Variant report

Variant	rs55977745
Chromosome Location	chr12:11985788-11985789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11983830..11986374-chr12:11987926..11989968,2	K562	blood:
2	chr12:11984588..11987060-chr12:11992006..11993729,2	K562	blood:
3	chr12:11984588..11986522-chr12:11992006..11994443,2	K562	blood:
4	chr12:11984792..11986374-chr12:11987471..11989426,2	K562	blood:
5	chr12:11980059..11983037-chr12:11983284..11986471,3	K562	blood:
6	chr12:11974834..11977419-chr12:11984759..11987051,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs56140733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58453187	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59843195	1.00[AMR][1000 genomes]
rs73275248	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060865	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060881	1.00[AMR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11971400-11986600	Weak transcription	Gastric	stomach
3	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:11976200-11986800	Weak transcription	A549	lung
11	chr12:11977000-11987000	Weak transcription	Small Intestine	intestine
12	chr12:11978400-11986400	Weak transcription	HUVEC	blood vessel
13	chr12:11978600-11987200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:11980400-12006000	Weak transcription	HSMMtube	muscle
15	chr12:11980600-11986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:11980800-11986600	Weak transcription	K562	blood
17	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:11981000-11986800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:11981200-11992000	Weak transcription	HSMM	muscle
20	chr12:11982000-11986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:11982000-11993000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:11982400-11986800	Weak transcription	Primary B cells from cord blood	blood
23	chr12:11982400-11991400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:11982400-11993400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:11982400-11994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:11982600-11986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:11982600-11988400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:11982600-11988400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:11982600-11988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:11982800-11987000	Weak transcription	NH-A	brain
31	chr12:11983000-11986600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:11983000-11987000	Weak transcription	HepG2	liver
33	chr12:11983000-11991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:11983200-11986400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:11983200-11986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:11983200-11986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:11983200-11989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:11983200-11991200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:11983200-11991600	Weak transcription	Fetal Stomach	stomach
40	chr12:11983200-11993200	Weak transcription	Fetal Lung	lung
41	chr12:11983400-11986400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:11983400-11986600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:11983400-11986600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:11983600-11986400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:11983600-11986400	Weak transcription	Stomach Mucosa	stomach
46	chr12:11983600-11986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:11983600-11986600	Weak transcription	Colonic Mucosa	Colon
48	chr12:11983600-11986600	Weak transcription	Esophagus	oesophagus
49	chr12:11983600-11987000	Weak transcription	Fetal Kidney	kidney
50	chr12:11983600-11987200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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