Variant report

Variant	rs16907359
Chromosome Location	chr12:11979880-11979881
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	chr12:11977943..11979982-chr12:11981933..11983586,2	K562	blood:

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

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

rs_ID	r²[population]
rs16907395	0.81[EUR][1000 genomes]
rs17300449	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819001	0.82[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877800	1.00[ASN][1000 genomes]
rs55981107	0.94[EUR][1000 genomes]
rs56116163	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338611	1.00[ASN][1000 genomes]
rs56403725	0.94[EUR][1000 genomes]
rs73052064	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052069	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052074	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052077	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052089	0.82[AMR][1000 genomes];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	chr12:11967800-11980200	Weak transcription	Aorta	Aorta
5	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:11971000-11982200	Weak transcription	HepG2	liver
7	chr12:11971400-11986600	Weak transcription	Gastric	stomach
8	chr12:11973200-11980400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:11974600-11981400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:11974800-11980200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:11974800-11982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:11975400-11980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:11975400-11980400	Weak transcription	Pancreas	Pancrea
15	chr12:11975400-11981600	Weak transcription	Primary T cells from cord blood	blood
16	chr12:11975400-11982000	Weak transcription	Esophagus	oesophagus
17	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:11975800-11981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:11975800-11982000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:11975800-11982400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:11975800-11984200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:11976200-11980200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:11976200-11983000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:11976200-11983000	Weak transcription	NHEK	skin
30	chr12:11976200-11983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:11976200-11985000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:11976200-11986800	Weak transcription	A549	lung
33	chr12:11976600-11980200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:11976600-11982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:11976600-11982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:11976800-11980000	Weak transcription	Fetal Brain Male	brain
37	chr12:11976800-11980000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:11976800-11980600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:11976800-11983000	Weak transcription	HMEC	breast
40	chr12:11977000-11980000	Weak transcription	HSMM	muscle
41	chr12:11977000-11980200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:11977000-11980200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:11977000-11980200	Weak transcription	Psoas Muscle	Psoas
44	chr12:11977000-11987000	Weak transcription	Small Intestine	intestine
45	chr12:11977400-11980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:11977400-11980200	Weak transcription	Fetal Stomach	stomach
47	chr12:11977400-11982200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:11977400-11984400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:11977800-11980200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:11977800-11980200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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