Variant report

Variant	rs35159664
Chromosome Location	chr19:55790477-55790478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:55790442-55791992	H1-neurons	neurons:	n/a	chr19:55791697-55791710 chr19:55791714-55791734 chr19:55791448-55791466
2	HCFC1	chr19:55790314-55793324	Hela-S3	cervix:	n/a	n/a
3	ZNF384	chr19:55790147-55790499	K562	blood:	n/a	n/a
4	MXI1	chr19:55790109-55791968	SK-N-SH	brain:	n/a	chr19:55791307-55791322 chr19:55791335-55791350 chr19:55791209-55791224

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55790334..55792779-chr19:55835222..55838188,2	K562	blood:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55789007..55794976-chr19:55917716..55921043,9	K562	blood:
4	chr19:55788649..55794261-chr19:55847636..55852828,10	K562	blood:
5	chr19:55790067..55793851-chr19:55895113..55900809,14	K562	blood:
6	chr19:55789004..55791837-chr19:56110524..56113034,2	K562	blood:
7	chr19:55685149..55688070-chr19:55790255..55792658,4	K562	blood:
8	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
9	chr19:55789731..55792765-chr19:55910242..55912226,3	K562	blood:
10	chr19:55726686..55729337-chr19:55790310..55792413,2	MCF-7	breast:
11	chr19:55788570..55793941-chr19:55917523..55920740,5	MCF-7	breast:
12	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
13	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
14	chr19:55789812..55792675-chr19:55848548..55852419,5	K562	blood:
15	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
16	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
17	chr19:55789007..55793013-chr19:55917737..55920988,5	K562	blood:
18	chr19:55790204..55793295-chr19:55914436..55917425,4	K562	blood:
19	chr19:55769028..55772088-chr19:55788931..55793273,6	MCF-7	breast:
20	chr19:55790075..55793363-chr19:55895323..55900809,10	K562	blood:
21	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
22	chr19:55727873..55730829-chr19:55787708..55791463,3	K562	blood:
23	chr19:55790045..55791863-chr19:55848758..55853021,3	MCF-7	breast:
24	chr19:55767517..55772398-chr19:55789828..55793738,15	K562	blood:

No data

Variant related genes	Relation type
BRSK1	TF binding region
ENSG00000267531	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000180061	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10411896	0.95[ASN][1000 genomes]
rs11665832	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667472	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669313	0.94[EUR][1000 genomes]
rs11672373	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11672710	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672774	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848610	0.94[EUR][1000 genomes]
rs62126346	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126347	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126348	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126352	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509938	0.96[EUR][1000 genomes]
rs7258327	0.90[EUR][1000 genomes]
rs8105032	0.95[ASN][1000 genomes]

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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
2	chr19:55780800-55790600	Weak transcription	Small Intestine	intestine
3	chr19:55786200-55791000	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:55788000-55790800	Weak transcription	Right Atrium	heart
5	chr19:55788600-55791000	Enhancers	Primary B cells from cord blood	blood
6	chr19:55788800-55790600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:55789000-55790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:55789000-55790600	Weak transcription	Fetal Lung	lung
9	chr19:55789000-55790600	Weak transcription	Placenta	Placenta
10	chr19:55789000-55790600	Weak transcription	Stomach Mucosa	stomach
11	chr19:55789000-55790600	Weak transcription	HSMMtube	muscle
12	chr19:55789200-55790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:55789200-55790600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:55789200-55790600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:55789200-55790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:55789200-55790600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr19:55789200-55790600	Weak transcription	Aorta	Aorta
18	chr19:55789200-55790600	Weak transcription	Esophagus	oesophagus
19	chr19:55789200-55790600	Weak transcription	Ovary	ovary
20	chr19:55789200-55790600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:55789200-55790600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:55789200-55790600	Weak transcription	Spleen	Spleen
23	chr19:55789200-55790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:55789400-55790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:55789400-55790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:55789400-55790600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:55789400-55790600	Weak transcription	Adipose Nuclei	Adipose
28	chr19:55789400-55790600	Weak transcription	Left Ventricle	heart
29	chr19:55789400-55790600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr19:55789600-55790600	Weak transcription	Lung	lung
31	chr19:55789800-55790600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:55789800-55790600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:55789800-55790600	Active TSS	Brain Anterior Caudate	brain
34	chr19:55789800-55790600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:55790000-55790600	Enhancers	Pancreas	Pancrea
36	chr19:55790000-55790600	Enhancers	Right Ventricle	heart
37	chr19:55790200-55790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:55790200-55790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr19:55790200-55790600	Active TSS	Fetal Brain Female	brain
40	chr19:55790200-55790800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:55790200-55790800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:55790200-55790800	Enhancers	Gastric	stomach
43	chr19:55790200-55792000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:55790200-55792000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:55790200-55792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:55790400-55790600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:55790400-55790600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:55790400-55790600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:55790400-55790600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:55790400-55790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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