Variant report

Variant	rs4743871
Chromosome Location	chr9:95089643-95089644
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95088180..95090953-chr9:95432488..95434668,3	K562	blood:
2	chr9:95088180..95090953-chr9:95432548..95434668,2	K562	blood:
3	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
4	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
5	chr9:95088163..95089676-chr9:95089853..95092635,2	MCF-7	breast:
6	chr9:95089411..95090139-chr9:95396708..95397599,3	K562	blood:
7	chr9:95088057..95089716-chr9:95480254..95482270,2	MCF-7	breast:
8	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
9	chr9:95088379..95090157-chr9:95102069..95104806,2	K562	blood:
10	chr9:95086363..95089965-chr9:95430183..95433166,4	MCF-7	breast:
11	chr9:94875796..94880000-chr9:95086097..95090720,4	MCF-7	breast:
12	chr9:95067956..95071804-chr9:95086365..95090444,6	K562	blood:
13	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229530	Chromatin interaction
ENSG00000225511	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000090054	Chromatin interaction
ENSG00000239183	Chromatin interaction
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10125510	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1058726	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1058751	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10733744	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10761159	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1144933	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152760	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152761	0.84[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152762	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1175737	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1175923	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1175929	0.82[EUR][1000 genomes]
rs1175930	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11787696	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11789578	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11790257	0.86[ASN][1000 genomes]
rs11791931	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11792542	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11793505	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11794966	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12002188	0.89[AFR][1000 genomes]
rs12555097	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084289	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2295939	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2296665	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs230223	0.90[EUR][1000 genomes]
rs2398749	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2761680	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3894058	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41280213	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41280215	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs472163	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743862	0.86[ASN][1000 genomes]
rs4743864	0.86[ASN][1000 genomes]
rs4743867	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4743868	0.92[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744123	0.86[ASN][1000 genomes]
rs4744124	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744125	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs501814	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs557066	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55894730	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56110031	0.86[ASN][1000 genomes]
rs56308715	0.86[ASN][1000 genomes]
rs56374228	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6479421	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7042199	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7864453	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs895639	0.92[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9409464	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9409465	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9409467	0.92[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9409469	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409470	0.85[ASN][1000 genomes]
rs9409659	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409660	0.92[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409661	0.92[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409662	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9409663	0.81[ASN][1000 genomes]
rs9409665	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409666	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944949	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr9:95088400-95091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:95088600-95091800	Weak transcription	Gastric	stomach
3	chr9:95088600-95096800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:95088600-95100000	Weak transcription	Spleen	Spleen
5	chr9:95088600-95101000	Weak transcription	Aorta	Aorta
6	chr9:95088600-95103600	Weak transcription	Esophagus	oesophagus
7	chr9:95088600-95104000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:95088600-95108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:95088800-95089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:95088800-95089800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr9:95088800-95089800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:95088800-95089800	Enhancers	Placenta	Placenta
13	chr9:95088800-95090000	Flanking Active TSS	Dnd41	blood
14	chr9:95088800-95090400	Flanking Active TSS	NHEK	skin
15	chr9:95088800-95090800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:95088800-95099800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:95088800-95100000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr9:95088800-95100000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:95088800-95100000	Weak transcription	Lung	lung
20	chr9:95088800-95100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:95088800-95100400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:95088800-95100400	Weak transcription	Ovary	ovary
23	chr9:95088800-95102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:95088800-95102600	Weak transcription	Small Intestine	intestine
25	chr9:95088800-95103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:95088800-95103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:95088800-95103800	Weak transcription	Pancreas	Pancrea
28	chr9:95088800-95104000	Weak transcription	Left Ventricle	heart
29	chr9:95088800-95111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:95088800-95111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:95089000-95089800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:95089000-95090000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:95089000-95090200	Weak transcription	Osteobl	bone
34	chr9:95089000-95090400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr9:95089000-95090400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:95089000-95090600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:95089000-95097000	Weak transcription	Psoas Muscle	Psoas
38	chr9:95089000-95099800	Weak transcription	Primary B cells from cord blood	blood
39	chr9:95089000-95100000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:95089000-95100000	Weak transcription	Brain Angular Gyrus	brain
41	chr9:95089000-95100000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:95089000-95101000	Weak transcription	Brain Substantia Nigra	brain
43	chr9:95089000-95101200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:95089000-95101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:95089000-95102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:95089000-95102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:95089000-95103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:95089000-95103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr9:95089000-95104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:95089000-95104000	Weak transcription	HSMMtube	muscle

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