Variant report

Variant	rs7237711
Chromosome Location	chr18:13020166-13020167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13018257..13020570-chr18:13021746..13023848,2	K562	blood:
2	chr18:13017521..13020570-chr18:13021746..13023868,3	K562	blood:
3	chr18:13017737..13019415-chr18:13020014..13022473,2	MCF-7	breast:
4	chr18:13008431..13010003-chr18:13017677..13020227,2	K562	blood:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11080617	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs11080618	0.83[CEU][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11661322	0.87[EUR][1000 genomes]
rs11661908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11662766	0.93[JPT][hapmap]
rs11664213	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11664469	0.80[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12604538	0.93[JPT][hapmap]
rs12605189	0.89[CHD][hapmap];0.93[JPT][hapmap]
rs12605267	0.82[ASN][1000 genomes]
rs12607398	0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12607919	0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs12957380	0.80[CHD][hapmap];0.93[JPT][hapmap]
rs12960349	0.83[CEU][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12961596	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12963426	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12970503	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12971069	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1523064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17603207	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs17659689	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17659749	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17659896	0.80[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1787013	0.83[MEX][hapmap]
rs2015763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282541	0.85[CHB][hapmap];0.80[CHD][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28551661	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28654613	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34166083	0.84[ASN][1000 genomes]
rs34302481	0.84[ASN][1000 genomes]
rs35368962	0.84[ASN][1000 genomes]
rs35563947	0.84[ASN][1000 genomes]
rs3809914	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3976787	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4499304	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs56263236	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58871601	0.87[EUR][1000 genomes]
rs6505772	0.86[JPT][hapmap]
rs68004799	0.84[ASN][1000 genomes]
rs7228684	0.80[CHD][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7229406	0.85[JPT][hapmap]
rs7229869	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7230391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230435	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7234163	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7236710	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8083393	0.93[JPT][hapmap]
rs8083401	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8086882	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8088752	0.93[JPT][hapmap]
rs8089724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8090667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8092888	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8093236	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs8093576	1.00[CEU][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8096860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8566	0.84[ASN][1000 genomes]
rs9950241	0.83[EUR][1000 genomes];0.83[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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS 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	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12998400-13041600	Strong transcription	Dnd41	blood
5	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
6	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
8	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:13002800-13021200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:13004800-13024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr18:13004800-13031800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr18:13007800-13021000	Strong transcription	Liver	Liver
17	chr18:13007800-13022400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:13008000-13022000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr18:13008000-13025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr18:13008200-13021200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:13008400-13020400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr18:13008400-13020800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:13008400-13020800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr18:13008400-13020800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr18:13008400-13021000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:13008400-13021000	Strong transcription	Adipose Nuclei	Adipose
28	chr18:13008400-13021800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr18:13008400-13022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr18:13008600-13020600	Strong transcription	Brain Anterior Caudate	brain
32	chr18:13008600-13022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:13011200-13021200	Strong transcription	Fetal Muscle Leg	muscle
34	chr18:13011200-13022000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:13011400-13021800	Strong transcription	K562	blood
36	chr18:13011400-13022600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr18:13011400-13034000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:13011400-13038800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:13011800-13023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:13011800-13024200	Strong transcription	HSMM	muscle
41	chr18:13011800-13033800	Strong transcription	Primary B cells from cord blood	blood
42	chr18:13012000-13020800	Strong transcription	Hela-S3	cervix
43	chr18:13013600-13025600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:13013800-13031800	Weak transcription	Pancreas	Pancrea
45	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
46	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:13014200-13029800	Weak transcription	Colonic Mucosa	Colon
48	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
49	chr18:13014600-13020800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr18:13014800-13020600	Strong transcription	Fetal Brain Female	brain

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