Variant report

Variant	rs73073757
Chromosome Location	chr12:29314277-29314278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29301930..29304912-chr12:29311459..29315491,4	K562	blood:
2	chr12:29305381..29308079-chr12:29313278..29315521,2	K562	blood:
3	chr12:29312167..29314596-chr12:29316274..29317883,2	K562	blood:

Variant related genes	Relation type
ENSG00000064763	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11050001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834972	1.00[EUR][1000 genomes]
rs12298807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304835	0.83[AFR][1000 genomes]
rs12305640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313631	1.00[EUR][1000 genomes]
rs12314772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319600	0.83[AFR][1000 genomes]
rs12319668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061899	1.00[EUR][1000 genomes]
rs73063608	1.00[EUR][1000 genomes]
rs73063634	1.00[EUR][1000 genomes]
rs73063636	1.00[EUR][1000 genomes]
rs73063639	1.00[EUR][1000 genomes]
rs73063778	1.00[EUR][1000 genomes]
rs73063781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73068496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077524	1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	1.00[EUR][1000 genomes]
rs73077591	1.00[EUR][1000 genomes]
rs73077598	1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs7966961	1.00[EUR][1000 genomes]
rs7980369	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
3	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
4	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:29308400-29317000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:29308800-29317200	Weak transcription	Dnd41	blood
10	chr12:29309400-29314400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:29310800-29317400	Weak transcription	NHEK	skin
12	chr12:29311600-29317600	Weak transcription	HMEC	breast
13	chr12:29312000-29317200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:29312000-29317200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:29313000-29316800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:29313000-29317000	Weak transcription	K562	blood
17	chr12:29313000-29317200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29313200-29315800	Weak transcription	Small Intestine	intestine
19	chr12:29313200-29316800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:29313400-29315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:29313400-29316200	Weak transcription	Stomach Mucosa	stomach
22	chr12:29313400-29316400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:29313400-29316600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:29313400-29316800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:29313400-29317000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:29313400-29317200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:29313400-29317200	Weak transcription	Spleen	Spleen
28	chr12:29313400-29319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:29313600-29315000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:29313600-29315600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:29313600-29316000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:29313600-29316800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:29313600-29317000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:29313600-29317000	Weak transcription	HUVEC	blood vessel
35	chr12:29313600-29317200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:29313600-29317200	Weak transcription	Esophagus	oesophagus
37	chr12:29313600-29317200	Weak transcription	Right Atrium	heart
38	chr12:29313600-29317400	Weak transcription	Primary T cells from cord blood	blood
39	chr12:29313600-29317400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:29313600-29317400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:29313600-29317400	Weak transcription	Fetal Thymus	thymus
42	chr12:29313600-29317600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:29313800-29314400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:29313800-29315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:29313800-29315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:29313800-29316200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:29313800-29316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:29313800-29317200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:29313800-29317200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:29313800-29317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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