Variant report

Variant	rs59998584
Chromosome Location	chr12:65060826-65060827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65060197..65063075-chr12:65066604..65068445,2	K562	blood:
2	chr12:65056764..65058467-chr12:65059357..65061910,2	K562	blood:
3	chr12:65052809..65057166-chr12:65058772..65061911,4	MCF-7	breast:
4	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506536	1.00[EUR][1000 genomes]
rs11175472	1.00[EUR][1000 genomes]
rs11175473	1.00[EUR][1000 genomes]
rs11175516	1.00[EUR][1000 genomes]
rs12304348	1.00[EUR][1000 genomes]
rs12304958	1.00[EUR][1000 genomes]
rs12313871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314167	1.00[EUR][1000 genomes]
rs12321771	1.00[EUR][1000 genomes]
rs12322583	1.00[EUR][1000 genomes]
rs13377735	1.00[EUR][1000 genomes]
rs17100505	1.00[EUR][1000 genomes]
rs55657746	1.00[EUR][1000 genomes]
rs56271113	1.00[EUR][1000 genomes]
rs61228947	1.00[EUR][1000 genomes]
rs73317542	1.00[EUR][1000 genomes]
rs74098104	1.00[AMR][1000 genomes]
rs74098107	1.00[AMR][1000 genomes]
rs74098110	1.00[AMR][1000 genomes]
rs74098114	1.00[AMR][1000 genomes]
rs74098118	1.00[EUR][1000 genomes]
rs74100757	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65047800-65063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:65048000-65063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:65048400-65062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:65049200-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:65054800-65061400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:65056200-65062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:65056400-65061800	Enhancers	Hela-S3	cervix
8	chr12:65056800-65061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:65057200-65063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:65057800-65063200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:65058200-65062000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:65058200-65062600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:65058200-65062600	Enhancers	Psoas Muscle	Psoas
14	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:65058400-65063000	Enhancers	Primary B cells from cord blood	blood
16	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
17	chr12:65058600-65061800	Enhancers	Ovary	ovary
18	chr12:65058800-65061000	Enhancers	Liver	Liver
19	chr12:65058800-65061000	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:65058800-65062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:65058800-65062200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:65058800-65062400	Enhancers	Right Atrium	heart
23	chr12:65058800-65063000	Enhancers	HepG2	liver
24	chr12:65058800-65063200	Enhancers	K562	blood
25	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
26	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:65059000-65061800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:65059000-65063000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:65059000-65063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:65059200-65061000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:65059200-65061400	Enhancers	Fetal Intestine Small	intestine
33	chr12:65059200-65061800	Enhancers	Colon Smooth Muscle	Colon
34	chr12:65059200-65062600	Enhancers	Left Ventricle	heart
35	chr12:65059200-65062600	Enhancers	Lung	lung
36	chr12:65059200-65063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:65059400-65061000	Enhancers	Fetal Stomach	stomach
38	chr12:65059400-65061000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:65059400-65061600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr12:65059400-65061600	Enhancers	Fetal Muscle Leg	muscle
41	chr12:65059400-65062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:65059400-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:65059400-65062400	Enhancers	Colonic Mucosa	Colon
44	chr12:65059400-65062600	Enhancers	Pancreas	Pancrea
45	chr12:65059400-65063000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:65059400-65063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:65059400-65065200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
50	chr12:65059600-65061000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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