Variant report

Variant	rs62328370
Chromosome Location	chr4:120159522-120159523
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:120159249-120159649	GM12878	blood:	n/a	n/a
2	YY1	chr4:120159258-120159562	GM12891	blood:	n/a	n/a
3	IRF4	chr4:120159052-120159853	GM12878	blood:	n/a	n/a
4	NFIC	chr4:120159007-120159886	GM12878	blood:	n/a	n/a
5	IRF4	chr4:120159075-120159763	GM12878	blood:	n/a	n/a
6	TCF3	chr4:120159269-120159670	GM12878	blood:	n/a	n/a
7	MTA3	chr4:120159133-120159866	GM12878	blood:	n/a	n/a
8	ATF2	chr4:120158972-120159927	GM12878	blood:	n/a	n/a
9	NFATC1	chr4:120159121-120159754	GM12878	blood:	n/a	n/a
10	NFATC1	chr4:120159067-120159838	GM12878	blood:	n/a	n/a
11	BCLAF1	chr4:120159158-120159822	GM12878	blood:	n/a	n/a
12	POU2F2	chr4:120159267-120159533	GM12878	blood:	n/a	n/a
13	PAX5	chr4:120159251-120159864	GM12878	blood:	n/a	n/a
14	EBF1	chr4:120159288-120159671	GM12878	blood:	n/a	n/a
15	NFIC	chr4:120158923-120159896	GM12878	blood:	n/a	n/a
16	MEF2A	chr4:120159122-120159694	GM12878	blood:	n/a	n/a
17	FOXM1	chr4:120159024-120159799	GM12878	blood:	n/a	n/a
18	YY1	chr4:120159236-120159622	GM12892	blood:	n/a	n/a
19	ATF2	chr4:120159072-120159821	GM12878	blood:	n/a	n/a
20	SP1	chr4:120159248-120159655	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr4:120159198-120159610	GM12878	blood:	n/a	n/a
22	YY1	chr4:120159230-120159595	GM12892	blood:	n/a	n/a
23	PAX5	chr4:120159218-120159848	GM12891	blood:	n/a	n/a
24	PAX5	chr4:120159282-120159819	GM12892	blood:	n/a	n/a
25	MEF2A	chr4:120159102-120159735	GM12878	blood:	n/a	n/a
26	STAT3	chr4:120159360-120159559	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT5A	chr4:120159128-120159726	GM12878	blood:	n/a	n/a
28	BCLAF1	chr4:120159068-120159759	GM12878	blood:	n/a	n/a
29	EP300	chr4:120159220-120159752	GM12878	blood:	n/a	n/a
30	SRF	chr4:120159264-120159552	GM12878	blood:	n/a	n/a
31	EP300	chr4:120159230-120159644	GM12878	blood:	n/a	n/a
32	CREB1	chr4:120159186-120159793	GM12878	blood:	n/a	n/a
33	JUND	chr4:120159230-120159761	GM12878	blood:	n/a	n/a
34	YY1	chr4:120159260-120159618	GM12878	blood:	n/a	n/a
35	BHLHE40	chr4:120159260-120159796	GM12878	blood:	n/a	n/a
36	RUNX3	chr4:120158987-120159854	GM12878	blood:	n/a	n/a
37	PML	chr4:120158842-120159784	GM12878	blood:	n/a	n/a
38	BATF	chr4:120159096-120159862	GM12878	blood:	n/a	n/a
39	PAX5	chr4:120159331-120159841	GM12878	blood:	n/a	n/a
40	CEBPB	chr4:120158914-120159893	GM12878	blood:	n/a	n/a
41	SPI1	chr4:120159198-120159529	GM12891	blood:	n/a	n/a
42	RUNX3	chr4:120159087-120159713	GM12878	blood:	n/a	n/a
43	ELF1	chr4:120159214-120159601	GM12878	blood:	n/a	n/a
44	POU2F2	chr4:120159122-120159671	GM12891	blood:	n/a	n/a
45	RAD21	chr4:120159243-120159561	GM12878	blood:	n/a	n/a
46	ZNF143	chr4:120159331-120159548	GM12878	blood:	n/a	n/a
47	BCL11A	chr4:120159220-120159604	GM12878	blood:	n/a	n/a
48	TCF3	chr4:120159302-120159610	GM12878	blood:	n/a	n/a
49	STAT3	chr4:120159220-120159688	GM12878	blood:	n/a	n/a
50	EBF1	chr4:120159246-120159816	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120132950..120135145-chr4:120157017..120160702,4	MCF-7	breast:
2	chr4:120158506..120160403-chr4:120160643..120163574,2	MCF-7	breast:

No data

Variant related genes	Relation type
USP53	TF binding region
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	esv2763386	chr4:120143861-120186968	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv966480	chr4:120144708-120160847	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv461632	chr4:120158734-120180790	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv461633	chr4:120158734-120180790	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv595332	chr4:120158734-120180790	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:120139400-120165800	Weak transcription	Fetal Kidney	kidney
11	chr4:120140600-120167400	Weak transcription	Colonic Mucosa	Colon
12	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
13	chr4:120143000-120167200	Weak transcription	Placenta	Placenta
14	chr4:120143000-120176200	Weak transcription	Esophagus	oesophagus
15	chr4:120143800-120167000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:120146000-120178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:120152200-120167200	Weak transcription	Pancreas	Pancrea
19	chr4:120153800-120160600	Weak transcription	HSMM	muscle
20	chr4:120154800-120161800	Weak transcription	A549	lung
21	chr4:120155000-120166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:120155200-120161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:120155200-120163400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:120155200-120167000	Weak transcription	NH-A	brain
25	chr4:120155400-120160600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:120155400-120160600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:120155400-120165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:120155400-120165800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:120155400-120166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:120155400-120167200	Weak transcription	Aorta	Aorta
31	chr4:120155400-120167200	Weak transcription	Fetal Thymus	thymus
32	chr4:120155400-120167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:120155400-120169800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:120155400-120169800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:120155400-120169800	Weak transcription	Ovary	ovary
36	chr4:120155400-120176200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:120155400-120176400	Weak transcription	Right Ventricle	heart
38	chr4:120155600-120159800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:120155600-120165800	Weak transcription	HSMMtube	muscle
40	chr4:120155600-120169800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:120155600-120173800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:120155600-120176400	Weak transcription	Brain Substantia Nigra	brain
43	chr4:120155600-120186000	Weak transcription	Fetal Heart	heart
44	chr4:120155800-120163800	Strong transcription	NHDF-Ad	bronchial
45	chr4:120156000-120159800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:120156200-120162400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:120156200-120165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:120156200-120167200	Weak transcription	Psoas Muscle	Psoas
49	chr4:120156400-120159800	Strong transcription	Adipose Nuclei	Adipose
50	chr4:120156600-120159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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