Variant report

Variant	rs765229
Chromosome Location	chr7:137575485-137575486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137575157..137577662-chr7:137579588..137583065,4	K562	blood:
2	chr7:137569917..137572586-chr7:137572838..137575553,3	K562	blood:
3	chr7:137575157..137577662-chr7:137579588..137582009,3	K562	blood:
4	chr7:137285346..137287322-chr7:137572540..137575498,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1646539	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1646540	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677498	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2007564	0.99[EUR][1000 genomes]
rs273932	0.97[EUR][1000 genomes]
rs273933	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs273934	0.83[EUR][1000 genomes]
rs273935	0.97[EUR][1000 genomes]
rs273936	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs273937	0.95[EUR][1000 genomes]
rs273938	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs273939	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs273940	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs273941	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs273942	0.87[EUR][1000 genomes]
rs273944	0.85[EUR][1000 genomes]
rs273971	0.83[ASN][1000 genomes]
rs34608459	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv608470	chr7:137573187-137577761	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
5	chr7:137561000-137577000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:137567200-137583800	Strong transcription	Liver	Liver
7	chr7:137567400-137580200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:137567400-137583400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr7:137567400-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:137567400-137584000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:137568000-137584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:137568600-137584000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:137568800-137578800	Weak transcription	Fetal Kidney	kidney
14	chr7:137570200-137577800	Weak transcription	Small Intestine	intestine
15	chr7:137570200-137578600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:137570200-137578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:137570200-137579800	Weak transcription	A549	lung
18	chr7:137570400-137578200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:137570400-137578400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:137570400-137578600	Weak transcription	Aorta	Aorta
21	chr7:137570400-137579200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:137570400-137584000	Weak transcription	Fetal Thymus	thymus
23	chr7:137570400-137585800	Weak transcription	Hela-S3	cervix
24	chr7:137570600-137578000	Weak transcription	HUVEC	blood vessel
25	chr7:137570600-137578600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:137570600-137579200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:137570600-137580600	Weak transcription	Esophagus	oesophagus
28	chr7:137570600-137580600	Weak transcription	Gastric	stomach
29	chr7:137570600-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:137570600-137585400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:137570800-137575800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:137570800-137576000	Weak transcription	Ovary	ovary
33	chr7:137570800-137578200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:137570800-137578600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:137570800-137578600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:137571000-137576000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:137571200-137578200	Weak transcription	Spleen	Spleen
38	chr7:137571400-137578400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:137571400-137579800	Weak transcription	NHEK	skin
40	chr7:137571400-137584000	Weak transcription	Thymus	Thymus
41	chr7:137571600-137578000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:137571800-137588200	Weak transcription	Brain Angular Gyrus	brain
43	chr7:137572000-137575600	Strong transcription	Osteobl	bone
44	chr7:137572000-137576600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:137572000-137576600	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:137572000-137578000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:137572000-137578000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:137572000-137578600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:137572000-137583800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:137572000-137584000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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