Variant report

Variant	rs10988957
Chromosome Location	chr9:102815455-102815456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102802180..102804566-chr9:102815322..102818278,2	MCF-7	breast:
2	chr9:102806680..102809036-chr9:102815147..102817165,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10760707	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819718	0.96[EUR][1000 genomes]
rs10819721	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819725	0.80[EUR][1000 genomes]
rs10819726	0.81[EUR][1000 genomes]
rs10988932	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988936	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988944	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988954	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10988955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988956	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988960	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988966	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988967	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988972	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988977	0.80[EUR][1000 genomes]
rs10988978	0.81[EUR][1000 genomes]
rs10988979	0.81[EUR][1000 genomes]
rs10988980	0.80[EUR][1000 genomes]
rs11515448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377746	0.83[AMR][1000 genomes]
rs14297	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57875316	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020150	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021923	0.81[EUR][1000 genomes]
rs7022643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023412	0.83[AMR][1000 genomes]
rs7025412	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7026341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026529	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031081	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7043946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047193	0.81[EUR][1000 genomes]
rs73505717	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73505783	0.81[EUR][1000 genomes]
rs7847149	0.80[EUR][1000 genomes]
rs7849323	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7850961	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7858119	0.80[EUR][1000 genomes]
rs7858208	0.80[EUR][1000 genomes]
rs7860268	0.83[AMR][1000 genomes]
rs7860660	0.81[EUR][1000 genomes]
rs7867803	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868446	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868632	0.81[EUR][1000 genomes]
rs7870469	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870701	0.81[EUR][1000 genomes]
rs7872897	0.83[AMR][1000 genomes]
rs7873545	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription 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	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102729600-102826800	Weak transcription	HMEC	breast
2	chr9:102767000-102820400	Weak transcription	Colonic Mucosa	Colon
3	chr9:102767200-102821800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:102767600-102826400	Weak transcription	Small Intestine	intestine
5	chr9:102767600-102845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:102767800-102830000	Weak transcription	HSMMtube	muscle
7	chr9:102767800-102835600	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:102771400-102816200	Weak transcription	NH-A	brain
9	chr9:102783800-102819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:102788600-102825600	Weak transcription	A549	lung
11	chr9:102796400-102826000	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:102796400-102828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:102797400-102821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:102797400-102827800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:102800000-102817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:102800000-102819200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:102800000-102820400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:102800000-102828800	Weak transcription	Aorta	Aorta
19	chr9:102800000-102828800	Weak transcription	Gastric	stomach
20	chr9:102800000-102828800	Weak transcription	Pancreas	Pancrea
21	chr9:102800000-102828800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
23	chr9:102800200-102821200	Weak transcription	Ovary	ovary
24	chr9:102800200-102828800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:102800200-102836400	Weak transcription	Fetal Stomach	stomach
26	chr9:102802400-102829000	Weak transcription	Psoas Muscle	Psoas
27	chr9:102804000-102826000	Weak transcription	NHDF-Ad	bronchial
28	chr9:102805400-102844800	Weak transcription	Thymus	Thymus
29	chr9:102806000-102825600	Weak transcription	NHLF	lung
30	chr9:102806400-102823200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:102807400-102844800	Weak transcription	Fetal Brain Male	brain
32	chr9:102807800-102818800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:102808200-102825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:102809600-102825000	Weak transcription	Fetal Kidney	kidney
35	chr9:102809600-102828600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:102809600-102828600	Weak transcription	Brain Substantia Nigra	brain
37	chr9:102809800-102819400	Weak transcription	Fetal Heart	heart
38	chr9:102809800-102845600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:102810000-102839200	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:102810400-102816600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:102810400-102825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:102810800-102816400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:102810800-102845400	Weak transcription	Fetal Brain Female	brain
44	chr9:102811400-102816000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr9:102811600-102825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:102811800-102818800	Weak transcription	Fetal Intestine Small	intestine
47	chr9:102811800-102823400	Weak transcription	Lung	lung
48	chr9:102812400-102817400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:102812600-102826800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:102812800-102816200	Strong transcription	Rectal Mucosa Donor 29	rectum

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