Variant report

Variant	rs12783744
Chromosome Location	chr10:96044149-96044150
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	chr10:96042514..96045602-chr10:96046658..96049792,3	K562	blood:

Variant related genes	Relation type
ENSG00000268894	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11814451	1.00[ASN][1000 genomes]
rs11817642	1.00[ASN][1000 genomes]
rs12255683	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766693	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12773803	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774398	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778016	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12780240	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781422	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12781481	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781628	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782263	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438643	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438706	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439123	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516758	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517368	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517515	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517578	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517669	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3203713	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34032820	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34156870	1.00[ASN][1000 genomes]
rs34573359	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34818536	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34999028	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35058175	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084709	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247409	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258481	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35348430	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35446195	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35658839	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4394764	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178050	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71480900	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482303	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482304	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482305	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482306	1.00[ASN][1000 genomes]
rs72812701	1.00[ASN][1000 genomes]
rs7914997	0.84[AMR][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:56 , 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	chr10:96031800-96048000	Weak transcription	Brain Germinal Matrix	brain
5	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
6	chr10:96034600-96046200	Weak transcription	Brain Angular Gyrus	brain
7	chr10:96034600-96052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:96034800-96045800	Weak transcription	HSMM	muscle
9	chr10:96034800-96048600	Weak transcription	Spleen	Spleen
10	chr10:96035000-96045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:96035200-96046600	Weak transcription	NH-A	brain
12	chr10:96035400-96052400	Weak transcription	Brain Substantia Nigra	brain
13	chr10:96035600-96047400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr10:96035600-96052400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:96035600-96066800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:96035800-96046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
18	chr10:96036200-96052000	Weak transcription	Fetal Lung	lung
19	chr10:96037400-96045200	Weak transcription	Fetal Intestine Small	intestine
20	chr10:96037400-96046000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:96037800-96047200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:96037800-96069000	Weak transcription	Gastric	stomach
23	chr10:96038800-96049400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr10:96039200-96046400	Strong transcription	Fetal Muscle Leg	muscle
25	chr10:96039600-96051200	Strong transcription	Fetal Intestine Large	intestine
26	chr10:96040000-96046400	Weak transcription	Osteobl	bone
27	chr10:96040000-96047200	Weak transcription	Fetal Heart	heart
28	chr10:96040000-96052200	Weak transcription	Adipose Nuclei	Adipose
29	chr10:96040000-96052200	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:96040200-96066200	Weak transcription	Pancreas	Pancrea
31	chr10:96040400-96046400	Weak transcription	NHLF	lung
32	chr10:96040400-96048200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:96040400-96048400	Weak transcription	Brain Anterior Caudate	brain
34	chr10:96040600-96046600	Strong transcription	A549	lung
35	chr10:96041200-96046200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr10:96041400-96044400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr10:96041600-96045200	Weak transcription	HSMMtube	muscle
38	chr10:96041800-96046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:96042600-96046600	Weak transcription	HUVEC	blood vessel
40	chr10:96042800-96046400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr10:96043400-96046400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:96043600-96044200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:96043600-96045800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:96043600-96046000	Strong transcription	Aorta	Aorta
45	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
46	chr10:96043800-96044200	Strong transcription	Colonic Mucosa	Colon
47	chr10:96043800-96044400	Strong transcription	Fetal Stomach	stomach
48	chr10:96043800-96044600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:96043800-96044600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:96043800-96045800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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