Variant report

Variant	rs11750172
Chromosome Location	chr5:142671661-142671662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10482634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10482655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10482682	0.83[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11745958	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17209216	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17209237	0.91[EUR][1000 genomes]
rs17209251	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17209258	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17339455	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17399352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013935	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2398631	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2963156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33944801	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35501467	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4912903	0.98[ASN][1000 genomes]
rs4912906	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912908	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4986593	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62375499	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62375502	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9324916	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv5041	chr5:142653189-142697896	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142646600-142672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:142650000-142674000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:142650600-142677200	Weak transcription	Aorta	Aorta
4	chr5:142653200-142674800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:142655200-142674000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:142655200-142674200	Weak transcription	Brain Angular Gyrus	brain
7	chr5:142655400-142672600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:142655800-142671800	Weak transcription	Psoas Muscle	Psoas
9	chr5:142655800-142677200	Weak transcription	Spleen	Spleen
10	chr5:142655800-142699200	Strong transcription	Dnd41	blood
11	chr5:142656000-142677400	Weak transcription	Gastric	stomach
12	chr5:142656600-142677000	Weak transcription	Lung	lung
13	chr5:142657000-142674000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:142657800-142671800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:142657800-142695400	Weak transcription	Pancreas	Pancrea
16	chr5:142658000-142679000	Weak transcription	Colonic Mucosa	Colon
17	chr5:142658200-142694800	Weak transcription	Right Ventricle	heart
18	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
19	chr5:142658800-142677400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:142659400-142677200	Weak transcription	HSMMtube	muscle
21	chr5:142659600-142674600	Weak transcription	HepG2	liver
22	chr5:142659600-142677400	Weak transcription	Ovary	ovary
23	chr5:142659800-142679400	Weak transcription	Small Intestine	intestine
24	chr5:142659800-142692600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:142661600-142677200	Weak transcription	HUVEC	blood vessel
26	chr5:142662400-142673000	Weak transcription	NH-A	brain
27	chr5:142662600-142672800	Weak transcription	Fetal Kidney	kidney
28	chr5:142664000-142672000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:142664000-142672200	Weak transcription	Fetal Heart	heart
30	chr5:142664000-142673800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:142664000-142674000	Weak transcription	Brain Substantia Nigra	brain
32	chr5:142664000-142677400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:142664000-142684600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:142664000-142685000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:142664200-142674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:142664400-142681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:142664400-142693400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:142664800-142672000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:142667200-142682000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:142667400-142688800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:142667800-142681200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:142668000-142680200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:142668200-142680200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:142668600-142674800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr5:142668600-142678400	Strong transcription	A549	lung
46	chr5:142668600-142680400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:142668600-142680800	Strong transcription	NHDF-Ad	bronchial
48	chr5:142668600-142688800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:142668800-142676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:142668800-142678600	Weak transcription	Fetal Stomach	stomach

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