Variant report

Variant	rs56150121
Chromosome Location	chr8:52745533-52745534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52742960..52745763-chr8:52747652..52749930,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10104555	0.80[EUR][1000 genomes]
rs10106132	0.87[EUR][1000 genomes]
rs10106734	0.93[EUR][1000 genomes]
rs10111727	0.80[EUR][1000 genomes]
rs11984688	0.80[EUR][1000 genomes]
rs11990932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11992330	0.93[EUR][1000 genomes]
rs16916958	0.80[EUR][1000 genomes]
rs4242473	0.87[EUR][1000 genomes]
rs4242477	0.87[EUR][1000 genomes]
rs4242478	1.00[EUR][1000 genomes]
rs4257997	0.87[EUR][1000 genomes]
rs4305894	1.00[EUR][1000 genomes]
rs4418330	1.00[EUR][1000 genomes]
rs4500071	1.00[EUR][1000 genomes]
rs4518654	1.00[EUR][1000 genomes]
rs4873599	0.87[EUR][1000 genomes]
rs4873600	1.00[EUR][1000 genomes]
rs4873601	1.00[EUR][1000 genomes]
rs4873605	1.00[EUR][1000 genomes]
rs4873612	0.93[EUR][1000 genomes]
rs55730191	0.80[EUR][1000 genomes]
rs55791360	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56034922	0.80[EUR][1000 genomes]
rs56105709	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56109937	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6473659	0.87[EUR][1000 genomes]
rs6473663	0.86[EUR][1000 genomes]
rs6997032	0.87[EUR][1000 genomes]
rs6997972	0.93[EUR][1000 genomes]
rs7000570	1.00[EUR][1000 genomes]
rs73583635	0.80[EUR][1000 genomes]
rs73583640	0.80[EUR][1000 genomes]
rs73588487	0.80[EUR][1000 genomes]
rs73592250	0.80[EUR][1000 genomes]
rs7820936	1.00[EUR][1000 genomes]
rs7845506	0.80[EUR][1000 genomes]
rs9643787	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52722000-52771400	Weak transcription	Gastric	stomach
2	chr8:52722200-52752000	Weak transcription	Pancreas	Pancrea
3	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:52731200-52763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:52731400-52753400	Weak transcription	NHDF-Ad	bronchial
8	chr8:52731800-52745600	Weak transcription	NHEK	skin
9	chr8:52732200-52746000	Weak transcription	Fetal Brain Male	brain
10	chr8:52732200-52746400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:52732800-52753600	Weak transcription	Osteobl	bone
12	chr8:52733200-52758800	Weak transcription	Small Intestine	intestine
13	chr8:52733200-52763600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:52733400-52757200	Weak transcription	Colonic Mucosa	Colon
16	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
17	chr8:52734200-52761600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:52735400-52753400	Weak transcription	HUVEC	blood vessel
19	chr8:52735600-52753800	Weak transcription	HSMM	muscle
20	chr8:52735600-52763600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
22	chr8:52735800-52753600	Weak transcription	Hela-S3	cervix
23	chr8:52735800-52763400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:52736000-52753600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:52736000-52753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:52736200-52753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:52737200-52760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:52737600-52753600	Weak transcription	NH-A	brain
29	chr8:52738200-52752000	Weak transcription	Right Atrium	heart
30	chr8:52738200-52753600	Weak transcription	A549	lung
31	chr8:52738400-52746200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:52738800-52746000	Strong transcription	Primary B cells from cord blood	blood
33	chr8:52738800-52746200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:52738800-52746200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:52738800-52746200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:52739000-52746000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:52739400-52746200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:52739600-52746000	Strong transcription	Liver	Liver
39	chr8:52739800-52747000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:52739800-52765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:52739800-52782600	Weak transcription	K562	blood
42	chr8:52740000-52746000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:52740200-52753400	Weak transcription	HMEC	breast
44	chr8:52740600-52746000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:52740600-52753600	Weak transcription	Stomach Mucosa	stomach
46	chr8:52741000-52746000	Strong transcription	Fetal Intestine Large	intestine
47	chr8:52741000-52746000	Strong transcription	Dnd41	blood
48	chr8:52741000-52746200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:52741000-52746800	Strong transcription	Fetal Thymus	thymus
50	chr8:52741200-52745600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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