Variant report

Variant	rs4464880
Chromosome Location	chr7:111868137-111868138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111866003..111869126-chr7:111870807..111874024,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10226284	0.81[CEU][hapmap]
rs10233673	0.86[JPT][hapmap]
rs10238141	1.00[CEU][hapmap]
rs10240912	0.86[ASN][1000 genomes]
rs10266365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10272126	1.00[CEU][hapmap]
rs10272188	1.00[CEU][hapmap]
rs10953708	1.00[CEU][hapmap]
rs10953710	1.00[CEU][hapmap]
rs10953711	1.00[CEU][hapmap]
rs11761807	1.00[CEU][hapmap]
rs11763588	1.00[CEU][hapmap]
rs11763768	0.91[CEU][hapmap]
rs11768608	1.00[CEU][hapmap]
rs11769219	1.00[CEU][hapmap]
rs11770767	0.83[CEU][hapmap]
rs11773393	1.00[CEU][hapmap]
rs11773464	0.81[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs12113634	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12154685	0.83[JPT][hapmap]
rs12537746	0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs12673259	0.88[CEU][hapmap]
rs12705816	0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs12705817	0.81[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs13230061	0.91[CEU][hapmap]
rs13236012	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs16873374	1.00[CEU][hapmap]
rs17159389	1.00[CEU][hapmap]
rs17159446	1.00[CEU][hapmap]
rs2301725	0.81[CEU][hapmap]
rs2520473	0.91[CEU][hapmap]
rs2708592	0.89[CEU][hapmap]
rs2708597	0.91[CEU][hapmap]
rs2708600	0.82[JPT][hapmap]
rs2708603	0.89[CEU][hapmap]
rs2729563	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3807884	1.00[CEU][hapmap]
rs3823515	0.85[CEU][hapmap]
rs4132325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640999	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4727766	0.87[JPT][hapmap]
rs4730519	0.86[ASN][1000 genomes]
rs4730520	0.81[CEU][hapmap]
rs4730524	0.80[JPT][hapmap]
rs6466404	0.86[AMR][1000 genomes]
rs6949164	0.85[CEU][hapmap]
rs6955231	1.00[CEU][hapmap]
rs6966390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978767	0.88[JPT][hapmap]
rs6978927	1.00[CEU][hapmap]
rs736771	0.88[JPT][hapmap]
rs757195	0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs757196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781245	0.81[CEU][hapmap]
rs7789649	0.82[JPT][hapmap]
rs7792159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795336	1.00[CEU][hapmap]
rs7811283	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960348	0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
7	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:111861800-111870200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:111863600-111874200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:111863800-111869400	Weak transcription	Psoas Muscle	Psoas
13	chr7:111863800-111879000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
15	chr7:111864000-111872600	Weak transcription	Right Ventricle	heart
16	chr7:111864000-111873200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:111864600-111869400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:111865000-111868400	Weak transcription	HepG2	liver
19	chr7:111865400-111870200	Weak transcription	Ovary	ovary
20	chr7:111865400-111873200	Weak transcription	Pancreas	Pancrea
21	chr7:111866800-111869800	Enhancers	Liver	Liver
22	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
23	chr7:111867200-111872600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:111867400-111873800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:111867600-111872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:111868000-111868200	Enhancers	Primary T helper cells PMA-I stimulated	--

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