Variant report

Variant	rs34873881
Chromosome Location	chr2:183824160-183824161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10187684	0.81[ASN][1000 genomes]
rs10204853	0.81[ASN][1000 genomes]
rs10497617	0.81[ASN][1000 genomes]
rs10931052	0.90[ASN][1000 genomes]
rs10931053	0.90[ASN][1000 genomes]
rs10931055	0.81[ASN][1000 genomes]
rs11889337	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11899644	0.81[ASN][1000 genomes]
rs12470377	0.90[ASN][1000 genomes]
rs12611998	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617567	0.81[ASN][1000 genomes]
rs12618652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12991342	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12992059	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12992669	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12994001	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000008	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13009031	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010139	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13409111	0.81[ASN][1000 genomes]
rs1400130	0.90[ASN][1000 genomes]
rs16823896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823906	0.90[ASN][1000 genomes]
rs16823931	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823936	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2138486	0.97[EUR][1000 genomes]
rs2368351	0.81[ASN][1000 genomes]
rs2675048	0.81[ASN][1000 genomes]
rs2675049	0.81[ASN][1000 genomes]
rs2675051	0.81[ASN][1000 genomes]
rs2675076	0.81[ASN][1000 genomes]
rs2705748	0.81[ASN][1000 genomes]
rs34179918	0.83[AMR][1000 genomes]
rs34192739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34215267	0.83[AMR][1000 genomes]
rs34254952	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34644467	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35175570	0.84[EUR][1000 genomes]
rs35310711	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35318802	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35368327	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35566709	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35628169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35720425	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971883	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255929	0.81[ASN][1000 genomes]
rs4341895	0.81[ASN][1000 genomes]
rs4389291	0.81[ASN][1000 genomes]
rs4392211	0.81[ASN][1000 genomes]
rs4414644	0.82[ASN][1000 genomes]
rs4666604	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4666873	0.81[ASN][1000 genomes]
rs4666876	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666881	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666882	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55739115	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60326110	0.81[ASN][1000 genomes]
rs60543070	0.81[ASN][1000 genomes]
rs62190104	0.81[ASN][1000 genomes]
rs6434000	0.81[ASN][1000 genomes]
rs66829551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714190	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718462	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726085	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730114	0.90[ASN][1000 genomes]
rs6730183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732015	0.90[ASN][1000 genomes]
rs6735144	0.81[ASN][1000 genomes]
rs6735651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761953	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67966058	0.90[ASN][1000 genomes]
rs71427864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73042165	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73980539	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566668	0.90[ASN][1000 genomes]
rs7589630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597884	0.81[ASN][1000 genomes]
rs7599002	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599011	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7605639	0.81[ASN][1000 genomes]
rs7607857	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9333280	0.90[ASN][1000 genomes]
rs9789450	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
4	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
5	chr2:183785800-183824200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183786600-183826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:183788000-183830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:183788200-183845600	Weak transcription	Lung	lung
9	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:183790800-183824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
12	chr2:183793600-183826600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:183795200-183824200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:183803800-183826600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:183803800-183826600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:183807400-183824200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:183812000-183839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:183812200-183826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:183812200-183826200	Weak transcription	Left Ventricle	heart
25	chr2:183812200-183826600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:183812200-183832800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:183812200-183833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:183812200-183838200	Weak transcription	Small Intestine	intestine
29	chr2:183812200-183842000	Weak transcription	Right Ventricle	heart
30	chr2:183812200-183874800	Weak transcription	Gastric	stomach
31	chr2:183812400-183831200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
34	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:183814800-183845600	Weak transcription	Ovary	ovary
36	chr2:183815000-183826600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:183815000-183833200	Weak transcription	Fetal Heart	heart
38	chr2:183815400-183826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:183815800-183824200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:183815800-183832800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:183816000-183832800	Weak transcription	Psoas Muscle	Psoas
42	chr2:183816400-183829800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:183816400-183829800	Weak transcription	Fetal Stomach	stomach
44	chr2:183816800-183824200	Strong transcription	NH-A	brain
45	chr2:183818000-183826600	Weak transcription	NHLF	lung
46	chr2:183818200-183826600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:183818400-183826400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:183818600-183824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:183819000-183830600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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