Variant report

Variant	rs888609
Chromosome Location	chr7:138156959-138156960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137974611..137977011-chr7:138155722..138157358,2	K562	blood:
2	chr7:138156072..138158868-chr7:138175112..138176901,2	K562	blood:
3	chr7:138156609..138159156-chr7:138163880..138167258,3	K562	blood:

Variant related genes	Relation type
ENSG00000234995	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10155993	0.89[ASN][1000 genomes]
rs10215281	0.89[ASN][1000 genomes]
rs10232771	0.85[ASN][1000 genomes]
rs10258706	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1030961	0.83[ASN][1000 genomes]
rs1077772	0.93[ASN][1000 genomes]
rs1116324	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11976614	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12112459	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666310	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1421604	0.89[ASN][1000 genomes]
rs1659830	0.81[EUR][1000 genomes]
rs1673204	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1673206	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673207	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17364560	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17461551	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2353354	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757381	0.84[ASN][1000 genomes]
rs3778705	0.81[ASN][1000 genomes]
rs3807155	0.82[EUR][1000 genomes]
rs3807156	0.86[ASN][1000 genomes]
rs3807157	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55723768	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56092804	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57407834	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58562866	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62485261	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62485263	0.83[ASN][1000 genomes]
rs62485264	0.83[ASN][1000 genomes]
rs62487612	0.82[ASN][1000 genomes]
rs62487613	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62487615	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62487616	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62487619	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467776	0.89[ASN][1000 genomes]
rs6467778	0.89[ASN][1000 genomes]
rs6467780	0.83[ASN][1000 genomes]
rs6963539	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6970175	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6974877	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6978524	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs728092	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs749546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795981	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808392	0.88[ASN][1000 genomes]
rs9791462	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs985299	0.83[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	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138146800-138163200	Weak transcription	Aorta	Aorta
2	chr7:138147000-138157200	Weak transcription	Gastric	stomach
3	chr7:138147000-138160200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:138147000-138161400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:138147000-138162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:138147000-138162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:138147000-138165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:138147200-138163200	Weak transcription	Fetal Thymus	thymus
9	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
11	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
12	chr7:138147400-138160000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:138147600-138157400	Weak transcription	Right Atrium	heart
14	chr7:138148200-138157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:138148200-138160200	Weak transcription	Lung	lung
16	chr7:138148200-138163000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:138148200-138164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:138148400-138159400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:138148400-138160200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:138150000-138159400	Weak transcription	Dnd41	blood
22	chr7:138152400-138160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:138153400-138157400	Genic enhancers	HepG2	liver
24	chr7:138153600-138161400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:138153800-138157000	Weak transcription	Ovary	ovary
26	chr7:138153800-138157200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:138153800-138157400	Weak transcription	Spleen	Spleen
28	chr7:138153800-138158600	Weak transcription	Right Ventricle	heart
29	chr7:138153800-138159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:138153800-138159400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:138153800-138160600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:138153800-138161800	Weak transcription	Small Intestine	intestine
33	chr7:138153800-138163200	Weak transcription	Left Ventricle	heart
34	chr7:138153800-138166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
36	chr7:138154000-138157000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:138154000-138159400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:138154000-138159400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:138154000-138161800	Weak transcription	Brain Angular Gyrus	brain
40	chr7:138154200-138157600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:138154200-138161200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:138154400-138159400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:138154800-138157000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:138154800-138159000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:138154800-138163800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:138154800-138167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:138155200-138157200	Weak transcription	Pancreas	Pancrea
48	chr7:138155200-138159400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:138155200-138160200	Weak transcription	Psoas Muscle	Psoas
50	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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