Variant report

Variant	rs12442679
Chromosome Location	chr15:49406129-49406130
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	chr15:49404329..49407457-chr15:49414444..49416690,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10431775	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1048975	0.88[ASN][1000 genomes]
rs10775139	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070682	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070683	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11629547	0.81[ASN][1000 genomes]
rs11637991	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12148348	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12440709	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898691	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898709	0.88[AFR][1000 genomes]
rs12902875	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12904344	0.81[AFR][1000 genomes]
rs16962057	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2413928	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2413931	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413935	0.83[ASN][1000 genomes]
rs2580923	0.81[ASN][1000 genomes]
rs2663089	0.81[ASN][1000 genomes]
rs2663090	0.87[ASN][1000 genomes]
rs28505357	0.88[AFR][1000 genomes]
rs28575845	0.88[AFR][1000 genomes]
rs28676698	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28724568	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2899427	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2940745	0.89[ASN][1000 genomes]
rs3098615	0.81[ASN][1000 genomes]
rs3105861	0.81[ASN][1000 genomes]
rs3105863	0.81[ASN][1000 genomes]
rs34854443	0.81[ASN][1000 genomes]
rs490621	0.86[ASN][1000 genomes]
rs563533	0.81[ASN][1000 genomes]
rs600863	0.88[ASN][1000 genomes]
rs603868	0.83[ASN][1000 genomes]
rs62013266	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs671945	0.80[ASN][1000 genomes]
rs679957	0.85[ASN][1000 genomes]
rs7162602	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7179301	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9920070	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386315	chr15:49405660-49407658	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 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	chr15:49388800-49418800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:49388800-49434800	Weak transcription	Small Intestine	intestine
3	chr15:49393600-49413200	Weak transcription	HMEC	breast
4	chr15:49395400-49419000	Weak transcription	Fetal Kidney	kidney
5	chr15:49395600-49426400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:49396000-49419600	Weak transcription	NHEK	skin
7	chr15:49396400-49418800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:49398600-49427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:49399200-49414600	Weak transcription	HUVEC	blood vessel
10	chr15:49402800-49406200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:49402800-49406200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr15:49402800-49407600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:49403000-49417200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:49403000-49434600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:49403200-49408200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:49403200-49413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:49403200-49423400	Weak transcription	Psoas Muscle	Psoas
18	chr15:49403400-49406200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:49403400-49406400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:49403400-49419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:49403400-49440200	Weak transcription	Pancreas	Pancrea
22	chr15:49403600-49406200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:49403600-49411200	Weak transcription	Fetal Intestine Small	intestine
24	chr15:49403600-49423600	Weak transcription	Esophagus	oesophagus
25	chr15:49403600-49432200	Weak transcription	Fetal Stomach	stomach
26	chr15:49403600-49435200	Weak transcription	Aorta	Aorta
27	chr15:49403600-49435200	Weak transcription	Gastric	stomach
28	chr15:49403600-49435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:49403800-49417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:49403800-49419400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:49403800-49433200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:49404000-49406200	ZNF genes & repeats	GM12878-XiMat	blood
33	chr15:49404000-49419800	Weak transcription	NHLF	lung
34	chr15:49404400-49419800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:49404600-49424000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:49404800-49406400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:49404800-49407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:49404800-49407000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:49404800-49407000	Weak transcription	Brain Substantia Nigra	brain
40	chr15:49404800-49415400	Weak transcription	Hela-S3	cervix
41	chr15:49404800-49417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:49404800-49417600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr15:49404800-49419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:49404800-49419000	Weak transcription	Primary T cells from cord blood	blood
45	chr15:49404800-49419000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:49404800-49419200	Weak transcription	Brain Angular Gyrus	brain
47	chr15:49404800-49419400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:49404800-49419400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:49404800-49419400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:49404800-49419600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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