Variant report

Variant	rs17717619
Chromosome Location	chr20:1256910-1256911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:
2	chr20:1208115..1209766-chr20:1255671..1257472,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10485821	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323131	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992733	1.00[YRI][hapmap]
rs17717152	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs17779298	1.00[ASN][1000 genomes]
rs17779339	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs17779586	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779831	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563308	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56031085	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56046688	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211547	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6041148	1.00[YRI][hapmap]
rs6041267	0.83[YRI][hapmap]
rs7262435	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7264468	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7265644	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs7271372	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8122259	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs8124244	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs9653633	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3425741	chr20:1256152-1260550	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3342903	chr20:1256752-1260050	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3360127	chr20:1256852-1259950	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1247800-1261000	Weak transcription	Right Ventricle	heart
2	chr20:1247800-1262000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:1248000-1260800	Weak transcription	Osteobl	bone
5	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
8	chr20:1248200-1260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
12	chr20:1248200-1281200	Weak transcription	NHEK	skin
13	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr20:1248800-1258000	Weak transcription	NHLF	lung
16	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:1249800-1258000	Weak transcription	Pancreas	Pancrea
19	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
20	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:1252400-1259800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:1253800-1260400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr20:1253800-1260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr20:1253800-1261400	Weak transcription	Gastric	stomach
28	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
30	chr20:1254000-1258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:1254000-1259400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr20:1254000-1260400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr20:1254200-1258000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr20:1254200-1266800	Weak transcription	Brain Hippocampus Middle	brain
35	chr20:1254600-1258000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr20:1255400-1257000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:1255400-1257600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr20:1255400-1271600	Weak transcription	HSMMtube	muscle
39	chr20:1255800-1258000	Weak transcription	Lung	lung
40	chr20:1255800-1258200	Enhancers	K562	blood
41	chr20:1256000-1260200	Weak transcription	Primary T cells from cord blood	blood
42	chr20:1256000-1277800	Weak transcription	Fetal Brain Female	brain
43	chr20:1256200-1260800	Weak transcription	Brain Anterior Caudate	brain
44	chr20:1256400-1257000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:1256400-1258000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr20:1256400-1262000	Weak transcription	Brain Germinal Matrix	brain
47	chr20:1256400-1277400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:1256600-1257200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:1256600-1257400	Weak transcription	Brain Angular Gyrus	brain
50	chr20:1256800-1257600	Weak transcription	Brain Inferior Temporal Lobe	brain

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