Variant report

Variant	rs12664421
Chromosome Location	chr6:144695904-144695905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12662904	0.92[ASN][1000 genomes]
rs12663172	0.85[ASN][1000 genomes]
rs12663605	0.87[ASN][1000 genomes]
rs12665269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58104509	0.98[EUR][1000 genomes]
rs58108287	0.98[EUR][1000 genomes]
rs59862970	0.98[EUR][1000 genomes]
rs60234245	0.92[ASN][1000 genomes]
rs6570623	0.98[EUR][1000 genomes]
rs6903993	0.89[AFR][1000 genomes]
rs6917034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73594936	0.93[AFR][1000 genomes]
rs73594937	0.93[AFR][1000 genomes]
rs73594958	0.98[EUR][1000 genomes]
rs73594960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73594967	0.98[EUR][1000 genomes]
rs73780544	0.93[AFR][1000 genomes]
rs7743190	0.93[AFR][1000 genomes]
rs7745285	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7761280	0.93[AFR][1000 genomes]
rs7765364	0.98[EUR][1000 genomes]
rs7770411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496950	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144665400-144696400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
3	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
4	chr6:144682000-144698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:144682600-144696600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:144683600-144699600	Weak transcription	Ovary	ovary
7	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
8	chr6:144684000-144698200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:144684000-144698200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:144684600-144696400	Weak transcription	Fetal Kidney	kidney
11	chr6:144684800-144699200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:144686200-144696200	Weak transcription	Fetal Heart	heart
13	chr6:144686200-144696800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:144686200-144696800	Weak transcription	Pancreas	Pancrea
15	chr6:144686200-144696800	Weak transcription	Psoas Muscle	Psoas
16	chr6:144686200-144696800	Weak transcription	Spleen	Spleen
17	chr6:144686400-144698200	Weak transcription	HSMM	muscle
18	chr6:144686600-144696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:144686600-144699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:144686800-144696400	Weak transcription	HUVEC	blood vessel
22	chr6:144687000-144698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:144688000-144698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:144688000-144698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:144688200-144696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:144688200-144698600	Weak transcription	Adipose Nuclei	Adipose
27	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:144691600-144696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:144691600-144696600	Weak transcription	Right Ventricle	heart
30	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
31	chr6:144691800-144696200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:144692000-144696800	Weak transcription	Left Ventricle	heart
33	chr6:144692200-144696000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:144692200-144696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:144692200-144696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:144692200-144696400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:144692200-144696800	Weak transcription	Gastric	stomach
38	chr6:144692200-144696800	Weak transcription	Lung	lung
39	chr6:144692200-144697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:144692200-144698200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:144692200-144698200	Weak transcription	Primary T cells from cord blood	blood
42	chr6:144692200-144698200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:144692200-144698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:144692200-144698600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:144692200-144698600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:144692400-144696200	Weak transcription	HepG2	liver
48	chr6:144692400-144696400	Weak transcription	Dnd41	blood
49	chr6:144692400-144696600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:144692400-144696800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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