Variant report

Variant	rs73288387
Chromosome Location	chr7:12278805-12278806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10488200	1.00[EUR][1000 genomes]
rs10488201	1.00[EUR][1000 genomes]
rs10488202	1.00[EUR][1000 genomes]
rs10488203	1.00[EUR][1000 genomes]
rs10488205	1.00[EUR][1000 genomes]
rs17165572	1.00[EUR][1000 genomes]
rs17165583	1.00[EUR][1000 genomes]
rs17165585	1.00[EUR][1000 genomes]
rs17165586	1.00[EUR][1000 genomes]
rs17165587	1.00[EUR][1000 genomes]
rs17165589	1.00[EUR][1000 genomes]
rs17165590	1.00[EUR][1000 genomes]
rs17165591	1.00[EUR][1000 genomes]
rs17165602	1.00[EUR][1000 genomes]
rs17165605	1.00[EUR][1000 genomes]
rs17165607	1.00[EUR][1000 genomes]
rs17165608	1.00[EUR][1000 genomes]
rs17165609	1.00[EUR][1000 genomes]
rs17165617	1.00[EUR][1000 genomes]
rs17165620	1.00[EUR][1000 genomes]
rs17165621	1.00[EUR][1000 genomes]
rs17165622	1.00[EUR][1000 genomes]
rs17165647	1.00[EUR][1000 genomes]
rs17165810	1.00[EUR][1000 genomes]
rs17165812	1.00[EUR][1000 genomes]
rs2110714	1.00[EUR][1000 genomes]
rs2192835	1.00[EUR][1000 genomes]
rs4721033	1.00[EUR][1000 genomes]
rs4721034	1.00[EUR][1000 genomes]
rs60576080	1.00[EUR][1000 genomes]
rs60894519	1.00[EUR][1000 genomes]
rs61400397	1.00[EUR][1000 genomes]
rs6952547	1.00[EUR][1000 genomes]
rs6973077	1.00[EUR][1000 genomes]
rs73287176	1.00[EUR][1000 genomes]
rs73299037	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73301046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678628	1.00[EUR][1000 genomes]
rs73678641	1.00[EUR][1000 genomes]
rs73678643	1.00[EUR][1000 genomes]
rs73678645	1.00[EUR][1000 genomes]
rs7777276	1.00[EUR][1000 genomes]
rs7785068	1.00[EUR][1000 genomes]
rs7790766	1.00[EUR][1000 genomes]
rs7791073	1.00[EUR][1000 genomes]
rs7791085	1.00[EUR][1000 genomes]
rs7807215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
2	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
3	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
4	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
7	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
11	chr7:12255200-12279000	Strong transcription	Liver	Liver
12	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
13	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:12260400-12279400	Weak transcription	NHDF-Ad	bronchial
16	chr7:12263200-12279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:12264200-12279800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:12264200-12280000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:12264200-12280000	Weak transcription	Ovary	ovary
20	chr7:12264400-12279400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:12264600-12279600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:12264600-12279600	Weak transcription	Fetal Thymus	thymus
23	chr7:12264600-12279800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:12266400-12279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:12266400-12279600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:12266400-12279800	Weak transcription	Small Intestine	intestine
27	chr7:12267000-12279000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:12270000-12284400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:12270200-12279000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:12270200-12279600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:12271800-12279600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:12271800-12280000	Weak transcription	Osteobl	bone
33	chr7:12271800-12289000	Weak transcription	HSMM	muscle
34	chr7:12272000-12279200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:12272200-12279600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:12272400-12280000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:12274600-12279200	Weak transcription	Primary B cells from cord blood	blood
38	chr7:12274800-12280000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:12277000-12279200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:12277000-12279400	Strong transcription	Adipose Nuclei	Adipose
41	chr7:12277400-12279000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:12277600-12279000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:12277600-12279000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:12277800-12279200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:12278000-12279200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:12278000-12283800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:12278200-12279400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:12278200-12279800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:12278200-12279800	Weak transcription	NH-A	brain
50	chr7:12278400-12279000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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