Variant report

Variant	rs12403130
Chromosome Location	chr1:10592231-10592232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10592213-10592362	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:10591577..10594181-chr1:10600029..10602001,2	K562	blood:
2	chr1:10591516..10593262-chr1:10606474..10609056,2	K562	blood:
3	chr1:10585162..10588309-chr1:10589608..10593566,5	K562	blood:
4	chr1:10577532..10580475-chr1:10590665..10593408,2	K562	blood:

Variant related genes	Relation type
PEX14	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10864461	0.84[EUR][1000 genomes]
rs11121596	0.80[EUR][1000 genomes]
rs11121597	0.80[EUR][1000 genomes]
rs12033275	0.80[EUR][1000 genomes]
rs12129678	0.80[EUR][1000 genomes]
rs17035156	0.82[EUR][1000 genomes]
rs2183377	0.81[EUR][1000 genomes]
rs2480780	0.84[EUR][1000 genomes]
rs2483678	0.82[EUR][1000 genomes]
rs2506879	0.80[CEU][hapmap]
rs2506884	0.82[EUR][1000 genomes]
rs2506886	0.82[EUR][1000 genomes]
rs2506887	0.82[EUR][1000 genomes]
rs4240914	0.84[EUR][1000 genomes]
rs58788814	0.80[EUR][1000 genomes]
rs61192982	0.89[EUR][1000 genomes]
rs6681221	0.84[EUR][1000 genomes]
rs7512467	0.80[EUR][1000 genomes]
rs7522072	0.82[EUR][1000 genomes]
rs7545184	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:10573400-10596000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:10576400-10596000	Weak transcription	Dnd41	blood
5	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:10577400-10596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:10579600-10596200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:10580800-10596000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:10580800-10596200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:10582600-10595800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:10582600-10596200	Weak transcription	Thymus	Thymus
13	chr1:10583000-10595800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:10584400-10596000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:10584600-10594200	Weak transcription	K562	blood
16	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:10586200-10595600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:10588000-10592400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:10588000-10592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:10588000-10593000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:10588400-10596200	Weak transcription	Lung	lung
24	chr1:10588400-10598200	Weak transcription	Pancreas	Pancrea
25	chr1:10588600-10596400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:10588800-10596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:10588800-10599200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:10589000-10596400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:10589000-10600000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:10589200-10598600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:10589400-10595600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:10589400-10596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:10589400-10596200	Weak transcription	Esophagus	oesophagus
34	chr1:10589400-10596400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
36	chr1:10589600-10592600	Enhancers	Fetal Lung	lung
37	chr1:10589600-10596000	Weak transcription	Primary T cells from cord blood	blood
38	chr1:10590200-10595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:10590200-10595800	Weak transcription	HepG2	liver
40	chr1:10590200-10596200	Weak transcription	Fetal Intestine Large	intestine
41	chr1:10590200-10596400	Weak transcription	Gastric	stomach
42	chr1:10590200-10597200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:10590200-10602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:10590200-10605200	Weak transcription	NHDF-Ad	bronchial
45	chr1:10590400-10593000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:10590600-10596000	Weak transcription	NHEK	skin
47	chr1:10590600-10599400	Weak transcription	GM12878-XiMat	blood
48	chr1:10590800-10592600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:10590800-10592800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:10590800-10593000	Enhancers	H1 Cell Line	embryonic stem cell

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