Variant report

Variant	rs12254730
Chromosome Location	chr10:96051076-96051077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95579387..95581432-chr10:96050777..96053319,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11187855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187896	1.00[EUR][1000 genomes]
rs12243492	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12249709	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250011	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254178	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269029	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs61751499	1.00[EUR][1000 genomes]
rs6583938	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092351	1.00[EUR][1000 genomes]
rs73319896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319898	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321857	1.00[EUR][1000 genomes]
rs7907525	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95995800-96051800	Weak transcription	Fetal Kidney	kidney
2	chr10:96015000-96070200	Weak transcription	Fetal Brain Female	brain
3	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
4	chr10:96034600-96052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:96035400-96052400	Weak transcription	Brain Substantia Nigra	brain
6	chr10:96035600-96052400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:96035600-96066800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
9	chr10:96036200-96052000	Weak transcription	Fetal Lung	lung
10	chr10:96037800-96069000	Weak transcription	Gastric	stomach
11	chr10:96039600-96051200	Strong transcription	Fetal Intestine Large	intestine
12	chr10:96040000-96052200	Weak transcription	Adipose Nuclei	Adipose
13	chr10:96040000-96052200	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:96040200-96066200	Weak transcription	Pancreas	Pancrea
15	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
16	chr10:96044600-96052200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:96045000-96051400	Strong transcription	Fetal Stomach	stomach
18	chr10:96045600-96052000	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:96045600-96058200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:96045800-96061800	Weak transcription	Colonic Mucosa	Colon
21	chr10:96046200-96052200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:96046200-96066200	Weak transcription	Right Atrium	heart
23	chr10:96046600-96052400	Weak transcription	A549	lung
24	chr10:96046800-96052000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:96046800-96052000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:96046800-96052200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:96047400-96052400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:96047400-96052400	Weak transcription	HUVEC	blood vessel
29	chr10:96047400-96060800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:96047800-96051600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr10:96047800-96051600	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:96047800-96052000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:96047800-96052200	Weak transcription	NH-A	brain
34	chr10:96047800-96052200	Weak transcription	Osteobl	bone
35	chr10:96047800-96068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:96048200-96052000	Weak transcription	HSMM	muscle
37	chr10:96048200-96052000	Weak transcription	HSMMtube	muscle
38	chr10:96048400-96051400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:96048600-96051800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:96048800-96052400	Weak transcription	Brain Anterior Caudate	brain
41	chr10:96048800-96074800	Weak transcription	Placenta	Placenta
42	chr10:96049000-96058200	Weak transcription	Aorta	Aorta
43	chr10:96049200-96051600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:96049200-96051800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:96049400-96052400	Weak transcription	Fetal Brain Male	brain
46	chr10:96049400-96052400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:96049400-96058000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr10:96049400-96081600	Weak transcription	Spleen	Spleen
49	chr10:96049600-96058200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:96050000-96052000	Weak transcription	Ovary	ovary

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