Variant report

Variant	rs56198451
Chromosome Location	chr12:11980765-11980766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11980059..11983037-chr12:11983284..11986471,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16907359	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907395	0.81[EUR][1000 genomes]
rs17300449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819001	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877800	1.00[ASN][1000 genomes]
rs55981107	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56116163	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338611	1.00[ASN][1000 genomes]
rs56403725	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73052064	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052069	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052074	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052089	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053904	1.00[ASN][1000 genomes]
rs74060865	1.00[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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 target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11966400-11983000	Weak transcription	Colonic Mucosa	Colon
2	chr12:11967200-11982800	Weak transcription	Stomach Mucosa	stomach
3	chr12:11967400-11984000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:11971000-11982200	Weak transcription	HepG2	liver
6	chr12:11971400-11986600	Weak transcription	Gastric	stomach
7	chr12:11974600-11981400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:11974800-11982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:11975400-11981600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:11975400-11982000	Weak transcription	Esophagus	oesophagus
12	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:11975800-11981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:11975800-11982000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:11975800-11982400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:11975800-11984200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:11976200-11983000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:11976200-11983000	Weak transcription	NHEK	skin
24	chr12:11976200-11983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:11976200-11985000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:11976200-11986800	Weak transcription	A549	lung
27	chr12:11976600-11982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:11976600-11982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:11976800-11983000	Weak transcription	HMEC	breast
30	chr12:11977000-11987000	Weak transcription	Small Intestine	intestine
31	chr12:11977400-11982200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:11977400-11984400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:11978400-11980800	Enhancers	Fetal Muscle Leg	muscle
34	chr12:11978400-11981200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:11978400-11983000	Genic enhancers	GM12878-XiMat	blood
36	chr12:11978400-11983800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:11978400-11986400	Weak transcription	HUVEC	blood vessel
38	chr12:11978600-11982600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:11978600-11987200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:11978800-11980800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:11978800-11980800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:11978800-11980800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:11978800-11982600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:11978800-11984000	Genic enhancers	Fetal Thymus	thymus
45	chr12:11978800-11984000	Strong transcription	Dnd41	blood
46	chr12:11979000-11980800	Enhancers	Fetal Brain Female	brain
47	chr12:11979000-11980800	Enhancers	Placenta	Placenta
48	chr12:11979000-11980800	Genic enhancers	Lung	lung
49	chr12:11979000-11980800	Enhancers	Right Atrium	heart
50	chr12:11979000-11980800	Enhancers	Spleen	Spleen

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