Variant report

Variant	rs2291632
Chromosome Location	chr5:43123255-43123256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43121173..43123733-chr5:43225214..43227134,2	MCF-7	breast:
3	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
4	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
5	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
6	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
7	chr5:43120765..43125898-chr5:43482451..43485837,5	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249888	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1001717	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12652363	0.95[ASN][1000 genomes]
rs12653864	0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12654798	0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12657208	0.85[ASN][1000 genomes]
rs12659157	0.90[GIH][hapmap];1.00[MEX][hapmap]
rs12659721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13153077	0.90[ASN][1000 genomes]
rs13153860	0.90[ASN][1000 genomes]
rs13154654	0.94[ASN][1000 genomes]
rs13159390	0.93[ASN][1000 genomes]
rs13161127	0.93[ASN][1000 genomes]
rs13163892	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13164183	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13164889	0.92[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs13166780	0.93[ASN][1000 genomes]
rs13171253	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13172378	0.93[ASN][1000 genomes]
rs13174772	0.94[ASN][1000 genomes]
rs13178478	0.90[ASN][1000 genomes]
rs13181290	0.93[ASN][1000 genomes]
rs13182652	0.93[ASN][1000 genomes]
rs13186549	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs13189565	0.90[ASN][1000 genomes]
rs13189574	0.93[ASN][1000 genomes]
rs13190109	0.90[ASN][1000 genomes]
rs16873177	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17242731	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17242995	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17243023	0.83[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17243086	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17243165	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17243515	0.92[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17302596	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17302931	0.83[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs186322	0.90[JPT][hapmap]
rs28548198	0.93[ASN][1000 genomes]
rs34071473	0.93[ASN][1000 genomes]
rs34205479	0.93[ASN][1000 genomes]
rs34242142	0.90[ASN][1000 genomes]
rs34258100	0.90[ASN][1000 genomes]
rs34302880	0.87[ASN][1000 genomes]
rs34333393	0.93[ASN][1000 genomes]
rs34448278	0.90[ASN][1000 genomes]
rs34552214	0.93[ASN][1000 genomes]
rs34973629	0.93[ASN][1000 genomes]
rs34992478	0.93[ASN][1000 genomes]
rs35018789	0.93[ASN][1000 genomes]
rs35106307	0.90[ASN][1000 genomes]
rs35199583	0.93[ASN][1000 genomes]
rs35230086	0.93[ASN][1000 genomes]
rs35285338	0.90[ASN][1000 genomes]
rs35397154	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs35593061	0.82[ASN][1000 genomes]
rs35645372	0.90[ASN][1000 genomes]
rs35665483	0.93[ASN][1000 genomes]
rs35673052	0.90[ASN][1000 genomes]
rs35754881	0.93[ASN][1000 genomes]
rs35839054	0.88[ASN][1000 genomes]
rs35855029	0.90[ASN][1000 genomes]
rs35859204	0.89[ASN][1000 genomes]
rs35949944	0.93[ASN][1000 genomes]
rs35998500	0.93[ASN][1000 genomes]
rs36122541	0.93[ASN][1000 genomes]
rs36125638	0.90[ASN][1000 genomes]
rs3752831	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3752832	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3797306	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3797307	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3797308	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3797309	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56889091	0.90[ASN][1000 genomes]
rs56923657	0.93[ASN][1000 genomes]
rs58028166	0.90[ASN][1000 genomes]
rs585302	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs6451670	0.83[ASN][1000 genomes]
rs67190423	0.93[ASN][1000 genomes]
rs67596313	0.93[ASN][1000 genomes]
rs71590635	0.93[ASN][1000 genomes]
rs71627578	0.95[ASN][1000 genomes]
rs71627579	0.93[ASN][1000 genomes]
rs71627580	0.93[ASN][1000 genomes]
rs71627583	0.93[ASN][1000 genomes]
rs71627584	0.93[ASN][1000 genomes]
rs71627585	0.90[ASN][1000 genomes]
rs71627586	0.90[ASN][1000 genomes]
rs71627587	0.88[ASN][1000 genomes]
rs72748883	0.95[ASN][1000 genomes]
rs72748886	0.91[ASN][1000 genomes]
rs72748897	0.93[ASN][1000 genomes]
rs72750704	0.92[ASN][1000 genomes]
rs72750764	0.93[ASN][1000 genomes]
rs72750780	0.93[ASN][1000 genomes]
rs73092493	0.95[ASN][1000 genomes]
rs782988	0.85[ASN][1000 genomes]

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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43120600-43123400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:43120600-43123400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:43120600-43123600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:43120800-43123800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:43120800-43124000	Active TSS	Psoas Muscle	Psoas
6	chr5:43121000-43123400	Active TSS	GM12878-XiMat	blood
7	chr5:43121800-43123400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr5:43122000-43123400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr5:43122000-43123800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:43122200-43123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:43122200-43123800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr5:43122200-43123800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:43122400-43123400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:43122400-43123400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:43122400-43123400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr5:43122400-43123400	Flanking Active TSS	Fetal Lung	lung
17	chr5:43122400-43123400	Flanking Active TSS	HMEC	breast
18	chr5:43122400-43123400	Flanking Active TSS	HUVEC	blood vessel
19	chr5:43122400-43123400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr5:43122400-43123600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:43122400-43123600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr5:43122400-43123600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:43122400-43123600	Flanking Active TSS	NHEK	skin
24	chr5:43122400-43124000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr5:43122400-43124200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:43122400-43124200	Transcr. at gene 5' and 3'	K562	blood
27	chr5:43122400-43125000	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr5:43122600-43123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:43122600-43123400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:43122600-43123400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:43122600-43123400	Flanking Active TSS	Fetal Brain Male	brain
32	chr5:43122600-43123600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:43122600-43123600	Weak transcription	Placenta	Placenta
34	chr5:43122600-43123800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:43122600-43123800	Enhancers	Liver	Liver
36	chr5:43122600-43124000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:43122600-43124000	Enhancers	Small Intestine	intestine
38	chr5:43122600-43124400	Flanking Active TSS	Fetal Brain Female	brain
39	chr5:43122600-43124400	Enhancers	Stomach Mucosa	stomach
40	chr5:43122600-43126400	Weak transcription	Lung	lung
41	chr5:43122600-43126400	Weak transcription	Spleen	Spleen
42	chr5:43122600-43129200	Weak transcription	Gastric	stomach
43	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
44	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
45	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:43122800-43123400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr5:43122800-43123400	Enhancers	Primary B cells from cord blood	blood
49	chr5:43122800-43123400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:43122800-43123400	Flanking Active TSS	NH-A	brain

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