Variant report

Variant	rs12243849
Chromosome Location	chr10:96045514-96045515
allele	C/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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11187855	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11187887	0.84[YRI][hapmap]
rs11187898	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11187954	1.00[AMR][1000 genomes]
rs12243492	0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249578	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12249709	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12250011	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12250480	1.00[AMR][1000 genomes]
rs12254178	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12256637	1.00[AMR][1000 genomes]
rs12259382	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12259622	0.91[YRI][hapmap]
rs12266908	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269029	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244404	1.00[AMR][1000 genomes]
rs57412910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60996053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6583938	0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7067896	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7081603	1.00[AMR][1000 genomes]
rs7082254	1.00[AMR][1000 genomes]
rs73321857	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323523	1.00[AMR][1000 genomes]
rs73323528	1.00[AMR][1000 genomes]
rs73327452	1.00[AMR][1000 genomes]
rs73327462	1.00[AMR][1000 genomes]
rs73327472	1.00[AMR][1000 genomes]
rs73327486	1.00[AMR][1000 genomes]
rs73327491	1.00[AMR][1000 genomes]
rs73327495	1.00[AMR][1000 genomes]
rs7902189	0.85[YRI][hapmap]
rs7907525	0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9665608	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[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:57 , 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	chr10:96031800-96048000	Weak transcription	Brain Germinal Matrix	brain
4	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
5	chr10:96034600-96046200	Weak transcription	Brain Angular Gyrus	brain
6	chr10:96034600-96052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:96034800-96045800	Weak transcription	HSMM	muscle
8	chr10:96034800-96048600	Weak transcription	Spleen	Spleen
9	chr10:96035200-96046600	Weak transcription	NH-A	brain
10	chr10:96035400-96052400	Weak transcription	Brain Substantia Nigra	brain
11	chr10:96035600-96047400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr10:96035600-96052400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:96035600-96066800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:96035800-96046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
16	chr10:96036200-96052000	Weak transcription	Fetal Lung	lung
17	chr10:96037400-96046000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:96037800-96047200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:96037800-96069000	Weak transcription	Gastric	stomach
20	chr10:96038800-96049400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr10:96039200-96046400	Strong transcription	Fetal Muscle Leg	muscle
22	chr10:96039600-96051200	Strong transcription	Fetal Intestine Large	intestine
23	chr10:96040000-96046400	Weak transcription	Osteobl	bone
24	chr10:96040000-96047200	Weak transcription	Fetal Heart	heart
25	chr10:96040000-96052200	Weak transcription	Adipose Nuclei	Adipose
26	chr10:96040000-96052200	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:96040200-96066200	Weak transcription	Pancreas	Pancrea
28	chr10:96040400-96046400	Weak transcription	NHLF	lung
29	chr10:96040400-96048200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:96040400-96048400	Weak transcription	Brain Anterior Caudate	brain
31	chr10:96040600-96046600	Strong transcription	A549	lung
32	chr10:96041200-96046200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr10:96041800-96046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:96042600-96046600	Weak transcription	HUVEC	blood vessel
35	chr10:96042800-96046400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:96043400-96046400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr10:96043600-96045800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:96043600-96046000	Strong transcription	Aorta	Aorta
39	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
40	chr10:96043800-96045800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:96043800-96045800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr10:96044000-96045600	Strong transcription	Colon Smooth Muscle	Colon
43	chr10:96044000-96046600	Weak transcription	Ovary	ovary
44	chr10:96044200-96046200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:96044600-96045600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:96044600-96052200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:96045000-96045600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr10:96045000-96045800	Strong transcription	Colonic Mucosa	Colon
49	chr10:96045000-96051400	Strong transcription	Fetal Stomach	stomach
50	chr10:96045200-96046200	Strong transcription	Rectal Smooth Muscle	rectum

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