Variant report

Variant	rs2402980
Chromosome Location	chr7:129544198-129544199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129543014..129545443-chr7:129549308..129551080,2	K562	blood:
2	chr7:129418574..129420391-chr7:129542627..129545526,2	K562	blood:
3	chr7:129542833..129545187-chr7:129548253..129550417,2	MCF-7	breast:
4	chr7:129536867..129540037-chr7:129542544..129546019,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11765073	0.82[AFR][1000 genomes]
rs1464973	0.85[AFR][1000 genomes]
rs1471875	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1471876	0.83[AMR][1000 genomes]
rs1725077	0.84[AFR][1000 genomes]
rs1725078	0.82[AFR][1000 genomes]
rs2631603	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2693724	0.82[AFR][1000 genomes]
rs2693725	0.80[AFR][1000 genomes]
rs2708637	0.82[AFR][1000 genomes]
rs2708649	0.82[AFR][1000 genomes]
rs2727464	0.83[AFR][1000 genomes]
rs2727477	0.91[AFR][1000 genomes]
rs2727482	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2727487	0.80[AFR][1000 genomes]
rs2727500	0.90[AFR][1000 genomes]
rs2727507	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28473687	0.82[EUR][1000 genomes]
rs57314877	0.82[EUR][1000 genomes]
rs7783328	0.80[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
4	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
11	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:129522600-129544600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:129529800-129544400	Weak transcription	Right Atrium	heart
18	chr7:129529800-129545000	Weak transcription	Fetal Kidney	kidney
19	chr7:129529800-129545200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:129529800-129546200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
22	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
24	chr7:129535400-129546800	Weak transcription	Colonic Mucosa	Colon
25	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:129537000-129546600	Weak transcription	A549	lung
27	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
28	chr7:129537200-129544200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:129538600-129546200	Weak transcription	HUVEC	blood vessel
31	chr7:129539000-129546600	Weak transcription	NH-A	brain
32	chr7:129539200-129546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:129539200-129546800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:129539400-129545000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:129539400-129545400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:129539600-129545200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:129539600-129554800	Weak transcription	Dnd41	blood
38	chr7:129540400-129545400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:129541000-129544800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:129541000-129544800	Strong transcription	Fetal Stomach	stomach
41	chr7:129541000-129546200	Strong transcription	Fetal Intestine Small	intestine
42	chr7:129541000-129546800	Strong transcription	Fetal Thymus	thymus
43	chr7:129541000-129547400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:129541000-129552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:129541200-129545200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:129541200-129546200	Enhancers	Psoas Muscle	Psoas
47	chr7:129541200-129546600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:129541200-129546600	Weak transcription	Fetal Lung	lung
49	chr7:129541200-129548000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr7:129541400-129545400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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