Variant report

Variant	rs10041470
Chromosome Location	chr5:74749639-74749640
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74748747..74750601-chr5:74806790..74808643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122008	Chromatin interaction
ENSG00000113163	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10036682	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10038945	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10055011	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10059022	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10061689	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10067900	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10074747	0.88[EUR][1000 genomes]
rs10076819	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10077427	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10078671	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10474437	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12173076	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13360099	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13361353	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1469051	0.85[EUR][1000 genomes]
rs1553234	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820049	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1909719	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287710	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28408106	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28612248	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28668361	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28874007	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3804231	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703671	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4703675	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4704213	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704229	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56859362	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5744544	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744545	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744636	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5744667	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5744704	0.93[EUR][1000 genomes]
rs5744709	0.92[EUR][1000 genomes]
rs5744712	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57907925	0.89[EUR][1000 genomes]
rs58519566	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58841453	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61303403	0.81[EUR][1000 genomes]
rs6891560	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633963	0.85[EUR][1000 genomes]
rs72633964	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72633965	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72633966	0.89[EUR][1000 genomes]
rs72633967	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72633968	0.90[EUR][1000 genomes]
rs72633969	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633970	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633971	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633972	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72633973	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72633974	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72633975	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72633976	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72633977	0.81[EUR][1000 genomes]
rs7356633	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7726478	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904743	0.89[EUR][1000 genomes]
rs9293652	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9293654	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9293655	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs979182	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74709600-74760200	Weak transcription	Gastric	stomach
4	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:74722200-74749800	Weak transcription	Liver	Liver
6	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:74737600-74749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
13	chr5:74739600-74756200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:74741200-74760200	Weak transcription	Left Ventricle	heart
16	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:74742600-74764200	Weak transcription	HSMM	muscle
18	chr5:74743000-74749800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:74743000-74749800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:74743000-74750000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:74743000-74750200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:74743000-74752600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74743000-74754800	Weak transcription	Fetal Lung	lung
24	chr5:74743000-74757000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:74743000-74760000	Weak transcription	Lung	lung
26	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:74743200-74749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:74743200-74749800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:74743200-74750400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:74743200-74752600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:74743200-74753600	Weak transcription	Dnd41	blood
35	chr5:74743200-74754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:74743200-74756200	Weak transcription	A549	lung
37	chr5:74743200-74758000	Weak transcription	Fetal Stomach	stomach
38	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
39	chr5:74743600-74755400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:74743800-74750400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:74743800-74753600	Weak transcription	Fetal Intestine Large	intestine
42	chr5:74743800-74754800	Weak transcription	Ovary	ovary
43	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
44	chr5:74743800-74761400	Weak transcription	Thymus	Thymus
45	chr5:74743800-74761800	Weak transcription	K562	blood
46	chr5:74744000-74759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:74744600-74756200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:74745200-74753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:74745600-74750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:74745800-74749800	Weak transcription	Primary hematopoietic stem cells	blood

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