr6:35031904..35034159,2	K562	blood:
4	chr6:34204164..34206868-chr6:35031694..35033222,2	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1093985	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13191889	0.87[ASN][1000 genomes]
rs1568705	0.94[ASN][1000 genomes]
rs2049316	0.80[ASN][1000 genomes]
rs2140420	0.81[EUR][1000 genomes]
rs2689097	0.81[EUR][1000 genomes]
rs2762342	0.83[EUR][1000 genomes]
rs2820224	0.88[ASN][1000 genomes]
rs2820229	0.80[EUR][1000 genomes]
rs2820230	0.94[ASN][1000 genomes]
rs3800424	0.81[ASN][1000 genomes]
rs3800426	0.94[ASN][1000 genomes]
rs3823437	0.81[ASN][1000 genomes]
rs6937805	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs707967	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72537461	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820068	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820073	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820074	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820075	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs820076	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820078	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs820079	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs820081	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820084	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820086	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs820087	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820088	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820089	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820091	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820092	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820093	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs820094	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs820096	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs820097	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs820098	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs865353	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469933	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv869750	chr6:35031548-35085585	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34994600-35036000	Weak transcription	K562	blood
2	chr6:35015800-35044200	Weak transcription	HMEC	breast
3	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
4	chr6:35017600-35036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
6	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
7	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:35018800-35038200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
11	chr6:35020200-35037600	Strong transcription	Fetal Intestine Large	intestine
12	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:35020600-35034800	Strong transcription	Primary T cells from cord blood	blood
14	chr6:35021000-35037000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:35021000-35037600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:35021200-35034800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr6:35021400-35036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:35021400-35037400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:35021600-35036800	Strong transcription	Colonic Mucosa	Colon
20	chr6:35021800-35055400	Weak transcription	HSMM	muscle
21	chr6:35022000-35034800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:35022000-35036600	Strong transcription	Placenta	Placenta
23	chr6:35022400-35036200	Strong transcription	Pancreas	Pancrea
24	chr6:35022600-35037200	Strong transcription	Gastric	stomach
25	chr6:35023000-35033200	Weak transcription	Aorta	Aorta
26	chr6:35024000-35039200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:35024600-35034800	Strong transcription	Ovary	ovary
28	chr6:35024600-35035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:35024800-35062000	Weak transcription	A549	lung
30	chr6:35025200-35037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:35025600-35056000	Strong transcription	Liver	Liver
32	chr6:35025800-35035400	Strong transcription	HSMMtube	muscle
33	chr6:35026000-35032200	Genic enhancers	Adipose Nuclei	Adipose
34	chr6:35026400-35034600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:35026400-35036000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:35026400-35036400	Strong transcription	Fetal Stomach	stomach
37	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:35027400-35032400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:35027600-35036400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:35027800-35032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:35028200-35032200	Strong transcription	Fetal Brain Female	brain
42	chr6:35028400-35033000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:35028400-35048800	Weak transcription	Psoas Muscle	Psoas
44	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:35028800-35036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:35028800-35045400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:35029000-35033400	Weak transcription	Brain Angular Gyrus	brain
48	chr6:35029000-35036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:35029000-35046200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:35029000-35050800	Weak transcription	NHLF	lung

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