Variant report

Variant	rs12708422
Chromosome Location	chr15:50740184-50740185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50735220..50736969-chr15:50737918..50740333,2	K562	blood:
2	chr15:50733467..50735069-chr15:50739321..50742183,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11855202	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11855465	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11857185	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11857513	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12708423	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12911550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12912813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12916358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17696151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28366846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28377938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391734	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28441244	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28469604	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28495639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28592674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28836609	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28878825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34269292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs531366	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking 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 miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
2	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
4	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
8	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
9	chr15:50723200-50743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:50724600-50755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
12	chr15:50728200-50750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:50730400-50744400	Strong transcription	Fetal Intestine Small	intestine
14	chr15:50730800-50754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:50731000-50740600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50731000-50748800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:50731200-50742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:50731200-50748400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:50731600-50748800	Strong transcription	Fetal Intestine Large	intestine
20	chr15:50732200-50749000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:50732800-50744600	Weak transcription	K562	blood
22	chr15:50733000-50747000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:50733400-50744400	Weak transcription	HSMMtube	muscle
24	chr15:50733400-50744800	Weak transcription	Fetal Kidney	kidney
25	chr15:50733400-50745000	Weak transcription	NHLF	lung
26	chr15:50733400-50747000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:50733400-50747000	Weak transcription	Fetal Lung	lung
28	chr15:50733400-50747000	Weak transcription	Small Intestine	intestine
29	chr15:50733400-50747400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:50733600-50742600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:50733600-50743400	Weak transcription	NHDF-Ad	bronchial
33	chr15:50733600-50758200	Weak transcription	HMEC	breast
34	chr15:50733600-50758800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:50733800-50743000	Weak transcription	A549	lung
36	chr15:50733800-50746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:50733800-50747000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:50733800-50752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:50733800-50755800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:50734000-50741200	Weak transcription	Hela-S3	cervix
41	chr15:50734000-50746400	Weak transcription	Brain Angular Gyrus	brain
42	chr15:50734000-50747000	Weak transcription	Fetal Brain Female	brain
43	chr15:50734000-50763200	Weak transcription	Brain Anterior Caudate	brain
44	chr15:50734000-50776400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
46	chr15:50734600-50752800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:50734600-50772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:50734800-50747200	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:50734800-50748000	Weak transcription	Colonic Mucosa	Colon
50	chr15:50735400-50743800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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