Variant report

Variant	rs10190733
Chromosome Location	chr2:152683459-152683460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152682999..152684816-chr2:152835840..152837979,2	K562	blood:
2	chr2:152623919..152627757-chr2:152680404..152683778,4	K562	blood:
3	chr2:152615779..152617906-chr2:152682702..152684733,2	K562	blood:
4	chr2:152655109..152656955-chr2:152681729..152684723,2	K562	blood:
5	chr2:152663598..152665100-chr2:152681522..152683558,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10169098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172958	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173570	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174624	0.85[ASN][1000 genomes]
rs10179630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186879	0.96[ASN][1000 genomes]
rs10198509	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204195	0.92[ASN][1000 genomes]
rs10210114	0.96[ASN][1000 genomes]
rs10497093	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692567	0.81[ASN][1000 genomes]
rs12328396	0.88[ASN][1000 genomes]
rs12693126	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992632	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12994595	1.00[ASN][1000 genomes]
rs13384856	0.88[ASN][1000 genomes]
rs13386934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395294	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404687	0.98[EUR][1000 genomes]
rs13408513	0.92[ASN][1000 genomes]
rs13414130	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416266	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421183	0.88[ASN][1000 genomes]
rs13427102	0.81[ASN][1000 genomes]
rs13428623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830358	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830400	1.00[ASN][1000 genomes]
rs2030589	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629725	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111287	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36141926	0.92[ASN][1000 genomes]
rs3768656	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4436952	0.96[ASN][1000 genomes]
rs4525690	0.92[ASN][1000 genomes]
rs62174407	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62174408	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62174411	1.00[ASN][1000 genomes]
rs6433628	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729878	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750638	0.96[ASN][1000 genomes]
rs6754783	0.96[ASN][1000 genomes]
rs7560854	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565109	0.96[ASN][1000 genomes]
rs7591340	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152675200-152684000	Weak transcription	Esophagus	oesophagus
2	chr2:152675200-152684000	Weak transcription	Lung	lung
3	chr2:152680600-152684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:152680600-152684000	Weak transcription	Pancreas	Pancrea
5	chr2:152680600-152684000	Weak transcription	Spleen	Spleen
6	chr2:152681400-152684000	Weak transcription	Gastric	stomach
7	chr2:152682200-152683800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:152682200-152684000	Flanking Active TSS	HUVEC	blood vessel
9	chr2:152682400-152683600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:152682600-152683800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:152682800-152683600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:152682800-152683600	Flanking Active TSS	HepG2	liver
13	chr2:152682800-152683800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:152682800-152683800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:152682800-152683800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:152682800-152683800	Flanking Active TSS	NH-A	brain
17	chr2:152682800-152684000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:152682800-152684000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:152682800-152684000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:152682800-152684000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr2:152682800-152684200	Flanking Active TSS	Dnd41	blood
22	chr2:152682800-152685200	Active TSS	Fetal Intestine Large	intestine
23	chr2:152682800-152685200	Active TSS	GM12878-XiMat	blood
24	chr2:152682800-152685200	Active TSS	HMEC	breast
25	chr2:152682800-152685400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:152682800-152685400	Active TSS	Aorta	Aorta
27	chr2:152682800-152685600	Active TSS	Right Atrium	heart
28	chr2:152683000-152683600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:152683000-152683600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:152683000-152683600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:152683000-152683600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:152683000-152683600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:152683000-152683600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:152683000-152683600	Flanking Active TSS	Fetal Brain Female	brain
35	chr2:152683000-152683600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:152683000-152683600	Flanking Active TSS	HSMMtube	muscle
37	chr2:152683000-152683800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:152683000-152683800	Flanking Active TSS	Fetal Heart	heart
39	chr2:152683000-152683800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr2:152683000-152684000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:152683000-152684000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr2:152683000-152684000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr2:152683000-152684000	Flanking Active TSS	Fetal Lung	lung
44	chr2:152683000-152684000	Flanking Active TSS	Osteobl	bone
45	chr2:152683000-152684200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:152683000-152684400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:152683000-152684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:152683000-152684400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:152683000-152684600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:152683000-152684600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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