Variant report

Variant	rs35861754
Chromosome Location	chr12:29319079-29319080
allele	G/T
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: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12811417	1.00[EUR][1000 genomes]
rs12813343	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12815733	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12816534	1.00[EUR][1000 genomes]
rs12817351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12819686	1.00[EUR][1000 genomes]
rs12820515	1.00[EUR][1000 genomes]
rs12826306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12831837	1.00[EUR][1000 genomes]
rs12832977	1.00[EUR][1000 genomes]
rs1496214	0.85[AMR][1000 genomes]
rs34064202	1.00[EUR][1000 genomes]
rs34158620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34170651	1.00[EUR][1000 genomes]
rs34237455	1.00[EUR][1000 genomes]
rs34270636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34339523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34391841	1.00[EUR][1000 genomes]
rs34418975	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34492685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34526565	1.00[EUR][1000 genomes]
rs34572599	1.00[EUR][1000 genomes]
rs34601700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34624113	1.00[EUR][1000 genomes]
rs34685180	1.00[EUR][1000 genomes]
rs34690032	1.00[EUR][1000 genomes]
rs34825983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34879577	1.00[EUR][1000 genomes]
rs34941964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34990495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35018848	0.89[AFR][1000 genomes]
rs35039649	1.00[EUR][1000 genomes]
rs35042869	1.00[EUR][1000 genomes]
rs35054952	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35071007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35100017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35121122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35195316	1.00[EUR][1000 genomes]
rs35199330	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35244320	0.88[AFR][1000 genomes]
rs35426167	1.00[EUR][1000 genomes]
rs35447364	1.00[EUR][1000 genomes]
rs35708989	1.00[EUR][1000 genomes]
rs35736217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35763553	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35773649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35776525	1.00[EUR][1000 genomes]
rs35779561	1.00[EUR][1000 genomes]
rs71453726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71453728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71453729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307362	0.91[AFR][1000 genomes]
rs7315584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953699	0.85[AMR][1000 genomes]
rs7955386	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971655	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972299	0.82[AFR][1000 genomes];1.00[EUR][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:46 , 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	chr12:29313400-29319400	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	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
10	chr12:29317000-29320800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:29317000-29324000	Enhancers	Fetal Intestine Small	intestine
12	chr12:29317600-29322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:29317600-29324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:29317600-29324400	Weak transcription	Lung	lung
15	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
16	chr12:29317800-29321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:29317800-29321600	Weak transcription	Spleen	Spleen
18	chr12:29317800-29322200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:29317800-29323000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:29317800-29324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:29317800-29324400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:29317800-29324400	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:29317800-29324400	Weak transcription	Fetal Stomach	stomach
24	chr12:29317800-29326800	Weak transcription	Primary T cells from cord blood	blood
25	chr12:29318000-29323000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:29318200-29319400	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:29318200-29319800	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:29318200-29320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:29318200-29322600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:29318200-29324200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:29318200-29324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:29318200-29324400	Weak transcription	Dnd41	blood
33	chr12:29318200-29326200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:29318400-29319600	Weak transcription	Colonic Mucosa	Colon
35	chr12:29318400-29320200	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:29318400-29320400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:29318400-29321200	Weak transcription	Fetal Lung	lung
38	chr12:29318400-29322600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:29318400-29324600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:29318400-29329600	Weak transcription	NHLF	lung
41	chr12:29318800-29319800	Weak transcription	Stomach Mucosa	stomach
42	chr12:29318800-29320200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:29318800-29324000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:29319000-29320600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr12:29319000-29322200	Weak transcription	HUVEC	blood vessel
46	chr12:29319000-29322600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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