Variant report

Variant	rs2693743
Chromosome Location	chr7:129554373-129554374
allele	A/G
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	chr7:129553929..129555431-chr7:129558253..129560539,2	MCF-7	breast:
4	chr7:129552819..129554448-chr7:129562935..129564976,2	K562	blood:
5	chr7:129547874..129549625-chr7:129552629..129554432,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[EUR][1000 genomes]
rs2631604	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2631609	0.89[AFR][1000 genomes]
rs2693722	1.00[EUR][1000 genomes]
rs2693740	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693747	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727459	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727461	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	1.00[EUR][1000 genomes]
rs2727476	1.00[EUR][1000 genomes]
rs2727480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727481	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs2727501	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][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:122 , 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	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
6	chr7:129539600-129554800	Weak transcription	Dnd41	blood
7	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
8	chr7:129544800-129559400	Weak transcription	Lung	lung
9	chr7:129547000-129557200	Weak transcription	Colonic Mucosa	Colon
10	chr7:129547000-129563600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:129547400-129554600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:129547400-129554600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:129547400-129557000	Weak transcription	Fetal Lung	lung
14	chr7:129547400-129563600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:129547600-129554400	Weak transcription	Fetal Kidney	kidney
17	chr7:129547600-129555600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:129547600-129558400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:129548000-129557600	Weak transcription	HepG2	liver
20	chr7:129548400-129562600	Weak transcription	Hela-S3	cervix
21	chr7:129548800-129554400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:129548800-129554400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:129548800-129554400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:129548800-129557200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:129549000-129554400	Weak transcription	Brain Angular Gyrus	brain
26	chr7:129549000-129554400	Weak transcription	HSMM	muscle
27	chr7:129549000-129554400	Weak transcription	HSMMtube	muscle
28	chr7:129549000-129554800	Weak transcription	HUVEC	blood vessel
29	chr7:129549000-129555600	Weak transcription	Liver	Liver
30	chr7:129549000-129556000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:129549200-129554400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:129549200-129554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:129549200-129554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:129549200-129557200	Weak transcription	Fetal Brain Female	brain
35	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:129549400-129555000	Weak transcription	Spleen	Spleen
37	chr7:129549400-129555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:129549400-129555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:129549400-129556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:129549400-129557400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:129549600-129554400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:129549600-129555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:129549600-129556000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:129549800-129554400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:129549800-129554400	Weak transcription	Stomach Mucosa	stomach
47	chr7:129549800-129554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:129549800-129555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:129549800-129555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:129549800-129572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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