Variant report

Variant	rs7307711
Chromosome Location	chr12:106906420-106906421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10444532	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10778468	0.82[AMR][1000 genomes]
rs10778469	0.85[AMR][1000 genomes]
rs10778471	0.82[AMR][1000 genomes]
rs10778473	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10778474	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10778476	0.88[AMR][1000 genomes]
rs10778485	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861601	0.82[AMR][1000 genomes]
rs10861608	0.84[AMR][1000 genomes]
rs10861614	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112979	0.82[AMR][1000 genomes]
rs11112980	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11112993	0.82[AMR][1000 genomes]
rs11113009	0.88[AMR][1000 genomes]
rs11113011	0.97[ASN][1000 genomes]
rs11113024	0.97[ASN][1000 genomes]
rs11609315	0.81[AMR][1000 genomes]
rs11611176	0.81[AMR][1000 genomes]
rs12305705	0.82[AMR][1000 genomes]
rs12312915	0.82[AMR][1000 genomes]
rs12423068	0.85[AMR][1000 genomes]
rs12425459	0.88[AMR][1000 genomes]
rs17221107	0.86[ASN][1000 genomes]
rs2141774	0.82[AMR][1000 genomes]
rs2288268	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475238	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2900499	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2900500	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3851631	0.80[AMR][1000 genomes]
rs3851632	0.81[AMR][1000 genomes]
rs4522273	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625578	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55678155	0.83[AMR][1000 genomes]
rs61941917	0.80[AMR][1000 genomes]
rs61941918	0.81[AMR][1000 genomes]
rs61941920	0.86[AMR][1000 genomes]
rs61941944	0.85[AMR][1000 genomes]
rs7139139	0.82[AMR][1000 genomes]
rs7296090	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309020	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7971581	0.88[AMR][1000 genomes];0.81[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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106886200-106916400	Weak transcription	A549	lung
2	chr12:106887600-106907800	Weak transcription	Small Intestine	intestine
3	chr12:106888200-106906800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:106892000-106907800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:106894400-106916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:106894600-106913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:106896400-106906600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:106896400-106906800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:106896400-106907200	Weak transcription	Esophagus	oesophagus
10	chr12:106896400-106908400	Weak transcription	NHLF	lung
11	chr12:106896400-106916800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:106898200-106907600	Weak transcription	K562	blood
13	chr12:106898600-106906600	Weak transcription	Fetal Brain Female	brain
14	chr12:106898600-106906800	Weak transcription	Osteobl	bone
15	chr12:106898600-106916000	Weak transcription	HepG2	liver
16	chr12:106898800-106913200	Weak transcription	Fetal Lung	lung
17	chr12:106899000-106907000	Weak transcription	Gastric	stomach
18	chr12:106899200-106907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:106899600-106911000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:106900800-106907000	Weak transcription	Lung	lung
21	chr12:106900800-106908000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:106900800-106908600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:106900800-106908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:106901000-106906800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:106901000-106913200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:106901600-106906600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:106901600-106908000	Weak transcription	Hela-S3	cervix
28	chr12:106901600-106909200	Weak transcription	Fetal Kidney	kidney
29	chr12:106903600-106906800	Weak transcription	Dnd41	blood
30	chr12:106903800-106906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:106903800-106907000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:106903800-106907800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:106903800-106908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:106904000-106906600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:106904000-106906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:106904000-106907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:106904000-106908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:106904200-106906600	Weak transcription	Aorta	Aorta
39	chr12:106904200-106908000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:106904400-106907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:106904600-106906800	Weak transcription	Liver	Liver
42	chr12:106904600-106906800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:106904600-106908600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:106904600-106908800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:106904800-106906600	Weak transcription	Left Ventricle	heart
46	chr12:106904800-106907000	Weak transcription	Right Ventricle	heart
47	chr12:106904800-106912800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:106905200-106907600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:106905400-106906800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:106905400-106908400	Weak transcription	Pancreas	Pancrea

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