Variant report

Variant	rs11050088
Chromosome Location	chr12:29318500-29318501
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10492385	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771493	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050079	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050117	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050124	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050132	0.91[EUR][1000 genomes]
rs12371983	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2196488	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4414260	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931157	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4931166	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487782	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7296314	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7301408	0.92[EUR][1000 genomes]
rs7969731	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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:54 , 50 per page) page: 1 2

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	chr12:29313400-29319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:29315800-29320200	Enhancers	Small Intestine	intestine
7	chr12:29316200-29324200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:29316200-29324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:29316800-29318800	Enhancers	Colon Smooth Muscle	Colon
10	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
11	chr12:29317000-29319000	Enhancers	HUVEC	blood vessel
12	chr12:29317000-29320800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:29317000-29324000	Enhancers	Fetal Intestine Small	intestine
14	chr12:29317200-29318600	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:29317200-29318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:29317200-29318800	Enhancers	Stomach Mucosa	stomach
17	chr12:29317200-29319000	Enhancers	Primary B cells from cord blood	blood
18	chr12:29317400-29318600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:29317400-29318800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:29317400-29319000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:29317600-29318800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:29317600-29322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:29317600-29324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29317600-29324400	Weak transcription	Lung	lung
25	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
26	chr12:29317800-29318800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:29317800-29321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:29317800-29321600	Weak transcription	Spleen	Spleen
29	chr12:29317800-29322200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:29317800-29323000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:29317800-29324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:29317800-29324400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:29317800-29324400	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:29317800-29324400	Weak transcription	Fetal Stomach	stomach
35	chr12:29317800-29326800	Weak transcription	Primary T cells from cord blood	blood
36	chr12:29318000-29319000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:29318000-29323000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:29318200-29319400	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:29318200-29319800	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:29318200-29320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:29318200-29322600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:29318200-29324200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:29318200-29324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:29318200-29324400	Weak transcription	Dnd41	blood
45	chr12:29318200-29326200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:29318400-29318800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:29318400-29318800	Enhancers	GM12878-XiMat	blood
48	chr12:29318400-29319600	Weak transcription	Colonic Mucosa	Colon
49	chr12:29318400-29320200	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:29318400-29320400	Enhancers	Duodenum Smooth Muscle	Duodenum

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