Variant report

Variant	rs59437461
Chromosome Location	chr7:8084157-8084158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16872488	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17141597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141865	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17141876	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17142053	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17142255	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17142349	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142477	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17142679	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17142685	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17142716	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58145708	0.92[AMR][1000 genomes]
rs58348680	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58707745	0.94[AMR][1000 genomes]
rs59427694	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59697814	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60920460	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61351831	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62433384	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433385	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62433405	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62433406	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62433407	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433408	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433442	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433444	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62433449	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62435365	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62435371	0.86[AMR][1000 genomes]
rs9640055	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8041600-8095000	Weak transcription	Gastric	stomach
2	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:8064400-8096200	Weak transcription	NHLF	lung
5	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:8066400-8090800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:8066600-8099800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:8066800-8091200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:8066800-8095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:8066800-8095600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:8066800-8099800	Weak transcription	Brain Anterior Caudate	brain
16	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:8067000-8091800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
19	chr7:8067200-8095600	Weak transcription	Fetal Lung	lung
20	chr7:8067600-8095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:8068000-8095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:8069800-8095800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
24	chr7:8075000-8125800	Weak transcription	Lung	lung
25	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:8075600-8095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:8075600-8095000	Weak transcription	Aorta	Aorta
28	chr7:8075600-8095000	Weak transcription	Ovary	ovary
29	chr7:8075600-8095200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:8075600-8101400	Weak transcription	K562	blood
31	chr7:8075600-8104400	Weak transcription	HMEC	breast
32	chr7:8075600-8105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:8075800-8084400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:8075800-8084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:8075800-8086800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:8075800-8095200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:8075800-8095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:8076000-8087000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:8076000-8088800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:8076000-8095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:8076000-8095000	Weak transcription	Fetal Intestine Large	intestine
44	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
45	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
46	chr7:8076200-8102200	Weak transcription	Fetal Brain Female	brain
47	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
48	chr7:8076800-8088000	Weak transcription	Brain Substantia Nigra	brain
49	chr7:8076800-8088800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:8076800-8095600	Weak transcription	Primary hematopoietic stem cells	blood

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