Variant report

Variant	rs62156689
Chromosome Location	chr2:67633039-67633040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67629564..67632235-chr2:67632835..67636126,3	K562	blood:
2	chr2:67625121..67629368-chr2:67632495..67635938,4	K562	blood:
3	chr2:67624567..67629481-chr2:67631992..67635938,6	K562	blood:
4	chr2:67623626..67627299-chr2:67629860..67634637,7	MCF-7	breast:
5	chr2:67632031..67634480-chr2:67638305..67640066,2	K562	blood:

Variant related genes	Relation type
ENSG00000143971	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10496153	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1063571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988210	0.82[AMR][1000 genomes]
rs12991090	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12996359	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000557	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13004747	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13004765	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13009070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13015319	0.82[AMR][1000 genomes]
rs13015349	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13016330	0.82[AMR][1000 genomes]
rs13017696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018894	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13026513	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13030037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13034744	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13035051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13035754	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13036061	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1521051	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17544516	0.82[AMR][1000 genomes]
rs17544551	0.82[AMR][1000 genomes]
rs17545245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17545301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17545329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17603914	0.82[AMR][1000 genomes]
rs2171176	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34103917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34274370	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34281542	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34298852	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34418651	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34493710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34547630	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34636997	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34737312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34920978	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34962808	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34997300	0.82[AMR][1000 genomes]
rs35002490	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35141978	0.82[AMR][1000 genomes]
rs35144434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35340993	0.82[AMR][1000 genomes]
rs35382600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35503819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35570926	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35607813	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35610403	0.82[AMR][1000 genomes]
rs35686078	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35777125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36098430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4428006	0.85[EUR][1000 genomes]
rs62154898	0.82[AMR][1000 genomes]
rs62154948	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154949	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154950	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154951	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154952	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62154957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62154958	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156688	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156693	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156698	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156756	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156757	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156758	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62158290	0.82[AMR][1000 genomes]
rs71411986	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71411987	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71411988	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7585807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67625200-67638200	Weak transcription	Left Ventricle	heart
2	chr2:67625400-67633200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:67625400-67633800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:67625400-67634400	Weak transcription	Ovary	ovary
5	chr2:67625400-67636000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:67625400-67639400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:67625400-67639400	Weak transcription	Psoas Muscle	Psoas
8	chr2:67625400-67639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:67625400-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:67625400-67640200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
14	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:67625600-67634600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:67625600-67638000	Weak transcription	Fetal Stomach	stomach
17	chr2:67625600-67638800	Weak transcription	Fetal Brain Female	brain
18	chr2:67625600-67639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:67625600-67639600	Weak transcription	Right Ventricle	heart
20	chr2:67625600-67639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:67625600-67641000	Weak transcription	Fetal Brain Male	brain
22	chr2:67626200-67633200	Weak transcription	Fetal Heart	heart
23	chr2:67626200-67639200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:67626400-67638800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:67626600-67638200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:67626600-67638800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:67626800-67637800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:67627000-67638800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:67627200-67636000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:67627200-67638800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:67627600-67641200	Weak transcription	Primary T cells from cord blood	blood
32	chr2:67627800-67633800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:67628000-67633600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:67628000-67640000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:67628000-67641800	Weak transcription	Aorta	Aorta
36	chr2:67628200-67634000	Strong transcription	Dnd41	blood
37	chr2:67628200-67635000	Strong transcription	HMEC	breast
38	chr2:67628200-67641200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:67628200-67641400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:67628400-67633400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:67628400-67642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:67628800-67633800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:67628800-67639400	Weak transcription	NHEK	skin
44	chr2:67629000-67633600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr2:67629000-67634600	Strong transcription	HSMM	muscle
46	chr2:67629000-67635400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:67629000-67638600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:67629000-67638800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:67629200-67633600	Strong transcription	HepG2	liver
50	chr2:67629400-67633200	Strong transcription	Placenta	Placenta

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