Variant report

Variant	rs62318116
Chromosome Location	chr4:107236227-107236228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:107235967-107238818	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr4:107236139-107236962	K562	blood:	n/a	n/a
3	POLR2A	chr4:107236164-107239299	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:107236078-107240087	K562	blood:	n/a	n/a
5	POLR2A	chr4:107236122-107236358	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:107236087-107238920	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:107236150-107239192	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:107236165-107239379	IMR90	lung:	n/a	n/a
9	PRDM1	chr4:107236153-107237031	Hela-S3	cervix:	n/a	chr4:107236698-107236713
10	GATA3	chr4:107236210-107236393	SH-SY5Y	brain:	n/a	n/a
11	POLR2A	chr4:107236059-107239397	HepG2	liver:	n/a	n/a
12	EP300	chr4:107236210-107236824	K562	blood:	n/a	n/a
13	POLR2A	chr4:107236198-107236287	Hela-S3	cervix:	n/a	n/a
14	MBD4	chr4:107235985-107236674	HepG2	liver:	n/a	n/a
15	HEY1	chr4:107236097-107239161	HepG2	liver:	n/a	n/a
16	RCOR1	chr4:107235987-107238488	K562	blood:	n/a	n/a
17	CTCF	chr4:107236149-107236553	K562	blood:	n/a	n/a
18	IRF1	chr4:107236103-107238312	K562	blood:	n/a	chr4:107236696-107236710 chr4:107236562-107236579
19	TBP	chr4:107236182-107238958	K562	blood:	n/a	n/a
20	MYC	chr4:107236154-107238694	K562	blood:	n/a	n/a
21	HEY1	chr4:107235975-107239381	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:107236175-107239319	GM12891	blood:	n/a	n/a
23	POLR2A	chr4:107236155-107239882	MCF10A-Er-Src	breast:	n/a	n/a
24	TBL1XR1	chr4:107236138-107236344	K562	blood:	n/a	n/a
25	POLR2A	chr4:107236212-107238727	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:
2	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
3	chr4:107217698..107220197-chr4:107235297..107237150,2	MCF-7	breast:

No data

Variant related genes	Relation type
AIMP1	TF binding region
TBCK	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000145348	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs57000190	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62318075	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62318079	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62318080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318085	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62318087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318089	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318090	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62318091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62318092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318123	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318124	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318125	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62320124	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62320128	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62320129	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321362	0.88[AFR][1000 genomes]
rs62321364	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321372	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321373	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321374	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321375	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321376	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62321377	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62321378	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62321380	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62321382	0.83[AFR][1000 genomes]
rs72660519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72660521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72660524	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72660532	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72677343	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72677353	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107178000-107236600	Weak transcription	Esophagus	oesophagus
2	chr4:107178000-107236600	Weak transcription	Pancreas	Pancrea
3	chr4:107215800-107236600	Weak transcription	Small Intestine	intestine
4	chr4:107215800-107236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:107216400-107236600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:107221200-107236600	Weak transcription	Left Ventricle	heart
7	chr4:107224000-107236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:107228000-107236600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:107230200-107236400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:107230200-107236600	Weak transcription	Gastric	stomach
11	chr4:107231800-107236600	Weak transcription	Ovary	ovary
12	chr4:107234800-107236600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:107235200-107236600	Active TSS	HepG2	liver
14	chr4:107235200-107239000	Active TSS	GM12878-XiMat	blood
15	chr4:107235200-107239000	Active TSS	K562	blood
16	chr4:107235400-107238800	Active TSS	NHLF	lung
17	chr4:107235600-107236400	Enhancers	Primary B cells from cord blood	blood
18	chr4:107235600-107238400	Active TSS	Hela-S3	cervix
19	chr4:107235600-107239400	Active TSS	A549	lung
20	chr4:107235800-107236400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:107235800-107236400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr4:107235800-107236400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:107235800-107236400	Flanking Active TSS	Dnd41	blood
24	chr4:107235800-107237000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:107235800-107238800	Active TSS	Fetal Intestine Large	intestine
26	chr4:107236000-107236400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:107236000-107236400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:107236000-107236400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:107236000-107236400	Enhancers	Colon Smooth Muscle	Colon
30	chr4:107236000-107236400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:107236000-107236400	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr4:107236000-107236400	Flanking Active TSS	HSMMtube	muscle
33	chr4:107236000-107236400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr4:107236000-107236600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:107236000-107236600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:107236000-107236600	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:107236000-107236600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:107236000-107236600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:107236000-107236600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr4:107236000-107236600	Enhancers	Fetal Heart	heart
41	chr4:107236000-107236800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:107236000-107236800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:107236000-107236800	Flanking Active TSS	Osteobl	bone
44	chr4:107236000-107237000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:107236000-107237000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:107236000-107237200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:107236000-107238200	Active TSS	Fetal Brain Female	brain
48	chr4:107236000-107238200	Active TSS	HMEC	breast
49	chr4:107236000-107238600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:107236000-107238600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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