Variant report

Variant	rs34456597
Chromosome Location	chr4:186834369-186834370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:186833843-186834382	MCF10A-Er-Src	breast:	n/a	chr4:186834157-186834164 chr4:186834156-186834165 chr4:186834157-186834165
2	FOXM1	chr4:186833826-186834412	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr4:186833761-186834494	ECC-1	luminal epithelium:	n/a	chr4:186834156-186834165 chr4:186834157-186834166
4	JUND	chr4:186833952-186834378	Hela-S3	cervix:	n/a	chr4:186834157-186834164 chr4:186834156-186834165 chr4:186834157-186834165
5	KAP1	chr4:186833974-186834644	U2OS	brain:	n/a	n/a
6	TCF7L2	chr4:186833834-186834662	PANC-1	pancreas:	n/a	chr4:186834156-186834165
7	FOS	chr4:186833887-186834390	MCF10A-Er-Src	breast:	n/a	chr4:186834157-186834164 chr4:186834156-186834165 chr4:186834157-186834165
8	STAT3	chr4:186833973-186834389	MCF10A-Er-Src	breast:	n/a	chr4:186834157-186834166 chr4:186834156-186834165
9	TCF12	chr4:186833794-186834542	ECC-1	luminal epithelium:	n/a	n/a
10	MAFK	chr4:186833909-186834458	Hela-S3	cervix:	n/a	chr4:186834065-186834076 chr4:186834067-186834084 chr4:186833958-186833972 chr4:186834064-186834075 chr4:186833955-186833975 chr4:186833957-186833973
11	TEAD4	chr4:186833835-186834371	ECC-1	luminal epithelium:	n/a	n/a
12	BRCA1	chr4:186834001-186834427	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr4:186833918-186834396	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr4:186833864-186834397	Hela-S3	cervix:	n/a	chr4:186834156-186834165
15	TCF12	chr4:186833810-186834431	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr4:186833834-186834439	Hela-S3	cervix:	n/a	chr4:186834156-186834165 chr4:186834157-186834166
17	TCF7L2	chr4:186833950-186834475	HEK293	kidney:	n/a	chr4:186834156-186834165

Variant related genes	Relation type
ENSG00000235149	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10031442	0.86[ASN][1000 genomes]
rs11726533	0.80[ASN][1000 genomes]
rs11727354	0.83[ASN][1000 genomes]
rs13110925	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13120409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134779	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13140248	0.83[ASN][1000 genomes]
rs1947455	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124092	0.85[ASN][1000 genomes]
rs2310372	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34146217	0.82[ASN][1000 genomes]
rs34371287	0.82[AMR][1000 genomes]
rs4862588	0.85[ASN][1000 genomes]
rs4862593	0.83[ASN][1000 genomes]
rs4862596	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186830800-186835000	Enhancers	Hela-S3	cervix
2	chr4:186831600-186835800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:186831600-186837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:186832000-186834400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:186832600-186834800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:186832600-186836200	Enhancers	Osteobl	bone
7	chr4:186832800-186834600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:186832800-186835600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:186832800-186836200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:186832800-186838200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:186833000-186834600	Enhancers	NHDF-Ad	bronchial
12	chr4:186833400-186835800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:186833800-186834400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:186833800-186834600	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:186833800-186834600	Enhancers	Fetal Intestine Large	intestine
16	chr4:186834000-186834400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:186834000-186834400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:186834000-186834400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:186834000-186834400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:186834000-186834600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:186834000-186834600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:186834200-186834600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:186834200-186834600	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:186834200-186837800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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