Variant report

Variant	rs4834763
Chromosome Location	chr4:120138402-120138403
allele	C/T
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:5)
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	chr4:120138208-120138593	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119603174..119605394-chr4:120137644..120139212,2	K562	blood:
2	chr4:120136077..120139007-chr4:120191556..120193518,2	K562	blood:
3	chr4:120135683..120139128-chr4:120180501..120183210,3	K562	blood:
4	chr4:120132080..120136189-chr4:120136407..120141066,11	MCF-7	breast:
5	chr4:120136237..120140737-chr4:120147652..120152174,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178636	TF binding region
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1033086	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932775	0.88[AMR][1000 genomes]
rs1397606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050457	0.87[AMR][1000 genomes]
rs2389744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263382	1.00[ASN][1000 genomes]
rs4270572	1.00[ASN][1000 genomes]
rs4301093	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352459	1.00[ASN][1000 genomes]
rs4441740	1.00[ASN][1000 genomes]
rs4452412	0.96[EUR][1000 genomes]
rs4458436	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611910	1.00[ASN][1000 genomes]
rs4834758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834759	1.00[EUR][1000 genomes]
rs4834760	1.00[EUR][1000 genomes]
rs6534129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814008	1.00[ASN][1000 genomes]
rs6818150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823192	0.87[AMR][1000 genomes]
rs6833531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853132	0.87[AMR][1000 genomes]
rs6853317	0.96[EUR][1000 genomes]
rs6853794	1.00[ASN][1000 genomes]
rs7658445	0.87[AMR][1000 genomes]
rs7668809	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668987	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684673	0.87[AMR][1000 genomes]
rs7690674	0.87[AMR][1000 genomes]
rs7692328	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9991222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134600-120144600	Weak transcription	Spleen	Spleen
2	chr4:120134800-120138800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:120134800-120142000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:120134800-120143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:120134800-120147000	Weak transcription	Fetal Brain Male	brain
6	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:120135000-120142600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:120135000-120142800	Weak transcription	Lung	lung
9	chr4:120135000-120154800	Weak transcription	Primary B cells from cord blood	blood
10	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:120135200-120138600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:120135200-120139000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:120135200-120139000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:120135200-120139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:120135200-120140400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:120135200-120140400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:120135200-120142000	Weak transcription	Esophagus	oesophagus
19	chr4:120135200-120142000	Weak transcription	Ovary	ovary
20	chr4:120135200-120143200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:120135200-120143600	Weak transcription	Thymus	Thymus
22	chr4:120135200-120155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:120135200-120155000	Weak transcription	Small Intestine	intestine
24	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:120135400-120138800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:120135400-120138800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:120135400-120138800	Weak transcription	Placenta	Placenta
30	chr4:120135400-120142400	Weak transcription	Fetal Intestine Small	intestine
31	chr4:120135400-120159000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:120135600-120138800	Weak transcription	Fetal Intestine Large	intestine
34	chr4:120135600-120141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:120135600-120142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:120135600-120142800	Weak transcription	Fetal Stomach	stomach
37	chr4:120135600-120155000	Weak transcription	K562	blood
38	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
39	chr4:120135800-120139000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:120135800-120140000	Weak transcription	Fetal Lung	lung
41	chr4:120136000-120138800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:120136000-120145600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:120136200-120138800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:120136200-120138800	Weak transcription	Liver	Liver
45	chr4:120136200-120138800	Weak transcription	HSMMtube	muscle
46	chr4:120136200-120139000	Weak transcription	Primary T cells from cord blood	blood
47	chr4:120136200-120139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:120136200-120139000	Weak transcription	Fetal Kidney	kidney
49	chr4:120136200-120143000	Weak transcription	NH-A	brain
50	chr4:120136200-120147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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