Variant report

Variant	rs4076581
Chromosome Location	chr3:150953678-150953679
allele	C/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	MAX	chr3:150953541-150953696	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150919390..150921829-chr3:150951786..150954379,2	K562	blood:

Variant related genes	Relation type
ENSG00000266798	TF binding region
ENSG00000174946	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1048408	0.85[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap]
rs10513392	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1125541	0.85[CEU][hapmap]
rs11714714	0.84[ASN][1000 genomes]
rs11715892	0.85[CEU][hapmap]
rs11717955	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11719936	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12330831	0.83[ASN][1000 genomes]
rs12487835	0.81[CEU][hapmap]
rs12488267	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12492699	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12494865	0.95[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs1317465	0.82[ASN][1000 genomes]
rs1352886	0.90[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs1388628	0.85[CEU][hapmap]
rs1472122	0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs1565574	0.83[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap]
rs16863323	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[EUR][1000 genomes]
rs16863334	0.90[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs16863336	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes]
rs1882014	0.85[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1882015	0.83[ASN][1000 genomes]
rs1882016	0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs1882017	0.83[ASN][1000 genomes]
rs1920395	0.80[TSI][hapmap]
rs1920396	0.83[ASN][1000 genomes]
rs2904430	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3971192	0.85[CEU][hapmap]
rs4475010	0.82[ASN][1000 genomes]
rs4679783	0.82[ASN][1000 genomes]
rs56105302	0.87[EUR][1000 genomes]
rs56367650	0.81[ASN][1000 genomes]
rs58334126	0.91[EUR][1000 genomes]
rs62283021	0.81[ASN][1000 genomes]
rs6765215	0.88[EUR][1000 genomes]
rs6768130	0.82[ASN][1000 genomes]
rs6782313	0.82[ASN][1000 genomes]
rs6793061	0.81[CEU][hapmap]
rs6807308	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7617677	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7621113	0.83[ASN][1000 genomes]
rs7621183	0.83[ASN][1000 genomes]
rs7621211	0.83[ASN][1000 genomes]
rs7623448	0.83[ASN][1000 genomes]
rs7653603	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8180086	0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs9757688	0.84[ASN][1000 genomes]
rs9810067	0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs9827619	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9828553	0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs9829753	0.83[ASN][1000 genomes]
rs9870740	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9875152	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9880339	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150946200-150979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:150946600-150957800	Weak transcription	Gastric	stomach
3	chr3:150946800-150956600	Weak transcription	Fetal Lung	lung
4	chr3:150946800-150969200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:150946800-150983600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:150949000-150958400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:150949200-150959200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:150950000-150966400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:150951000-150954400	Enhancers	Colon Smooth Muscle	Colon
10	chr3:150951200-150957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:150951800-150954200	Enhancers	Fetal Stomach	stomach
12	chr3:150952600-150953800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:150952800-150953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:150952800-150953800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:150952800-150978400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:150953000-150959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:150953200-150953800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:150953200-150957800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:150953400-150954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:150953400-150954600	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:150953400-150954800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:150953600-150959000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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