Variant report

Variant	rs7960784
Chromosome Location	chr12:121227182-121227183
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	chr12:121226286..121228196-chr12:121235174..121237034,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027556	0.82[ASN][1000 genomes]
rs1039302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10431387	0.82[ASN][1000 genomes]
rs10437838	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10744754	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10774568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774569	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10774571	0.82[ASN][1000 genomes]
rs10849782	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10849786	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849787	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849788	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849790	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10849793	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849800	0.82[ASN][1000 genomes]
rs11065259	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065272	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11833706	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2393718	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2393725	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213568	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3213571	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4638383	0.83[AFR][1000 genomes]
rs593429	0.83[ASN][1000 genomes]
rs6489780	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6489781	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489782	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7135147	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7135426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs715319	0.82[ASN][1000 genomes]
rs7300695	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73229114	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7965332	0.82[ASN][1000 genomes]
rs7977343	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
3	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121211400-121260800	Weak transcription	Gastric	stomach
5	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
6	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
7	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
8	chr12:121212800-121228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:121221000-121227800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:121221200-121229600	Weak transcription	Osteobl	bone
13	chr12:121221200-121233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:121221200-121233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:121221400-121228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:121221400-121229800	Weak transcription	NHDF-Ad	bronchial
18	chr12:121221400-121230400	Weak transcription	HMEC	breast
19	chr12:121221400-121231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:121221400-121232800	Weak transcription	A549	lung
21	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
22	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:121222000-121227800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:121222000-121229400	Weak transcription	Brain Anterior Caudate	brain
26	chr12:121222000-121233200	Weak transcription	NHEK	skin
27	chr12:121222000-121233800	Weak transcription	Fetal Stomach	stomach
28	chr12:121222200-121227800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:121222200-121228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:121222200-121229400	Weak transcription	HepG2	liver
31	chr12:121222200-121230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:121222200-121231200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:121222200-121231200	Weak transcription	Fetal Brain Female	brain
34	chr12:121222200-121237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:121222200-121274000	Weak transcription	Lung	lung
36	chr12:121222400-121227400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:121222400-121229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:121222400-121231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:121222400-121238800	Weak transcription	Placenta	Placenta
40	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:121222600-121227400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:121222600-121228000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:121222600-121228200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:121222600-121229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:121222600-121229600	Weak transcription	Colonic Mucosa	Colon
46	chr12:121222600-121229600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:121222600-121229800	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:121222600-121230600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:121222600-121231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:121222600-121231200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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