Variant report

Variant	rs9844183
Chromosome Location	chr3:52315192-52315193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:52315120-52315195	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52272849..52274871-chr3:52314813..52317682,2	MCF-7	breast:
2	chr3:52314469..52316754-chr3:52320584..52322893,2	K562	blood:
3	chr3:52311051..52315983-chr3:52317623..52323290,10	MCF-7	breast:
4	chr3:52278055..52281861-chr3:52310505..52315451,9	K562	blood:
5	chr3:52270811..52274971-chr3:52310538..52315239,11	K562	blood:
6	chr3:52314559..52317342-chr3:52444350..52446225,2	K562	blood:

No data

Variant related genes	Relation type
WDR82	TF binding region
ENSG00000247596	Chromatin interaction
ENSG00000163930	Chromatin interaction
ENSG00000243224	Chromatin interaction
ENSG00000164088	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000010318	Chromatin interaction
ENSG00000168237	Chromatin interaction
ENSG00000239732	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1011062	1.00[JPT][hapmap]
rs1011063	1.00[JPT][hapmap]
rs1011064	1.00[JPT][hapmap]
rs1077142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10865972	1.00[JPT][hapmap]
rs11705963	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11706001	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11706108	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11707864	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11707931	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11709658	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11711934	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11714402	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11716017	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11718125	0.93[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11721286	1.00[JPT][hapmap]
rs123598	1.00[JPT][hapmap]
rs123602	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs123603	1.00[JPT][hapmap]
rs13059674	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13060192	1.00[JPT][hapmap]
rs13071708	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13075370	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs13076508	1.00[JPT][hapmap]
rs13076890	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13091360	1.00[JPT][hapmap]
rs13091545	0.93[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1541495	1.00[JPT][hapmap]
rs164637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17052051	0.82[YRI][hapmap]
rs17052058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052061	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17052068	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1767	0.83[YRI][hapmap]
rs2016575	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2109558	1.00[JPT][hapmap]
rs2109559	1.00[JPT][hapmap]
rs2159607	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs2215466	1.00[JPT][hapmap]
rs2335640	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28481563	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2878549	1.00[JPT][hapmap]
rs34238085	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34261027	0.80[EUR][1000 genomes]
rs34355561	0.90[EUR][1000 genomes]
rs34523877	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34551211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34762015	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34908451	0.91[EUR][1000 genomes]
rs35133416	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs352142	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs352143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs352144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs352173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs353548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35860312	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3733063	0.82[YRI][hapmap]
rs3752819	0.90[EUR][1000 genomes]
rs3774409	1.00[JPT][hapmap]
rs3774410	1.00[JPT][hapmap]
rs3796343	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390802	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs409803	1.00[JPT][hapmap]
rs419050	1.00[JPT][hapmap]
rs419604	1.00[JPT][hapmap]
rs419752	1.00[JPT][hapmap]
rs4312651	1.00[JPT][hapmap]
rs4687614	1.00[JPT][hapmap]
rs4687617	1.00[JPT][hapmap]
rs4687618	1.00[JPT][hapmap]
rs498778	1.00[JPT][hapmap]
rs498946	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55965068	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55997317	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56357549	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57441156	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59612757	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61150019	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs613519	1.00[JPT][hapmap]
rs634382	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs6445386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6445486	1.00[JPT][hapmap]
rs66462821	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67248391	0.91[EUR][1000 genomes]
rs676034	1.00[JPT][hapmap]
rs6763882	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6771558	1.00[JPT][hapmap]
rs67834575	0.91[EUR][1000 genomes]
rs6784615	1.00[JPT][hapmap]
rs6793317	0.82[YRI][hapmap]
rs6794675	0.88[EUR][1000 genomes]
rs6796333	0.93[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6800707	0.81[EUR][1000 genomes]
rs6809248	0.81[YRI][hapmap]
rs7620015	1.00[JPT][hapmap]
rs7643570	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs82825	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs929528	1.00[JPT][hapmap]
rs9855470	1.00[JPT][hapmap]
rs9861879	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9867823	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
3	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
5	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
6	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
7	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52313200-52321000	Weak transcription	Gastric	stomach
2	chr3:52313400-52317200	Weak transcription	Ovary	ovary
3	chr3:52313400-52320400	Weak transcription	Lung	lung
4	chr3:52313400-52321000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:52313600-52315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:52313600-52318200	Enhancers	Fetal Intestine Small	intestine
7	chr3:52313600-52320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:52313600-52320800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr3:52313600-52320800	Weak transcription	Colonic Mucosa	Colon
10	chr3:52313600-52321000	Enhancers	Fetal Intestine Large	intestine
11	chr3:52313600-52321000	Weak transcription	Left Ventricle	heart
12	chr3:52313600-52321000	Weak transcription	Psoas Muscle	Psoas
13	chr3:52313600-52321000	Weak transcription	Right Atrium	heart
14	chr3:52313800-52315600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:52313800-52315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:52313800-52316000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:52313800-52316000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:52313800-52317000	Enhancers	Fetal Thymus	thymus
19	chr3:52313800-52318600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:52313800-52320800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:52313800-52320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:52314000-52315800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:52314000-52315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:52314000-52316000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:52314000-52317200	Weak transcription	Small Intestine	intestine
26	chr3:52314000-52320800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:52314000-52320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:52314000-52321000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:52314200-52315400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:52314200-52315800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:52314200-52315800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:52314200-52315800	Enhancers	Primary T cells from cord blood	blood
33	chr3:52314200-52315800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:52314200-52315800	Weak transcription	Liver	Liver
35	chr3:52314200-52315800	Weak transcription	GM12878-XiMat	blood
36	chr3:52314200-52316000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:52314200-52317600	Enhancers	Adipose Nuclei	Adipose
38	chr3:52314200-52317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:52314200-52320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:52314200-52320800	Weak transcription	Fetal Brain Female	brain
41	chr3:52314200-52320800	Weak transcription	NHLF	lung
42	chr3:52314400-52315400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:52314400-52315600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:52314400-52315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:52314400-52315600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:52314400-52315800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr3:52314400-52315800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:52314400-52316000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:52314400-52316000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:52314400-52316000	Weak transcription	NH-A	brain

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