Variant report

Variant	rs12275974
Chromosome Location	chr11:93416225-93416226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93415308..93417888-chr11:93438253..93439878,2	K562	blood:
2	chr11:93414129..93418173-chr11:93428809..93431936,3	K562	blood:
3	chr11:93408933..93411947-chr11:93412897..93417212,4	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10047479	1.00[ASN][1000 genomes]
rs10047481	1.00[ASN][1000 genomes]
rs10047484	1.00[ASN][1000 genomes]
rs1011993	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10128669	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10128673	1.00[ASN][1000 genomes]
rs10128725	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10128726	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10501805	1.00[JPT][hapmap]
rs10734163	1.00[ASN][1000 genomes]
rs10741471	1.00[CEU][hapmap]
rs10741472	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10741473	1.00[ASN][1000 genomes]
rs10765621	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10765622	1.00[ASN][1000 genomes]
rs10765624	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10765627	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10765628	1.00[CEU][hapmap]
rs10765629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10765631	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10831085	1.00[CEU][hapmap]
rs10831086	1.00[ASN][1000 genomes]
rs10831088	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10831092	1.00[ASN][1000 genomes]
rs11020467	1.00[ASN][1000 genomes]
rs11020468	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020469	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11020471	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020474	1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020477	1.00[CEU][hapmap]
rs11020493	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822965	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11828991	1.00[ASN][1000 genomes]
rs12271543	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12272963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274112	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12277268	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12284176	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12295009	1.00[ASN][1000 genomes]
rs13377252	1.00[ASN][1000 genomes]
rs13377541	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16919124	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1784203	1.00[CEU][hapmap]
rs1944099	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1944100	1.00[CEU][hapmap]
rs1944101	1.00[CEU][hapmap]
rs1944102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1944106	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1954994	1.00[CEU][hapmap]
rs2155246	1.00[CEU][hapmap]
rs2509840	1.00[CEU][hapmap]
rs4237560	1.00[ASN][1000 genomes]
rs4303195	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753095	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753096	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753098	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4753488	1.00[CEU][hapmap]
rs4753489	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753491	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4753495	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs56705833	1.00[ASN][1000 genomes]
rs58111338	1.00[ASN][1000 genomes]
rs586655	1.00[ASN][1000 genomes]
rs61904920	1.00[ASN][1000 genomes]
rs61904941	1.00[ASN][1000 genomes]
rs61904951	1.00[ASN][1000 genomes]
rs61904958	1.00[ASN][1000 genomes]
rs61906560	1.00[ASN][1000 genomes]
rs61918547	1.00[ASN][1000 genomes]
rs61918549	1.00[ASN][1000 genomes]
rs61918550	1.00[ASN][1000 genomes]
rs61918551	1.00[ASN][1000 genomes]
rs61918553	1.00[ASN][1000 genomes]
rs61918555	1.00[ASN][1000 genomes]
rs61918556	1.00[ASN][1000 genomes]
rs61918557	1.00[ASN][1000 genomes]
rs61918558	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61921277	1.00[ASN][1000 genomes]
rs623510	1.00[CEU][hapmap]
rs628916	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs629580	1.00[ASN][1000 genomes]
rs630648	1.00[CEU][hapmap]
rs631116	1.00[CEU][hapmap]
rs642984	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs648162	1.00[CEU][hapmap]
rs655279	1.00[ASN][1000 genomes]
rs674150	1.00[ASN][1000 genomes]
rs688374	0.83[ASN][1000 genomes]
rs7101779	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7111581	1.00[ASN][1000 genomes]
rs7113200	1.00[ASN][1000 genomes]
rs7127033	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7926876	1.00[CEU][hapmap]
rs7937523	1.00[CEU][hapmap]
rs7939834	1.00[ASN][1000 genomes]
rs7939847	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7940153	1.00[ASN][1000 genomes]
rs7941230	1.00[ASN][1000 genomes]
rs7949850	1.00[CEU][hapmap]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 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	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
2	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
5	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:93397600-93416400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
10	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:93399200-93439800	Strong transcription	Dnd41	blood
17	chr11:93399600-93418600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:93399600-93418800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:93399800-93418800	Strong transcription	Adipose Nuclei	Adipose
20	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93400800-93419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:93403800-93417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:93408200-93417600	Weak transcription	Fetal Kidney	kidney
29	chr11:93408800-93422200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:93409800-93423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:93411600-93420400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
36	chr11:93411800-93419000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:93411800-93419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:93411800-93419400	Strong transcription	Left Ventricle	heart
39	chr11:93412000-93418800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:93412000-93418800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:93412000-93426200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:93412200-93418800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:93412200-93418800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:93412200-93434600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:93412400-93418800	Strong transcription	NHDF-Ad	bronchial
46	chr11:93413800-93416600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:93413800-93416800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:93413800-93416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:93413800-93417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:93413800-93417400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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