Variant report

Variant	rs17778994
Chromosome Location	chr20:1193685-1193686
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1088811..1089830-chr20:1193079..1194181,4	K562	blood:
2	chr20:1192869..1195344-chr20:1438195..1439984,2	K562	blood:
3	chr2:210538146..210538666-chr20:1193654..1194280,2	K562	blood:
4	chr20:796342..797345-chr20:1193228..1194213,7	K562	blood:
5	chr20:1185215..1189363-chr20:1191139..1194748,4	K562	blood:
6	chr20:1158236..1159047-chr20:1193190..1194193,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17717241	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs17779421	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs4813073	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs60276694	0.87[EUR][1000 genomes]
rs7265362	1.00[CHD][hapmap]
rs7273889	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1191000-1193800	Weak transcription	Stomach Mucosa	stomach
2	chr20:1192400-1193800	Enhancers	K562	blood
3	chr20:1192600-1194000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr20:1192800-1193800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr20:1192800-1193800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr20:1193000-1193800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:1193200-1194000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:1193200-1194000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:1193200-1194000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr20:1193400-1193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:1193400-1193800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:1193400-1193800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:1193400-1193800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:1193400-1193800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr20:1193400-1193800	Active TSS	Aorta	Aorta
16	chr20:1193400-1193800	Enhancers	Brain Angular Gyrus	brain
17	chr20:1193400-1193800	Enhancers	Brain Substantia Nigra	brain
18	chr20:1193400-1193800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
19	chr20:1193400-1193800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr20:1193400-1193800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr20:1193400-1193800	Bivalent/Poised TSS	A549	lung
22	chr20:1193400-1193800	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr20:1193400-1194000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr20:1193400-1194000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr20:1193400-1194000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr20:1193400-1194000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr20:1193400-1194000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr20:1193400-1194000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr20:1193400-1194000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr20:1193400-1194000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:1193400-1194000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:1193400-1194000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr20:1193400-1194000	Enhancers	Brain Hippocampus Middle	brain
34	chr20:1193400-1194000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr20:1193400-1194000	Enhancers	Fetal Intestine Small	intestine
36	chr20:1193400-1194000	Active TSS	Hela-S3	cervix
37	chr20:1193400-1194200	Enhancers	Primary T cells from cord blood	blood
38	chr20:1193600-1193800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr20:1193600-1193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr20:1193600-1193800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr20:1193600-1193800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:1193600-1193800	Enhancers	Adipose Nuclei	Adipose
43	chr20:1193600-1193800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr20:1193600-1193800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr20:1193600-1193800	Enhancers	Colon Smooth Muscle	Colon
46	chr20:1193600-1193800	Enhancers	Rectal Smooth Muscle	rectum
47	chr20:1193600-1193800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr20:1193600-1194000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr20:1193600-1194000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr20:1193600-1194000	Enhancers	Primary B cells from peripheral blood	blood

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