Variant report

Variant	rs7597402
Chromosome Location	chr2:190321262-190321263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190319724..190322285-chr2:190329459..190331222,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10166669	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	0.96[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	0.96[EUR][1000 genomes]
rs10178743	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178969	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179002	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10181606	1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	0.96[EUR][1000 genomes]
rs10190096	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	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10194053	1.00[AFR][1000 genomes];1.00[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	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196323	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196675	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10200629	1.00[EUR][1000 genomes]
rs10201372	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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202723	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202780	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202907	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];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	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	1.00[EUR][1000 genomes]
rs10206086	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	0.96[EUR][1000 genomes]
rs10207004	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10208826	0.90[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	0.95[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	0.89[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	1.00[AFR][1000 genomes];1.00[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	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391984	0.96[EUR][1000 genomes]
rs13392896	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13392978	1.00[AFR][1000 genomes];1.00[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	0.96[EUR][1000 genomes]
rs13396980	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400624	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13401179	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405157	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406037	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406041	0.95[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	0.96[EUR][1000 genomes]
rs13407566	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13409317	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413979	0.96[EUR][1000 genomes]
rs13414763	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]
rs13426353	1.00[AFR][1000 genomes];1.00[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	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429203	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430496	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430587	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430671	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430879	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430915	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431292	0.95[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]
rs28509172	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627748	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725458	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725599	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737615	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740723	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740742	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740999	1.00[AFR][1000 genomes];1.00[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	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757134	1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572416	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574439	1.00[AFR][1000 genomes];1.00[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	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606348	1.00[AFR][1000 genomes];1.00[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:4 , 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	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
4	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:190307600-190323400	Weak transcription	Ovary	ovary
7	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
8	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
9	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
10	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
12	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
13	chr2:190308000-190334600	Weak transcription	Right Ventricle	heart
14	chr2:190308200-190325000	Weak transcription	Thymus	Thymus
15	chr2:190308200-190328400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:190308200-190328600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:190308200-190342800	Strong transcription	A549	lung
18	chr2:190308400-190329800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:190309200-190327600	Weak transcription	Psoas Muscle	Psoas
23	chr2:190309200-190341200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:190309400-190337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:190309600-190325600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:190309600-190341800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:190309600-190342000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:190309800-190326400	Strong transcription	Fetal Intestine Large	intestine
29	chr2:190309800-190337000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:190309800-190342400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:190310200-190340600	Strong transcription	Dnd41	blood
32	chr2:190310200-190341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:190310400-190325000	Strong transcription	Primary T cells from cord blood	blood
34	chr2:190310400-190341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:190310800-190342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:190310800-190342000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:190311000-190340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:190311000-190341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:190311000-190341800	Strong transcription	NH-A	brain
40	chr2:190311200-190323600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:190311200-190341800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:190311600-190341800	Strong transcription	HMEC	breast
43	chr2:190311800-190341400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:190311800-190342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:190312000-190321600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:190312000-190325400	Strong transcription	HUVEC	blood vessel
47	chr2:190312000-190341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:190312200-190325400	Strong transcription	Fetal Brain Female	brain
49	chr2:190312200-190325800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:190312200-190330200	Strong transcription	Rectal Mucosa Donor 31	rectum

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