Variant report

Variant	rs13237614
Chromosome Location	chr7:5774102-5774103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10231534	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240006	0.83[EUR][1000 genomes]
rs10276704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12538870	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12667079	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12668235	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12672943	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13222002	0.86[EUR][1000 genomes]
rs13238618	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13239017	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13241044	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13241054	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246406	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs13247447	0.88[CEU][hapmap]
rs1468996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs2017620	0.84[EUR][1000 genomes]
rs2287592	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3779092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs3779096	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807572	0.89[ASN][1000 genomes]
rs3823681	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720646	0.82[EUR][1000 genomes]
rs4724724	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4724726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4724729	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap]
rs57360471	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6463514	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6953970	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs7808644	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr7:5737600-5774200	Strong transcription	Dnd41	blood
2	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:5755000-5780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
5	chr7:5761800-5783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:5762200-5777200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
9	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
10	chr7:5765200-5778400	Weak transcription	NHEK	skin
11	chr7:5765200-5780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
13	chr7:5767400-5780000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:5767400-5780200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:5767600-5778400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:5768800-5776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:5768800-5778400	Weak transcription	Left Ventricle	heart
18	chr7:5768800-5778600	Weak transcription	Lung	lung
19	chr7:5768800-5780600	Weak transcription	Esophagus	oesophagus
20	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
21	chr7:5769000-5777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:5769000-5778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:5769000-5778600	Weak transcription	Fetal Brain Female	brain
24	chr7:5769000-5783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain
26	chr7:5769200-5775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:5769200-5775400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:5769200-5775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:5769200-5776800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:5769200-5777200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:5769200-5777200	Weak transcription	HSMMtube	muscle
32	chr7:5769200-5778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:5769200-5778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:5769200-5778400	Weak transcription	NHLF	lung
35	chr7:5769200-5778600	Weak transcription	Brain Substantia Nigra	brain
36	chr7:5769200-5778800	Weak transcription	HUVEC	blood vessel
37	chr7:5769200-5779200	Weak transcription	Ovary	ovary
38	chr7:5769200-5779400	Weak transcription	Spleen	Spleen
39	chr7:5769200-5779800	Weak transcription	Aorta	Aorta
40	chr7:5769200-5780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:5769200-5780000	Weak transcription	Thymus	Thymus
42	chr7:5769200-5780200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:5769200-5780200	Weak transcription	Right Ventricle	heart
44	chr7:5769200-5780600	Weak transcription	Gastric	stomach
45	chr7:5769200-5785000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:5769200-5790200	Weak transcription	Pancreas	Pancrea
47	chr7:5769400-5774800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:5769400-5776200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:5769400-5777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:5769400-5777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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