Variant report

Variant	rs11520996
Chromosome Location	chr7:104810913-104810914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1019040	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10231782	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10241374	0.81[EUR][1000 genomes]
rs10245589	0.83[AMR][1000 genomes]
rs10260346	0.82[EUR][1000 genomes]
rs10269027	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280470	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808140	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953466	0.81[ASN][1000 genomes]
rs11973516	0.87[ASN][1000 genomes]
rs11976329	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12534140	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12540007	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12667625	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12671368	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12705299	0.86[AMR][1000 genomes]
rs13245298	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859786	0.90[EUR][1000 genomes]
rs1967301	0.89[EUR][1000 genomes]
rs1978201	0.81[EUR][1000 genomes]
rs2214928	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237602	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2237604	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237605	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2237606	0.90[EUR][1000 genomes]
rs2237607	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237608	0.83[EUR][1000 genomes]
rs2237609	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237610	0.85[EUR][1000 genomes]
rs2240453	0.82[EUR][1000 genomes]
rs2240455	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240457	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240465	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2283016	0.93[EUR][1000 genomes]
rs2299297	0.89[ASN][1000 genomes]
rs2299299	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28434158	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3213676	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4730068	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730069	0.82[EUR][1000 genomes]
rs4730071	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466045	0.91[EUR][1000 genomes]
rs6466046	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6944847	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6952534	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6973052	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs757958	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780887	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7783812	0.90[EUR][1000 genomes]
rs7785197	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7787558	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7810119	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9641341	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
3	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
4	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
7	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
8	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:104786400-104812200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:104787000-104813800	Weak transcription	Right Atrium	heart
11	chr7:104787600-104813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:104791000-104813800	Weak transcription	Pancreas	Pancrea
13	chr7:104799800-104811000	Weak transcription	Esophagus	oesophagus
14	chr7:104799800-104813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:104805000-104818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:104805800-104813800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:104806400-104812800	Weak transcription	Aorta	Aorta
18	chr7:104806400-104813800	Weak transcription	Gastric	stomach
19	chr7:104806400-104813800	Weak transcription	Psoas Muscle	Psoas
20	chr7:104806400-104814000	Weak transcription	Right Ventricle	heart
21	chr7:104806400-104819000	Weak transcription	Lung	lung
22	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:104806600-104811200	Weak transcription	GM12878-XiMat	blood
24	chr7:104806600-104811400	Weak transcription	Fetal Lung	lung
25	chr7:104806600-104811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:104807600-104812600	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:104807600-104829800	Weak transcription	Thymus	Thymus
30	chr7:104807800-104811000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:104807800-104811200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:104807800-104812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:104807800-104813000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:104807800-104815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:104807800-104816400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:104807800-104818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:104807800-104819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:104808000-104811800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:104808000-104812000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:104808000-104813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:104808000-104813800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:104808000-104815200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:104808000-104819600	Weak transcription	NHEK	skin
44	chr7:104808000-104820600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:104808200-104813800	Weak transcription	Ovary	ovary
46	chr7:104808400-104811200	Weak transcription	Fetal Stomach	stomach
47	chr7:104808400-104820600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:104808800-104814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:104808800-104819000	Weak transcription	HepG2	liver
50	chr7:104808800-104822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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