Variant report

Variant	rs2080415
Chromosome Location	chr6:13674113-13674114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13672730..13674833-chr6:13709027..13713041,3	K562	blood:
2	chr6:13643256..13646012-chr6:13673649..13676067,2	K562	blood:
3	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:

Variant related genes	Relation type
ENSG00000010017	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10948811	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11755634	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11970591	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1362519	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1362520	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1573702	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2071836	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237092	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3846912	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3906327	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4715455	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59120082	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6458997	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6459003	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6459020	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6459025	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6911121	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6915775	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6940759	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72829117	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72831038	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7741241	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7744218	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13653000-13674600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:13654600-13689800	Weak transcription	Osteobl	bone
4	chr6:13655400-13677000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:13657000-13680200	Weak transcription	HSMM	muscle
6	chr6:13660800-13674800	Weak transcription	Lung	lung
7	chr6:13660800-13675400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:13660800-13688000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:13661600-13678600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:13663000-13674800	Weak transcription	Gastric	stomach
11	chr6:13663200-13674800	Weak transcription	Aorta	Aorta
12	chr6:13663200-13678200	Weak transcription	Small Intestine	intestine
13	chr6:13665600-13695200	Weak transcription	NHLF	lung
14	chr6:13665800-13674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:13667200-13678000	Weak transcription	Left Ventricle	heart
16	chr6:13667200-13678600	Weak transcription	Thymus	Thymus
17	chr6:13667600-13695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13668000-13674400	Weak transcription	Fetal Heart	heart
19	chr6:13668200-13694600	Weak transcription	NHDF-Ad	bronchial
20	chr6:13668600-13684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:13668800-13694800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:13669200-13674600	Weak transcription	Brain Anterior Caudate	brain
23	chr6:13669200-13674800	Weak transcription	Hela-S3	cervix
24	chr6:13669800-13674800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13669800-13678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:13669800-13678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:13670000-13674800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
29	chr6:13670200-13678600	Weak transcription	Pancreas	Pancrea
30	chr6:13670400-13674600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:13670400-13675000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:13670400-13678000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:13670600-13680800	Weak transcription	Fetal Thymus	thymus
34	chr6:13670800-13678000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:13671000-13677400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:13671200-13675000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:13671200-13675400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:13671600-13674800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:13671800-13675600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:13671800-13676400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:13672400-13674600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:13672400-13688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:13672600-13675600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:13672800-13674200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:13673000-13674400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:13673000-13674400	Active TSS	K562	blood
47	chr6:13673000-13677200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:13673000-13678000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:13673000-13678600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:13673000-13680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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