Variant report

Variant	rs13401179
Chromosome Location	chr2:190329522-190329523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190327296..190331377-chr2:190333062..190337017,6	K562	blood:
2	chr2:190326954..190329063-chr2:190329127..190332926,3	K562	blood:
3	chr2:190312541..190316389-chr2:190328485..190332647,5	K562	blood:
4	chr2:190305756..190307706-chr2:190328939..190331927,2	K562	blood:
5	chr2:190319724..190322285-chr2:190329459..190331222,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10166669	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10166763	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10168736	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10169952	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10171824	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10172337	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10174725	0.96[EUR][1000 genomes]
rs10174952	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177339	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177917	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178328	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178743	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179002	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10181606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10182531	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10185003	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10185694	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10186436	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10187336	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10187589	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10190096	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10191409	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10191847	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10193669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10194053	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194834	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10194934	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10196089	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10200629	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201372	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10201772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10202436	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203516	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10203719	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10204110	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10205090	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205139	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10207004	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10208826	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208917	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209758	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10931412	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10931413	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12165153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328504	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12328515	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12328914	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13383723	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13386772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387876	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13387877	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13388366	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13389403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391984	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13392896	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13392978	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394718	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396640	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396910	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400624	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13402923	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405157	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406037	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407353	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13407452	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13407566	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13409317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409397	0.80[AFR][1000 genomes]
rs13413979	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13414763	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13419269	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13419984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420832	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13423429	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13425539	0.80[AFR][1000 genomes]
rs13426353	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13427051	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427092	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13427686	0.88[EUR][1000 genomes]
rs13427692	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429203	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430496	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430671	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430879	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430915	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431292	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432036	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13432963	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28463020	0.88[AFR][1000 genomes]
rs28509172	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760459	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711766	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6724634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724646	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728197	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740723	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740742	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740926	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740999	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746050	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6754272	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755665	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757134	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355598	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7558500	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7561643	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7562592	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7571181	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574439	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7586032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597402	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597614	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606348	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9808058	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
2	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
4	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
5	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
6	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
8	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
9	chr2:190308000-190334600	Weak transcription	Right Ventricle	heart
10	chr2:190308200-190342800	Strong transcription	A549	lung
11	chr2:190308400-190329800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:190309200-190341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:190309400-190337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:190309600-190341800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:190309600-190342000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:190309800-190337000	Strong transcription	Primary B cells from cord blood	blood
20	chr2:190309800-190342400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:190310200-190340600	Strong transcription	Dnd41	blood
22	chr2:190310200-190341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:190310400-190341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:190310800-190342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:190310800-190342000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:190311000-190340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:190311000-190341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:190311000-190341800	Strong transcription	NH-A	brain
29	chr2:190311200-190341800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:190311600-190341800	Strong transcription	HMEC	breast
31	chr2:190311800-190341400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:190311800-190342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:190312000-190341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:190312200-190330200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:190312200-190335600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:190312200-190336400	Strong transcription	Placenta	Placenta
37	chr2:190312200-190339600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:190312200-190341200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:190312200-190341400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:190312200-190341400	Strong transcription	Osteobl	bone
41	chr2:190312200-190342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:190312600-190341200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:190312800-190330000	Strong transcription	Liver	Liver
44	chr2:190312800-190330800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:190312800-190331600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:190312800-190331800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:190312800-190336400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:190312800-190342600	Strong transcription	Fetal Thymus	thymus
49	chr2:190313000-190335600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:190313000-190337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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