Variant report

Variant	rs13006705
Chromosome Location	chr2:171867153-171867154
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171862581..171865387-chr2:171866282..171868181,2	K562	blood:
2	chr2:171865165..171868164-chr2:171873511..171876613,3	K562	blood:
3	chr2:171866661..171869512-chr2:171870307..171871815,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10177560	0.89[ASN][1000 genomes]
rs10182205	0.86[ASN][1000 genomes]
rs10182207	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10186343	0.81[ASN][1000 genomes]
rs10189480	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193992	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10197081	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10199500	0.86[ASN][1000 genomes]
rs10206289	0.86[ASN][1000 genomes]
rs10207361	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210883	0.81[ASN][1000 genomes]
rs1025242	0.83[EUR][1000 genomes]
rs1035826	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1035828	0.81[ASN][1000 genomes]
rs1045327	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10803855	0.81[ASN][1000 genomes]
rs10930453	0.81[ASN][1000 genomes]
rs10930455	0.81[ASN][1000 genomes]
rs10930456	0.81[ASN][1000 genomes]
rs10930457	0.81[ASN][1000 genomes]
rs11553951	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11674590	0.81[ASN][1000 genomes]
rs11899305	0.81[ASN][1000 genomes]
rs12692962	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12997252	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12998296	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13000644	0.88[EUR][1000 genomes]
rs13000898	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13001088	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13002517	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003218	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13004273	0.81[ASN][1000 genomes]
rs13007415	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13010307	0.81[ASN][1000 genomes]
rs13016705	0.90[ASN][1000 genomes]
rs13025198	0.81[ASN][1000 genomes]
rs13026444	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028857	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13030784	0.81[ASN][1000 genomes]
rs13411575	0.81[ASN][1000 genomes]
rs13417709	0.89[ASN][1000 genomes]
rs13420171	0.86[ASN][1000 genomes]
rs13425247	0.81[ASN][1000 genomes]
rs13430489	0.81[ASN][1000 genomes]
rs13432325	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1344236	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1529378	0.81[ASN][1000 genomes]
rs16859142	0.81[ASN][1000 genomes]
rs17282929	0.82[ASN][1000 genomes]
rs17283147	0.81[ASN][1000 genomes]
rs1962841	0.81[ASN][1000 genomes]
rs1978592	0.81[ASN][1000 genomes]
rs1991370	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033160	0.81[ASN][1000 genomes]
rs2052808	0.81[ASN][1000 genomes]
rs2114595	0.81[ASN][1000 genomes]
rs2195072	0.89[ASN][1000 genomes]
rs2195117	0.81[ASN][1000 genomes]
rs2356597	0.81[ASN][1000 genomes]
rs2356607	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2557794	0.81[ASN][1000 genomes]
rs2676131	0.81[ASN][1000 genomes]
rs2676151	0.81[ASN][1000 genomes]
rs2723233	0.81[ASN][1000 genomes]
rs2723241	0.81[ASN][1000 genomes]
rs2723242	0.93[ASN][1000 genomes]
rs28740798	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34005022	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34017170	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34143031	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34303929	0.93[ASN][1000 genomes]
rs34453397	0.86[ASN][1000 genomes]
rs34518725	0.81[ASN][1000 genomes]
rs34563349	0.83[EUR][1000 genomes]
rs34622740	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34792013	0.81[ASN][1000 genomes]
rs34960296	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35047553	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35112379	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35279794	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35332006	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35381957	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35864840	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35890547	0.84[EUR][1000 genomes]
rs35900609	0.81[ASN][1000 genomes]
rs35987434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36058634	0.81[ASN][1000 genomes]
rs3731991	0.81[ASN][1000 genomes]
rs3770423	0.81[ASN][1000 genomes]
rs3770428	0.81[ASN][1000 genomes]
rs4668368	0.81[ASN][1000 genomes]
rs5028603	0.81[ASN][1000 genomes]
rs55987132	0.83[EUR][1000 genomes]
rs55996750	0.81[ASN][1000 genomes]
rs56114146	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57236236	0.93[ASN][1000 genomes]
rs6433276	0.81[ASN][1000 genomes]
rs6709077	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6710035	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6719647	0.81[ASN][1000 genomes]
rs6722537	0.81[ASN][1000 genomes]
rs6732229	0.81[ASN][1000 genomes]
rs6733178	0.81[ASN][1000 genomes]
rs6734542	0.81[ASN][1000 genomes]
rs6750849	0.81[ASN][1000 genomes]
rs6757510	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6758331	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6761596	0.81[ASN][1000 genomes]
rs6761642	0.81[ASN][1000 genomes]
rs6761759	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761889	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71415235	0.81[ASN][1000 genomes]
rs719548	0.89[ASN][1000 genomes]
rs72886381	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73013441	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7568083	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579424	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580629	0.81[ASN][1000 genomes]
rs7585418	0.81[ASN][1000 genomes]
rs7585619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587244	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593186	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7593193	0.81[ASN][1000 genomes]
rs7594177	0.86[ASN][1000 genomes]
rs7600914	0.81[ASN][1000 genomes]
rs7603340	0.81[ASN][1000 genomes]
rs7603858	0.82[ASN][1000 genomes]
rs7606502	0.86[ASN][1000 genomes]
rs7606822	0.81[ASN][1000 genomes]
rs958183	0.81[ASN][1000 genomes]
rs9646785	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
15	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
16	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
17	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:171847400-171871600	Strong transcription	Dnd41	blood
19	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
21	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
24	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:171848800-171873000	Strong transcription	HepG2	liver
26	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:171851800-171868800	Strong transcription	Primary B cells from cord blood	blood
28	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:171852200-171868800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:171852200-171871600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
32	chr2:171854000-171877400	Weak transcription	NHLF	lung
33	chr2:171855200-171867400	Weak transcription	Gastric	stomach
34	chr2:171855400-171871800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:171857200-171871600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:171857200-171871800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:171857800-171870600	Weak transcription	NH-A	brain
38	chr2:171858000-171867400	Weak transcription	NHEK	skin
39	chr2:171858000-171871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
41	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:171859000-171871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:171859200-171868400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:171859600-171871000	Weak transcription	Pancreas	Pancrea
46	chr2:171859600-171872400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
49	chr2:171859800-171868200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:171860000-171876400	Weak transcription	Fetal Stomach	stomach

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