Variant report

Variant	rs1008138
Chromosome Location	chr9:116809470-116809471
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116808442..116810806-chr9:116812580..116815116,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10739398	0.85[CHB][hapmap]
rs10759676	0.82[CHB][hapmap]
rs10817555	0.83[CHB][hapmap]
rs10817558	0.81[ASN][1000 genomes]
rs10982029	0.83[CHB][hapmap]
rs10982031	0.86[CHB][hapmap]
rs10982042	0.91[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs11788633	0.82[CHB][hapmap]
rs11788661	0.82[CHB][hapmap]
rs11790678	0.81[ASN][1000 genomes]
rs11791230	0.87[CHB][hapmap]
rs12551686	0.83[CHB][hapmap]
rs12686226	0.95[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs12686727	0.83[CHB][hapmap]
rs13298270	0.82[CHB][hapmap]
rs13299092	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1408115	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1590367	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1965753	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2078305	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2116407	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2418263	0.81[CHB][hapmap]
rs35841848	0.81[ASN][1000 genomes]
rs3748183	0.83[CHB][hapmap]
rs3860174	0.91[CHB][hapmap]
rs4978562	0.82[CHB][hapmap]
rs4979316	0.81[CHB][hapmap]
rs4979319	0.90[CHB][hapmap]
rs4979320	0.82[CHB][hapmap]
rs4979321	0.82[CHB][hapmap]
rs4979322	0.83[CHB][hapmap]
rs4979323	0.86[CHB][hapmap]
rs4979324	0.87[CHB][hapmap]
rs4979326	0.82[CHB][hapmap]
rs4979327	0.82[CHB][hapmap]
rs4979331	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs7020561	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs7023499	0.82[CHB][hapmap]
rs7026668	0.87[CHB][hapmap]
rs7035891	0.98[ASN][1000 genomes]
rs7041487	0.87[CHB][hapmap]
rs7041524	0.82[CHB][hapmap]
rs7042021	0.87[CHB][hapmap]
rs7850217	0.81[CHB][hapmap]
rs7858120	0.82[CHB][hapmap]
rs942287	0.81[CHB][hapmap]

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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:116785200-116811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:116785400-116810600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116787000-116812800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:116792200-116810400	Weak transcription	Thymus	Thymus
6	chr9:116793200-116811200	Weak transcription	Stomach Mucosa	stomach
7	chr9:116793200-116812200	Weak transcription	K562	blood
8	chr9:116793200-116813800	Weak transcription	NHEK	skin
9	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
10	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
11	chr9:116799000-116811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:116799200-116811200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:116799400-116810600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr9:116799400-116810800	Weak transcription	Colonic Mucosa	Colon
15	chr9:116799600-116810200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:116799800-116810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:116799800-116810200	Weak transcription	HSMMtube	muscle
18	chr9:116799800-116810600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:116800000-116810200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:116800000-116810200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:116800000-116810800	Weak transcription	Brain Angular Gyrus	brain
22	chr9:116800000-116811200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:116800000-116811200	Weak transcription	Brain Substantia Nigra	brain
24	chr9:116800000-116811200	Weak transcription	Right Ventricle	heart
25	chr9:116800400-116810800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:116800600-116809800	Weak transcription	NHLF	lung
27	chr9:116800800-116810600	Weak transcription	Brain Anterior Caudate	brain
28	chr9:116800800-116811000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:116800800-116811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:116801000-116809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:116801000-116810000	Weak transcription	Aorta	Aorta
32	chr9:116801000-116810000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:116801000-116810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:116801000-116810400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:116801000-116810400	Weak transcription	Fetal Brain Female	brain
36	chr9:116801000-116810600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:116801000-116811200	Weak transcription	Left Ventricle	heart
38	chr9:116801000-116812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:116801200-116810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:116801200-116810400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:116801200-116810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:116801200-116810800	Weak transcription	Brain Hippocampus Middle	brain
43	chr9:116801400-116809800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:116801400-116810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:116801400-116810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:116801400-116811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:116801600-116809800	Weak transcription	Pancreas	Pancrea
48	chr9:116801600-116810200	Weak transcription	Fetal Intestine Large	intestine
49	chr9:116801600-116810200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr9:116801600-116810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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