Variant report

Variant	rs4806656
Chromosome Location	chr19:55788495-55788496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55787812-55788513	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55785041..55787227-chr19:55787483..55789658,2	K562	blood:
2	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
3	chr19:55784752..55786541-chr19:55786945..55789658,2	K562	blood:
4	chr19:55786801..55789660-chr19:55815741..55818613,2	K562	blood:
5	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
6	chr19:55769197..55771377-chr19:55786930..55788564,2	MCF-7	breast:
7	chr19:55727873..55730829-chr19:55787708..55791463,3	K562	blood:
8	chr19:55781030..55783901-chr19:55788247..55790308,2	K562	blood:

No data

Variant related genes	Relation type
BRSK1	TF binding region
ENSG00000105063	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10403164	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403571	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412187	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10414721	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10421676	0.81[CEU][hapmap]
rs11880758	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11880781	0.81[AMR][1000 genomes]
rs12983085	0.96[MEX][hapmap]
rs3786544	0.81[CEU][hapmap]
rs4072920	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4473307	0.91[MEX][hapmap]
rs4806657	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126354	0.82[AMR][1000 genomes]
rs67351527	0.81[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55790400	Weak transcription	HSMM	muscle
2	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
3	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
4	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
5	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:55772400-55789800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
8	chr19:55774400-55790400	Weak transcription	Psoas Muscle	Psoas
9	chr19:55778200-55790200	Weak transcription	Fetal Brain Male	brain
10	chr19:55778400-55790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:55778400-55790400	Weak transcription	Fetal Kidney	kidney
12	chr19:55778600-55789200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:55778800-55789800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:55778800-55790200	Strong transcription	Fetal Intestine Small	intestine
15	chr19:55779000-55790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:55779200-55789400	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:55779200-55789600	Strong transcription	Fetal Brain Female	brain
18	chr19:55779200-55789800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:55779800-55788800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:55780000-55790400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:55780000-55790400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:55780200-55789200	Strong transcription	Brain Germinal Matrix	brain
23	chr19:55780200-55789800	Strong transcription	Fetal Intestine Large	intestine
24	chr19:55780200-55789800	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:55780400-55789400	Strong transcription	Primary T cells from cord blood	blood
26	chr19:55780600-55789400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:55780600-55790200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:55780800-55789800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:55780800-55790600	Weak transcription	Small Intestine	intestine
30	chr19:55781200-55789400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:55781200-55789800	Strong transcription	Dnd41	blood
32	chr19:55781200-55790200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:55781400-55789200	Strong transcription	Liver	Liver
34	chr19:55781600-55789600	Strong transcription	Lung	lung
35	chr19:55781800-55789400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:55782000-55789400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:55782400-55788600	Weak transcription	K562	blood
38	chr19:55782600-55789200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:55783000-55789200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:55783400-55789000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:55783400-55789400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:55783600-55789000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:55783600-55789000	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:55783600-55789400	Strong transcription	Left Ventricle	heart
45	chr19:55784600-55789400	Strong transcription	Adipose Nuclei	Adipose
46	chr19:55784800-55789200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr19:55785000-55788600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:55785000-55790400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:55785600-55790200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:55785600-55790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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