Variant report

Variant	rs71509867
Chromosome Location	chr9:78984975-78984976
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	chr9:78937965..78939769-chr9:78983813..78985736,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11144860	1.00[EUR][1000 genomes]
rs11791134	1.00[EUR][1000 genomes]
rs13284427	0.87[EUR][1000 genomes]
rs13284503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13286468	1.00[EUR][1000 genomes]
rs13289362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13290389	1.00[EUR][1000 genomes]
rs13291010	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13292857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13295158	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13295871	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13297827	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13298404	1.00[EUR][1000 genomes]
rs13299207	1.00[EUR][1000 genomes]
rs17721472	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17777982	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34037675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34046058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34283683	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34286732	0.90[EUR][1000 genomes]
rs34307519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34380148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34434749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34571197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34695412	1.00[EUR][1000 genomes]
rs34922670	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34990453	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35012067	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35031885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35089043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35141782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35171014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35184004	0.87[EUR][1000 genomes]
rs35207397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35242982	1.00[EUR][1000 genomes]
rs35363570	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35432738	0.93[EUR][1000 genomes]
rs35800025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35862905	0.87[EUR][1000 genomes]
rs35968404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036209	0.87[EUR][1000 genomes]
rs58998344	0.84[EUR][1000 genomes]
rs7046651	1.00[EUR][1000 genomes]
rs71509868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71509870	1.00[EUR][1000 genomes]
rs71509872	1.00[EUR][1000 genomes]
rs71509873	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71509874	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71509875	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71509878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71509879	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78964400-78986400	Weak transcription	Colonic Mucosa	Colon
2	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
3	chr9:78978800-78987000	Weak transcription	Small Intestine	intestine
4	chr9:78979400-78986800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:78980400-78986800	Weak transcription	HSMM	muscle
6	chr9:78980400-78987000	Weak transcription	HSMMtube	muscle
7	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:78981200-78986800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:78981600-78988000	Weak transcription	K562	blood
10	chr9:78983200-78985400	Enhancers	Fetal Intestine Large	intestine
11	chr9:78983200-78985600	Enhancers	Duodenum Mucosa	Duodenum
12	chr9:78983400-78985200	Enhancers	Fetal Intestine Small	intestine
13	chr9:78983600-78985000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr9:78983800-78985000	Enhancers	Pancreas	Pancrea
15	chr9:78983800-78985800	Enhancers	Liver	Liver
16	chr9:78983800-78985800	Enhancers	HepG2	liver
17	chr9:78983800-78986000	Enhancers	Stomach Mucosa	stomach
18	chr9:78983800-78986400	Enhancers	A549	lung
19	chr9:78983800-78989000	Enhancers	Fetal Lung	lung
20	chr9:78984000-78985000	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:78984000-78985000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:78984000-78986200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:78984400-78985000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:78984400-78985000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:78984400-78985000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:78984400-78985000	Enhancers	Fetal Heart	heart
27	chr9:78984400-78985000	Enhancers	Fetal Muscle Leg	muscle
28	chr9:78984400-78985200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:78984400-78985600	Enhancers	GM12878-XiMat	blood
30	chr9:78984400-78985600	Enhancers	NH-A	brain
31	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
32	chr9:78984600-78985000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:78984600-78985000	Enhancers	Fetal Stomach	stomach
34	chr9:78984600-78985200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr9:78984600-78986800	Weak transcription	Osteobl	bone
36	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:78984800-78985000	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:78984800-78985400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:78984800-78985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:78984800-78986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:78984800-78986800	Weak transcription	HUVEC	blood vessel
42	chr9:78984800-78987200	Weak transcription	NHLF	lung
43	chr9:78984800-78987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart

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