Variant report

Variant	rs56703453
Chromosome Location	chr9:94101347-94101348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94099292..94101832-chr9:94122617..94124149,2	MCF-7	breast:
2	chr9:94099269..94101700-chr9:94165480..94167430,2	K562	blood:
3	chr9:94093775..94096685-chr9:94097839..94101388,3	MCF-7	breast:
4	chr9:94083295..94085381-chr9:94099288..94102033,2	K562	blood:
5	chr9:94093731..94095703-chr9:94099628..94102082,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10991804	0.92[EUR][1000 genomes]
rs10991805	0.92[EUR][1000 genomes]
rs10991806	0.92[EUR][1000 genomes]
rs10991817	1.00[EUR][1000 genomes]
rs10991818	1.00[EUR][1000 genomes]
rs10991822	1.00[EUR][1000 genomes]
rs10991830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907285	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56673856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56878940	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56924073	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57231133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252569	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57417571	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58116121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58154704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58170057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58543156	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59183509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59271728	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59300141	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59555429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59752488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59800170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59849416	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60448531	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61330200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031841	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497200	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503277	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503296	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505203	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505205	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73505206	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7849844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863280	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7870604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
2	chr9:94053400-94103800	Weak transcription	HSMMtube	muscle
3	chr9:94059600-94103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:94059800-94101400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:94065400-94101400	Weak transcription	K562	blood
6	chr9:94065600-94102000	Weak transcription	Hela-S3	cervix
7	chr9:94066400-94103400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:94066800-94104000	Weak transcription	HSMM	muscle
9	chr9:94074600-94103800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:94075800-94104200	Weak transcription	NHEK	skin
11	chr9:94080800-94102400	Weak transcription	Colonic Mucosa	Colon
12	chr9:94082200-94104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:94084400-94104200	Weak transcription	NHDF-Ad	bronchial
14	chr9:94087800-94103600	Weak transcription	A549	lung
15	chr9:94090000-94103400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:94090200-94101400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:94090200-94104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94090200-94106200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:94090400-94101400	Weak transcription	Brain Anterior Caudate	brain
20	chr9:94090400-94101400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:94090400-94103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:94090400-94103400	Weak transcription	Gastric	stomach
23	chr9:94090400-94104000	Weak transcription	NHLF	lung
24	chr9:94090400-94104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:94090400-94104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:94090400-94104200	Weak transcription	Aorta	Aorta
27	chr9:94090400-94104200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:94090400-94104200	Weak transcription	Esophagus	oesophagus
29	chr9:94090600-94103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr9:94090600-94103200	Weak transcription	Fetal Thymus	thymus
31	chr9:94090600-94103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:94090600-94103400	Weak transcription	Spleen	Spleen
33	chr9:94090600-94104000	Weak transcription	Ovary	ovary
34	chr9:94090600-94108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:94090600-94109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:94090800-94101400	Weak transcription	Liver	Liver
37	chr9:94090800-94101400	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:94090800-94101400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:94090800-94101800	Weak transcription	Thymus	Thymus
40	chr9:94090800-94103600	Weak transcription	Brain Substantia Nigra	brain
41	chr9:94091000-94101400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:94091000-94102000	Weak transcription	Fetal Stomach	stomach
43	chr9:94091000-94103000	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:94091800-94103600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:94091800-94103600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:94092000-94104200	Weak transcription	Osteobl	bone
47	chr9:94093000-94101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:94093000-94101400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:94093000-94102000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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