Variant report

Variant	rs3858548
Chromosome Location	chr12:29321611-29321612
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	chr12:29300930..29303778-chr12:29318303..29322829,4	K562	blood:

Variant related genes	Relation type
ENSG00000257258	Chromatin interaction
ENSG00000064763	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10771487	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771488	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771490	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843339	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372303	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372311	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12372469	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496212	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1561131	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865768	0.91[EUR][1000 genomes]
rs1908689	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930855	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4931160	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4931161	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487779	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487781	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487784	0.92[EUR][1000 genomes]
rs6487785	0.91[EUR][1000 genomes]
rs7136626	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297280	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7961901	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7962453	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970668	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7971179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:29316200-29324200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:29316200-29324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
8	chr12:29317000-29324000	Enhancers	Fetal Intestine Small	intestine
9	chr12:29317600-29322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:29317600-29324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:29317600-29324400	Weak transcription	Lung	lung
12	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
13	chr12:29317800-29322200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:29317800-29323000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:29317800-29324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:29317800-29324400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:29317800-29324400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:29317800-29324400	Weak transcription	Fetal Stomach	stomach
19	chr12:29317800-29326800	Weak transcription	Primary T cells from cord blood	blood
20	chr12:29318000-29323000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:29318200-29322600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:29318200-29324200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:29318200-29324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:29318200-29324400	Weak transcription	Dnd41	blood
25	chr12:29318200-29326200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:29318400-29322600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:29318400-29324600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:29318400-29329600	Weak transcription	NHLF	lung
29	chr12:29318800-29324000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:29319000-29322200	Weak transcription	HUVEC	blood vessel
31	chr12:29319000-29322600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:29320200-29322200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:29320200-29324400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:29320600-29322200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:29320800-29322400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:29320800-29322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:29321200-29321800	Enhancers	Small Intestine	intestine
38	chr12:29321200-29322400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:29321200-29325200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:29321400-29323200	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:29321400-29324400	Weak transcription	Colonic Mucosa	Colon
42	chr12:29321600-29321800	Enhancers	Spleen	Spleen

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