Variant report

Variant	rs11749701
Chromosome Location	chr5:112061448-112061449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112041541..112044063-chr5:112059728..112062226,2	MCF-7	breast:
2	chr5:112060614..112062954-chr5:112069496..112072415,2	K562	blood:
3	chr5:112056525..112058948-chr5:112060901..112062604,2	K562	blood:
4	chr5:112043098..112044806-chr5:112058262..112061694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10051624	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10071425	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10072068	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10073398	0.81[EUR][1000 genomes]
rs10075281	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075323	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075377	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076641	0.84[EUR][1000 genomes]
rs10213844	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10463642	0.86[ASN][1000 genomes]
rs10477483	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241182	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241183	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241184	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11241185	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11749632	0.82[EUR][1000 genomes]
rs11954856	0.82[EUR][1000 genomes]
rs12332692	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12513787	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513804	0.82[EUR][1000 genomes]
rs12518091	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12658609	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659119	0.82[EUR][1000 genomes]
rs13156251	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1441367	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1465910	0.85[EUR][1000 genomes]
rs1530256	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17285505	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1816769	0.80[EUR][1000 genomes]
rs1866924	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1914	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1968557	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974786	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2019720	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2020383	0.81[EUR][1000 genomes]
rs2099810	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2251913	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2253987	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2289484	0.86[EUR][1000 genomes]
rs2431239	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2431241	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2431242	0.80[EUR][1000 genomes]
rs2431512	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2439589	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2464803	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2545158	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2546106	0.84[AMR][1000 genomes]
rs2546107	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2546108	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2546117	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2707763	0.86[EUR][1000 genomes]
rs2707765	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28373740	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28578275	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2901844	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35130225	0.80[EUR][1000 genomes]
rs351772	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35414976	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs390092	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs396321	0.80[EUR][1000 genomes]
rs4099181	0.82[EUR][1000 genomes]
rs414098	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs458906	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs467033	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4705486	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4705559	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4705573	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705608	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705610	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705624	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs511906	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs518013	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs548710	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62364017	0.83[EUR][1000 genomes]
rs6594646	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6862050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6864688	0.92[EUR][1000 genomes]
rs6867243	0.82[EUR][1000 genomes]
rs6879057	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6894351	0.85[EUR][1000 genomes]
rs7704618	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7727738	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs861674	0.86[EUR][1000 genomes]
rs9326862	0.88[EUR][1000 genomes]
rs9326863	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs953916	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9647582	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9647583	0.88[AMR][1000 genomes];0.93[EUR][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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112045600-112063600	Weak transcription	Ovary	ovary
4	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:112047000-112061600	Weak transcription	Aorta	Aorta
6	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
8	chr5:112047600-112061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:112049200-112061600	Weak transcription	Fetal Stomach	stomach
10	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:112054400-112062200	Weak transcription	Right Ventricle	heart
13	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
14	chr5:112055000-112061600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:112056400-112061800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:112056600-112066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:112056600-112067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:112056800-112061800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:112056800-112063800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:112057400-112064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:112058800-112064000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:112059000-112061600	Weak transcription	Psoas Muscle	Psoas
24	chr5:112059200-112067000	Weak transcription	Brain Anterior Caudate	brain
25	chr5:112059200-112067600	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
27	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
28	chr5:112060400-112061800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:112060400-112064800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:112060600-112070000	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:112060800-112061600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112060800-112069200	Weak transcription	Brain Substantia Nigra	brain
33	chr5:112061000-112061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:112061000-112061600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:112061000-112072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:112061000-112073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:112061200-112062400	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr5:112061400-112062000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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