Variant report

Variant	rs12619195
Chromosome Location	chr2:233678326-233678327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10210953	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1022329	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10427328	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1078323	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1083522	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs10933406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs1104764	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11535	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs11688166	0.92[CEU][hapmap]
rs11689851	0.92[CEU][hapmap]
rs11893358	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12105766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993791	0.87[EUR][1000 genomes]
rs12999865	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13001052	0.88[EUR][1000 genomes]
rs13007579	0.93[CEU][hapmap]
rs13021823	0.86[EUR][1000 genomes]
rs13024330	0.92[CEU][hapmap]
rs17164	0.92[CEU][hapmap]
rs1973675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289911	0.93[CEU][hapmap]
rs2293780	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2344613	0.93[CEU][hapmap]
rs2675954	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2675968	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs2675972	0.85[EUR][1000 genomes]
rs283465	0.80[EUR][1000 genomes]
rs283467	0.80[EUR][1000 genomes]
rs283470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283487	0.81[EUR][1000 genomes]
rs34707169	0.85[EUR][1000 genomes]
rs35491427	0.87[EUR][1000 genomes]
rs4973563	0.93[CEU][hapmap]
rs4973564	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62193269	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6704763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6710294	0.88[EUR][1000 genomes]
rs6717048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733495	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6739794	0.87[EUR][1000 genomes]
rs709937	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs737027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs748002	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs778341	0.95[YRI][hapmap]
rs778370	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs921055	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs938569	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs974321	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
4	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
7	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:233666600-233680000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:233669200-233682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:233669400-233678400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:233669400-233690400	Strong transcription	Dnd41	blood
16	chr2:233669400-233703600	Strong transcription	Liver	Liver
17	chr2:233669600-233682400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:233669600-233686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
20	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:233669800-233681000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:233669800-233686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:233669800-233686400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:233670000-233678400	Strong transcription	HSMM	muscle
26	chr2:233670000-233679400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:233670000-233686200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:233670200-233678400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:233670200-233682400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:233670200-233683200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:233670200-233684000	Strong transcription	GM12878-XiMat	blood
34	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:233670200-233702600	Strong transcription	HepG2	liver
38	chr2:233670600-233678400	Strong transcription	Primary T cells from cord blood	blood
39	chr2:233670600-233678800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:233670800-233678600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:233670800-233679000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:233670800-233686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:233671000-233682200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:233671000-233684800	Strong transcription	NHEK	skin
48	chr2:233671000-233686600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:233671000-233687000	Strong transcription	Fetal Thymus	thymus
50	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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