Variant report

Variant	rs3735276
Chromosome Location	chr7:50517053-50517054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1007702	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1007749	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575304	0.86[AFR][1000 genomes]
rs11575332	1.00[EUR][1000 genomes]
rs11575359	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575400	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575413	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575424	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11575425	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575460	0.86[AFR][1000 genomes]
rs11575506	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531158	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12532576	0.86[AFR][1000 genomes]
rs12535024	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451367	0.87[AFR][1000 genomes]
rs1451370	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665398	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665588	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665670	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1817073	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868886	1.00[AMR][1000 genomes]
rs3779075	1.00[EUR][1000 genomes]
rs3779076	1.00[EUR][1000 genomes]
rs4077492	0.87[AFR][1000 genomes]
rs4947511	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947576	0.81[AMR][1000 genomes]
rs4947580	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947594	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947634	1.00[EUR][1000 genomes]
rs4948010	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4948197	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948201	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948216	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57313968	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6592962	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947293	0.86[AFR][1000 genomes]
rs6951323	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952938	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953661	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959596	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968322	0.86[AFR][1000 genomes]
rs6976009	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs731689	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791562	1.00[AFR][1000 genomes]
rs7792474	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7797311	0.86[AFR][1000 genomes]
rs7800887	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
2	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus
4	chr7:50502400-50517200	Weak transcription	Small Intestine	intestine
5	chr7:50504600-50517200	Weak transcription	Pancreas	Pancrea
6	chr7:50504800-50517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:50505400-50517200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:50505400-50517200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:50505600-50517200	Weak transcription	Colonic Mucosa	Colon
10	chr7:50506200-50517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:50508800-50517200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:50509400-50517200	Weak transcription	Fetal Intestine Small	intestine
13	chr7:50509400-50517400	Weak transcription	Aorta	Aorta
14	chr7:50511600-50517200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:50513600-50517400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:50514000-50517200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:50514200-50517200	Weak transcription	Fetal Brain Male	brain
18	chr7:50514200-50517200	Enhancers	Hela-S3	cervix
19	chr7:50514600-50517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:50514600-50517200	Weak transcription	Psoas Muscle	Psoas
21	chr7:50514600-50517200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:50514600-50517200	Weak transcription	Right Ventricle	heart
23	chr7:50514800-50517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50515000-50517200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:50515000-50517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:50515000-50517200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:50515000-50517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:50515000-50517200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:50515000-50517200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:50515000-50517200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:50515000-50517200	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:50515000-50517200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:50515000-50517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:50515000-50517200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:50515000-50517200	Weak transcription	Fetal Intestine Large	intestine
36	chr7:50515000-50517200	Weak transcription	Placenta	Placenta
37	chr7:50515000-50517200	Weak transcription	Gastric	stomach
38	chr7:50515000-50517200	Weak transcription	Left Ventricle	heart
39	chr7:50515000-50517200	Weak transcription	Ovary	ovary
40	chr7:50515000-50517200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:50515000-50517200	Weak transcription	Thymus	Thymus
42	chr7:50515000-50517200	Weak transcription	Spleen	Spleen
43	chr7:50515000-50517200	Weak transcription	HMEC	breast
44	chr7:50515000-50517200	Weak transcription	HSMM	muscle
45	chr7:50515000-50517200	Weak transcription	NH-A	brain
46	chr7:50515000-50517400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:50515000-50517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:50515000-50517600	Weak transcription	Lung	lung
49	chr7:50515200-50517200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:50515200-50517200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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