Variant report

Variant	rs36174757
Chromosome Location	chr2:189172823-189172824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189167224..189169277-chr2:189170587..189173046,3	K562	blood:
2	chr2:189155646..189158219-chr2:189172760..189175467,2	MCF-7	breast:
3	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10168305	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175838	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179836	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179899	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180000	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180687	0.83[EUR][1000 genomes]
rs10184703	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10187646	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10187791	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10189197	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10189416	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10195059	0.86[ASN][1000 genomes]
rs10199261	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10204144	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10209424	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210696	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10469734	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10469735	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693490	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693491	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693492	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693493	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693494	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693495	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693497	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987018	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987194	0.84[EUR][1000 genomes]
rs12987553	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12995727	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13000379	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003679	0.93[ASN][1000 genomes]
rs13003972	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007721	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13021294	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027220	0.93[ASN][1000 genomes]
rs13032231	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13382200	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13385282	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390401	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390524	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394232	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394422	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13403228	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13404958	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13413164	0.93[ASN][1000 genomes]
rs13429075	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2004888	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28572636	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34000922	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34066981	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34135749	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34140900	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34353529	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34358898	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34484855	0.87[ASN][1000 genomes]
rs34557812	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34575499	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34583514	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34762706	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34762794	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35015018	0.86[ASN][1000 genomes]
rs35060323	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35196443	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35325130	0.86[ASN][1000 genomes]
rs35442646	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35536225	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35877064	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128404	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4261684	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4361092	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4430902	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4458180	0.81[EUR][1000 genomes]
rs4535011	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4640356	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4667219	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667220	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4992742	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4992743	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4992744	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55852512	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434277	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66948063	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66993342	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718697	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720002	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720983	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67240894	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67344766	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67389016	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748077	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67621133	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67804812	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72901602	0.87[ASN][1000 genomes]
rs72909512	0.86[ASN][1000 genomes]
rs72909520	0.86[ASN][1000 genomes]
rs72911423	0.86[ASN][1000 genomes]
rs7571197	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571494	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7579554	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593232	0.86[ASN][1000 genomes]
rs9288152	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288153	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9808523	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9808557	0.84[AMR][1000 genomes];0.97[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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
2	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
3	chr2:189168200-189183200	Weak transcription	Ovary	ovary
4	chr2:189168400-189173200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:189168800-189183200	Weak transcription	A549	lung
6	chr2:189169000-189173600	Enhancers	HUVEC	blood vessel
7	chr2:189169400-189173600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189169400-189173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:189169400-189187200	Weak transcription	NHLF	lung
10	chr2:189169600-189173400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189170200-189173000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:189170400-189173200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:189170400-189177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:189170600-189183200	Weak transcription	Gastric	stomach
16	chr2:189170800-189173000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:189171000-189173000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:189171000-189173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:189171400-189173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:189171600-189176400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:189171600-189179200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:189171600-189179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:189172200-189173400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:189172400-189173000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:189172400-189173000	Enhancers	NHEK	skin
26	chr2:189172400-189173400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:189172400-189173800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:189172600-189173000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189172600-189173000	Enhancers	HMEC	breast
30	chr2:189172600-189173600	Enhancers	Colon Smooth Muscle	Colon
31	chr2:189172600-189179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:189172800-189173000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:189172800-189173000	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:189172800-189173400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial

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