Variant report

Variant	rs11508471
Chromosome Location	chr7:21540972-21540973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2237304	0.88[CEU][hapmap];0.85[CHB][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237305	0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282893	0.87[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282902	0.85[EUR][1000 genomes]
rs39304	0.86[YRI][hapmap]
rs55672935	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55844648	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59497715	0.81[ASN][1000 genomes]
rs62439716	0.89[EUR][1000 genomes]
rs62439717	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6461570	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6943809	0.84[CHB][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6945742	0.81[EUR][1000 genomes]
rs6954187	0.83[ASN][1000 genomes]
rs6955626	0.94[CEU][hapmap]
rs6974789	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976865	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7790804	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
3	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
4	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:21530600-21541800	Weak transcription	Thymus	Thymus
10	chr7:21531400-21544400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:21532800-21542800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:21533200-21542800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:21533200-21547600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:21533400-21550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:21533600-21542000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:21533600-21549800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:21534200-21541200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:21534400-21541000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:21534800-21542800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:21536600-21543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:21536600-21549400	Weak transcription	Left Ventricle	heart
22	chr7:21536600-21550000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:21536600-21550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
25	chr7:21536800-21541200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:21536800-21544000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:21536800-21550800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:21536800-21550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:21537000-21543000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:21537000-21547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:21537400-21549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:21538600-21541400	Weak transcription	Fetal Heart	heart
34	chr7:21538600-21541800	Weak transcription	Fetal Kidney	kidney
35	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:21539200-21541800	Weak transcription	Spleen	Spleen
37	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:21539800-21541600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:21539800-21551600	Strong transcription	Primary B cells from cord blood	blood
42	chr7:21540000-21541000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:21540000-21541200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:21540000-21541400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:21540000-21541600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr7:21540000-21542200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:21540000-21543000	Strong transcription	Primary T cells from cord blood	blood
48	chr7:21540200-21542800	ZNF genes & repeats	Fetal Brain Female	brain
49	chr7:21540200-21543600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:21540200-21544600	Strong transcription	Ovary	ovary

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