Variant report

Variant	rs17086510
Chromosome Location	chr4:57112362-57112363
allele	G/T
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	TEAD4	chr4:57111718-57112377	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57110581..57112837-chr4:57332810..57334755,2	K562	blood:

Variant related genes	Relation type
KIAA1211	TF binding region
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12501430	0.82[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12506535	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506712	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1471472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17086524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865074	0.81[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865076	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865077	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4865078	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4865079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4865080	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4865081	0.86[JPT][hapmap];0.87[YRI][hapmap]
rs4865083	0.85[JPT][hapmap]
rs55705732	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6846642	0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7686913	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57090400-57129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:57095800-57117200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:57098800-57158400	Weak transcription	Fetal Brain Female	brain
4	chr4:57107400-57148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:57107800-57124400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:57108000-57114400	Enhancers	HepG2	liver
7	chr4:57108000-57114600	Enhancers	Fetal Intestine Large	intestine
8	chr4:57108000-57114600	Enhancers	Fetal Intestine Small	intestine
9	chr4:57108800-57113000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:57110600-57112400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:57110800-57114000	Enhancers	Stomach Mucosa	stomach
12	chr4:57111000-57113000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:57111000-57113400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:57111000-57113400	Weak transcription	Small Intestine	intestine
15	chr4:57111200-57113400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:57111400-57113400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:57111600-57112400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:57111600-57112800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:57111600-57113000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:57111800-57112600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:57111800-57112600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:57111800-57112800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:57111800-57113000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:57112000-57112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:57112000-57112600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:57112000-57113000	Enhancers	Brain Germinal Matrix	brain
27	chr4:57112000-57117400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:57112200-57112400	Enhancers	Pancreas	Pancrea
29	chr4:57112200-57112600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:57112200-57113000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:57112200-57117800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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