Variant report

Variant	rs12340823
Chromosome Location	chr9:101135975-101135976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101135605..101137145-chr9:101138879..101140848,2	K562	blood:
2	chr9:101125220..101129376-chr9:101135603..101141784,6	K562	blood:
3	chr9:101131416..101134090-chr9:101135125..101136966,2	MCF-7	breast:
4	chr9:101127682..101131370-chr9:101135028..101139404,5	K562	blood:
5	chr9:101135309..101136944-chr9:101137021..101138773,2	K562	blood:
6	chr9:101132158..101134151-chr9:101134451..101136659,2	MCF-7	breast:
7	chr9:101125471..101127480-chr9:101134828..101138522,3	K562	blood:
8	chr9:101131978..101133928-chr9:101135656..101138427,3	K562	blood:
9	chr9:101130044..101133928-chr9:101135656..101137826,5	K562	blood:
10	chr9:101134634..101137375-chr9:101146278..101148960,2	K562	blood:
11	chr9:101135309..101137051-chr9:101137273..101139774,2	K562	blood:

No data

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10115570	0.93[CEU][hapmap]
rs10122943	0.93[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10818832	1.00[CEU][hapmap]
rs10818833	1.00[CEU][hapmap]
rs10818876	0.93[CEU][hapmap]
rs10986060	1.00[CEU][hapmap]
rs10986071	1.00[YRI][hapmap]
rs10986076	0.86[EUR][1000 genomes]
rs10986078	0.86[EUR][1000 genomes]
rs10986080	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10986084	0.93[CEU][hapmap]
rs12344879	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12346403	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12352641	0.93[CEU][hapmap]
rs12352643	0.93[CEU][hapmap]
rs16915331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696686	0.93[CEU][hapmap]
rs17768880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304388	0.93[CEU][hapmap]
rs3780421	0.93[CEU][hapmap]
rs57686796	0.91[EUR][1000 genomes]
rs62574339	0.89[ASN][1000 genomes]
rs62574340	0.89[ASN][1000 genomes]
rs62574341	0.89[ASN][1000 genomes]
rs62574342	0.89[ASN][1000 genomes]
rs62574343	1.00[ASN][1000 genomes]
rs62574358	1.00[ASN][1000 genomes]
rs62574569	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62576560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576561	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576562	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62576564	0.91[EUR][1000 genomes]
rs650545	0.89[ASN][1000 genomes]
rs7031472	0.93[CEU][hapmap]
rs7032844	0.93[CEU][hapmap]
rs7042831	0.85[CEU][hapmap]
rs7044824	0.93[CEU][hapmap]
rs7044961	0.93[CEU][hapmap]
rs7046871	0.93[CEU][hapmap]
rs724890	0.93[CEU][hapmap]
rs72759660	0.89[ASN][1000 genomes]
rs9886725	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs9886874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101126600-101142600	Weak transcription	Brain Angular Gyrus	brain
2	chr9:101128200-101164200	Weak transcription	Brain Germinal Matrix	brain
3	chr9:101129000-101156000	Weak transcription	Fetal Brain Female	brain
4	chr9:101132800-101142800	Weak transcription	Right Atrium	heart
5	chr9:101133400-101138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:101133400-101139400	Enhancers	Pancreas	Pancrea
7	chr9:101133400-101142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:101134000-101136000	Enhancers	Fetal Brain Male	brain
9	chr9:101134000-101136600	Enhancers	K562	blood
10	chr9:101134200-101142600	Enhancers	Fetal Intestine Large	intestine
11	chr9:101134400-101142400	Enhancers	Fetal Intestine Small	intestine
12	chr9:101134600-101136800	Enhancers	NHDF-Ad	bronchial
13	chr9:101134600-101139400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:101134800-101140000	Weak transcription	Spleen	Spleen
15	chr9:101134800-101142400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:101134800-101143000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:101135200-101136800	Enhancers	Osteobl	bone
18	chr9:101135200-101138400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:101135400-101136800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:101135400-101136800	Enhancers	NH-A	brain
21	chr9:101135600-101136600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:101135600-101137000	Enhancers	HSMM	muscle
23	chr9:101135600-101137600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:101135600-101137800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:101135600-101138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:101135800-101136000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:101135800-101136000	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:101135800-101136000	Enhancers	HSMMtube	muscle
29	chr9:101135800-101137000	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:101135800-101138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:101135800-101138000	Enhancers	NHLF	lung
32	chr9:101135800-101138200	Enhancers	HUVEC	blood vessel
33	chr9:101135800-101140000	Weak transcription	Fetal Muscle Trunk	muscle

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