Variant report

Variant	rs6033370
Chromosome Location	chr20:1280925-1280926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
2	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
3	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
4	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
5	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:

Variant related genes	Relation type
ENSG00000088833	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11905792	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6078473	0.90[ASN][1000 genomes]
rs6078505	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7354385	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7466	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs912105	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1067360	chr20:1245753-1283508	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1067393	chr20:1254805-1302796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv912588	chr20:1269588-1300456	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv912589	chr20:1272686-1298397	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv912590	chr20:1278770-1298397	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3437211	chr20:1280452-1285150	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248200-1281200	Weak transcription	NHEK	skin
2	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
4	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
5	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
6	chr20:1267200-1281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:1267400-1281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:1267800-1281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
11	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
13	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
14	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:1272400-1281200	Weak transcription	Osteobl	bone
17	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
18	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr20:1272800-1281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:1272800-1283400	Weak transcription	HSMMtube	muscle
21	chr20:1273000-1281200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr20:1274600-1282200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
25	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
27	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
29	chr20:1276200-1281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr20:1277200-1281000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:1278000-1281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:1278800-1281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:1278800-1281200	Strong transcription	NHLF	lung
36	chr20:1278800-1283600	Weak transcription	Fetal Brain Female	brain
37	chr20:1279000-1281200	Weak transcription	Primary T cells from cord blood	blood
38	chr20:1279400-1281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:1279400-1282000	Strong transcription	Brain Anterior Caudate	brain
40	chr20:1279600-1281200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr20:1279800-1281000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr20:1279800-1282000	Strong transcription	Fetal Stomach	stomach
43	chr20:1280000-1281400	Strong transcription	Brain Cingulate Gyrus	brain
44	chr20:1280000-1281600	Genic enhancers	Brain Inferior Temporal Lobe	brain
45	chr20:1280000-1282000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr20:1280000-1282200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr20:1280000-1282200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:1280000-1282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr20:1280000-1282200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr20:1280000-1282200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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