Variant report

Variant	rs7072574
Chromosome Location	chr10:96036306-96036307
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	chr10:96025572..96028379-chr10:96035145..96036744,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11187830	0.96[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12240281	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12258052	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1408820	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17109869	0.96[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1830890	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858610	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969867	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2274225	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35443777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740362	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4918182	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4918184	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4918188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55753709	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61886339	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7072099	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7075045	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7081879	0.83[EUR][1000 genomes]
rs7083628	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription 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	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Vertical cup-disc ratio	25241763	GWAS catalog

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95994600-96045400	Weak transcription	Lung	lung
2	chr10:95995800-96051800	Weak transcription	Fetal Kidney	kidney
3	chr10:96015000-96070200	Weak transcription	Fetal Brain Female	brain
4	chr10:96020800-96039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:96023600-96038400	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr10:96028800-96041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:96030400-96037000	Weak transcription	Gastric	stomach
8	chr10:96031000-96037000	Weak transcription	Colonic Mucosa	Colon
9	chr10:96031600-96039200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:96031800-96038000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:96031800-96048000	Weak transcription	Brain Germinal Matrix	brain
12	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
13	chr10:96032600-96037400	Strong transcription	Fetal Intestine Small	intestine
14	chr10:96032600-96037800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:96034400-96039600	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:96034600-96039800	Weak transcription	Adipose Nuclei	Adipose
17	chr10:96034600-96042000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:96034600-96046200	Weak transcription	Brain Angular Gyrus	brain
19	chr10:96034600-96052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:96034800-96036400	Weak transcription	Placenta	Placenta
21	chr10:96034800-96038800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:96034800-96039600	Weak transcription	Osteobl	bone
23	chr10:96034800-96039800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:96034800-96040600	Weak transcription	A549	lung
25	chr10:96034800-96041400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:96034800-96043600	Weak transcription	Aorta	Aorta
27	chr10:96034800-96043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:96034800-96045800	Weak transcription	HSMM	muscle
29	chr10:96034800-96048600	Weak transcription	Spleen	Spleen
30	chr10:96035000-96036600	Weak transcription	Fetal Intestine Large	intestine
31	chr10:96035000-96039000	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:96035000-96039200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:96035000-96045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:96035200-96037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:96035200-96039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr10:96035200-96046600	Weak transcription	NH-A	brain
37	chr10:96035400-96037600	Strong transcription	Fetal Stomach	stomach
38	chr10:96035400-96039400	Weak transcription	Fetal Heart	heart
39	chr10:96035400-96043800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:96035400-96052400	Weak transcription	Brain Substantia Nigra	brain
41	chr10:96035600-96036600	Weak transcription	Right Atrium	heart
42	chr10:96035600-96047400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr10:96035600-96052400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr10:96035600-96066800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:96035800-96037400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:96035800-96046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:96036000-96036600	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:96036000-96036600	Weak transcription	Pancreas	Pancrea
49	chr10:96036000-96037400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:96036000-96039800	Weak transcription	Liver	Liver

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