Variant report

Variant	rs62487615
Chromosome Location	chr7:138163424-138163425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138064132..138065748-chr7:138161608..138163867,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10155993	0.90[ASN][1000 genomes]
rs10215281	0.90[ASN][1000 genomes]
rs10232771	0.86[ASN][1000 genomes]
rs10258706	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030961	0.85[ASN][1000 genomes]
rs1077772	0.92[ASN][1000 genomes]
rs1116324	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11976614	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12112459	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12666310	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1421604	0.90[ASN][1000 genomes]
rs1544733	0.81[ASN][1000 genomes]
rs1616318	0.81[AMR][1000 genomes]
rs1659830	0.81[EUR][1000 genomes]
rs1673203	0.81[ASN][1000 genomes]
rs1673204	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1673206	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673207	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17364560	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17461551	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2353354	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3757381	0.85[ASN][1000 genomes]
rs3778705	0.83[ASN][1000 genomes]
rs3807155	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3807156	0.87[ASN][1000 genomes]
rs3807157	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55723768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56092804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57407834	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58562866	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62485261	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62485263	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62485264	0.84[ASN][1000 genomes]
rs62487612	0.81[ASN][1000 genomes]
rs62487613	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62487616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62487619	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6467776	0.90[ASN][1000 genomes]
rs6467778	0.90[ASN][1000 genomes]
rs6467780	0.85[ASN][1000 genomes]
rs6963539	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970175	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974877	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978524	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs728092	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs749546	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795981	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808392	0.89[ASN][1000 genomes]
rs888609	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9791462	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985299	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138147000-138165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
5	chr7:138148200-138164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:138153800-138166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
9	chr7:138154800-138163800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:138154800-138167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:138156000-138165200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:138157000-138165200	Enhancers	Liver	Liver
14	chr7:138157600-138164200	Weak transcription	Pancreas	Pancrea
15	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:138157800-138166800	Weak transcription	Right Atrium	heart
17	chr7:138159400-138163600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:138159400-138165400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:138159800-138163800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:138160200-138175000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:138160600-138164200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:138160600-138164200	Weak transcription	Lung	lung
23	chr7:138160600-138168400	Weak transcription	Gastric	stomach
24	chr7:138160600-138182200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:138161200-138163800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:138161200-138164200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:138161200-138165400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:138161400-138163600	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:138161400-138163600	Enhancers	Fetal Intestine Small	intestine
30	chr7:138161400-138163600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:138161400-138163800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:138161400-138164000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:138161400-138164000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:138161400-138164200	Enhancers	Fetal Intestine Large	intestine
35	chr7:138161400-138164400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:138161400-138164400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:138161600-138163600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:138161600-138163600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr7:138161600-138164200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:138161800-138163600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:138161800-138163600	Enhancers	Small Intestine	intestine
42	chr7:138161800-138164000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:138161800-138165000	Enhancers	Stomach Mucosa	stomach
44	chr7:138161800-138165000	Enhancers	HepG2	liver
45	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
46	chr7:138162000-138164000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:138162000-138175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:138162200-138164000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:138162200-138164400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:138162400-138163800	Enhancers	Fetal Lung	lung

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