Variant report

Variant	rs10774568
Chromosome Location	chr12:121239696-121239697
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	chr12:121239385..121241045-chr12:121266410..121269390,2	K562	blood:
2	chr12:121238531..121240722-chr12:121246425..121248105,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1027556	0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1039302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10437838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];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];0.97[ASN][1000 genomes]
rs10774569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10774571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10849782	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10849786	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849787	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10849788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];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];0.97[ASN][1000 genomes]
rs10849793	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849800	0.84[ASN][1000 genomes]
rs10849810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10849811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs11065259	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065272	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065298	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap]
rs11065322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1151849	0.82[YRI][hapmap]
rs1151862	0.81[YRI][hapmap]
rs11829904	0.80[YRI][hapmap]
rs11833706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2393718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2393725	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3809314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4638383	0.84[AFR][1000 genomes]
rs471688	0.84[YRI][hapmap]
rs508595	0.82[YRI][hapmap]
rs531782	0.89[YRI][hapmap]
rs593429	0.85[ASN][1000 genomes]
rs610694	0.83[YRI][hapmap]
rs624216	0.81[YRI][hapmap]
rs625228	0.89[YRI][hapmap]
rs6489780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6489781	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6489782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs715319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7298639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs7300695	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73229114	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7960784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7977343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv1801139	chr12:121228410-121241933	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:121222200-121274000	Weak transcription	Lung	lung
6	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:121222600-121259000	Weak transcription	Ovary	ovary
9	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
10	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
11	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:121222800-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:121222800-121245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121222800-121249400	Weak transcription	HSMM	muscle
15	chr12:121229000-121245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:121234000-121240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:121234000-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:121234000-121240800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:121234200-121246000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:121234200-121246000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:121234200-121246600	Weak transcription	Fetal Stomach	stomach
24	chr12:121234200-121246800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:121234600-121245800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:121234600-121246000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:121234600-121247200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:121234600-121250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:121234600-121263000	Weak transcription	A549	lung
30	chr12:121234800-121245400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:121234800-121246200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:121234800-121246600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:121234800-121246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:121234800-121250600	Weak transcription	Fetal Brain Female	brain
35	chr12:121235000-121242200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:121235000-121246000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:121235000-121249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121235200-121245200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:121236800-121239800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:121236800-121246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:121236800-121247000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:121237000-121240200	Enhancers	HepG2	liver
44	chr12:121237000-121255400	Weak transcription	Fetal Heart	heart
45	chr12:121237400-121240600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:121237400-121240600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:121237400-121249000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:121237600-121245800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:121237600-121246400	Weak transcription	Dnd41	blood
50	chr12:121237600-121247000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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