Variant report

Variant	rs57314877
Chromosome Location	chr7:129553263-129553264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129552819..129555561-chr7:129563082..129564976,2	K562	blood:
2	chr7:129553150..129555406-chr7:129588626..129590214,2	MCF-7	breast:
3	chr7:129552819..129554448-chr7:129562935..129564976,2	K562	blood:
4	chr7:129547874..129549625-chr7:129552629..129554432,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10216153	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10240142	0.91[AFR][1000 genomes]
rs10261367	0.80[AFR][1000 genomes]
rs10500121	0.81[AFR][1000 genomes]
rs1471876	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486831	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1526323	0.80[AFR][1000 genomes]
rs17162295	0.80[AFR][1000 genomes]
rs2037720	0.81[AFR][1000 genomes]
rs2402980	0.82[EUR][1000 genomes]
rs2727466	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2727482	0.82[EUR][1000 genomes]
rs28473687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55682483	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62489374	0.83[AFR][1000 genomes]
rs62491518	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467267	0.80[AFR][1000 genomes]
rs6959075	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73161641	0.84[AFR][1000 genomes]
rs7783328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789191	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	0.83[AFR][1000 genomes]
rs7803795	0.91[AFR][1000 genomes]
rs9656387	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	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	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
7	chr7:129539600-129554800	Weak transcription	Dnd41	blood
8	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
9	chr7:129543000-129553600	Weak transcription	Gastric	stomach
10	chr7:129544800-129559400	Weak transcription	Lung	lung
11	chr7:129545400-129553600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:129547000-129557200	Weak transcription	Colonic Mucosa	Colon
13	chr7:129547000-129563600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:129547200-129554200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:129547400-129553400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:129547400-129553400	Weak transcription	Right Atrium	heart
17	chr7:129547400-129554600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:129547400-129554600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:129547400-129557000	Weak transcription	Fetal Lung	lung
20	chr7:129547400-129563600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:129547600-129553400	Weak transcription	Aorta	Aorta
23	chr7:129547600-129554400	Weak transcription	Fetal Kidney	kidney
24	chr7:129547600-129555600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:129547600-129558400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:129547800-129553800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:129548000-129553400	Weak transcription	Right Ventricle	heart
28	chr7:129548000-129557600	Weak transcription	HepG2	liver
29	chr7:129548400-129553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:129548400-129554200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:129548400-129562600	Weak transcription	Hela-S3	cervix
32	chr7:129548600-129553600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:129548800-129553800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:129548800-129554400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:129548800-129554400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:129548800-129554400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:129548800-129557200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:129549000-129554400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:129549000-129554400	Weak transcription	HSMM	muscle
40	chr7:129549000-129554400	Weak transcription	HSMMtube	muscle
41	chr7:129549000-129554800	Weak transcription	HUVEC	blood vessel
42	chr7:129549000-129555600	Weak transcription	Liver	Liver
43	chr7:129549000-129556000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:129549200-129553800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:129549200-129554200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:129549200-129554400	Weak transcription	Brain Substantia Nigra	brain
47	chr7:129549200-129554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:129549200-129554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:129549200-129557200	Weak transcription	Fetal Brain Female	brain
50	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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