Variant report

Variant	rs9992300
Chromosome Location	chr4:57111659-57111660
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	NR3C1	chr4:57111621-57111987	A549	lung:	n/a	chr4:57111857-57111874 chr4:57111776-57111802 chr4:57111780-57111798
2	FOXA1	chr4:57111653-57112261	HepG2	liver:	n/a	n/a
3	FOSL2	chr4:57111628-57112011	HepG2	liver:	n/a	chr4:57111750-57111764

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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11732236	0.84[MEX][hapmap]
rs17752390	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs572969	0.83[MEX][hapmap]
rs58800795	0.85[EUR][1000 genomes]
rs60359083	0.86[EUR][1000 genomes]
rs60480035	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7690043	0.86[EUR][1000 genomes]
rs7690071	0.86[EUR][1000 genomes]
rs777464	0.84[MEX][hapmap]

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:28 , 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	chr4:57103400-57112200	Weak transcription	Pancreas	Pancrea
5	chr4:57106800-57112000	Weak transcription	Brain Germinal Matrix	brain
6	chr4:57107400-57148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:57107800-57124400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:57108000-57114400	Enhancers	HepG2	liver
9	chr4:57108000-57114600	Enhancers	Fetal Intestine Large	intestine
10	chr4:57108000-57114600	Enhancers	Fetal Intestine Small	intestine
11	chr4:57108800-57113000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:57109400-57112000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:57110400-57112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:57110600-57112400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:57110800-57112200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:57110800-57114000	Enhancers	Stomach Mucosa	stomach
17	chr4:57111000-57112000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:57111000-57113000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:57111000-57113400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:57111000-57113400	Weak transcription	Small Intestine	intestine
21	chr4:57111200-57112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57111200-57113400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:57111400-57113400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:57111600-57111800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:57111600-57112200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:57111600-57112400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:57111600-57112800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:57111600-57113000	Enhancers	H1 Cell Line	embryonic stem cell

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