Variant report

Variant	rs34143512
Chromosome Location	chr2:55751492-55751493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55751187..55754186-chr2:55756755..55759283,2	MCF-7	breast:
2	chr2:55747318..55749114-chr2:55750754..55752618,2	MCF-7	breast:
3	chr2:55749760..55752238-chr2:55760020..55761976,2	K562	blood:
4	chr2:55742826..55746774-chr2:55749245..55752700,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1013138	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12612227	0.84[AFR][1000 genomes]
rs12617627	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12618859	0.86[AFR][1000 genomes]
rs12986444	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12986797	0.86[AFR][1000 genomes]
rs12992408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12992827	0.81[ASN][1000 genomes]
rs12993624	0.88[AFR][1000 genomes]
rs12993642	0.81[ASN][1000 genomes]
rs12998780	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12999506	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12999680	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13003270	0.81[EUR][1000 genomes]
rs13005678	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13006502	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13009239	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13009906	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13010217	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13014898	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015018	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13015030	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13015744	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13018767	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13019595	0.84[AFR][1000 genomes]
rs13021958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13025331	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13027095	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13027803	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13032503	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1318672	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34013926	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35124901	0.86[AFR][1000 genomes]
rs3791654	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4322879	0.81[AFR][1000 genomes]
rs5012561	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55888859	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56122729	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66545054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6737995	0.87[AFR][1000 genomes]
rs6757006	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8080	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55747600-55752200	Weak transcription	Lung	lung
2	chr2:55747600-55753000	Weak transcription	Spleen	Spleen
3	chr2:55747800-55752000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:55747800-55752800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:55747800-55753600	Weak transcription	Gastric	stomach
6	chr2:55747800-55784000	Weak transcription	Esophagus	oesophagus
7	chr2:55748000-55751600	Weak transcription	Liver	Liver
8	chr2:55748000-55752000	Weak transcription	Stomach Mucosa	stomach
9	chr2:55748000-55752200	Weak transcription	Placenta	Placenta
10	chr2:55748000-55752200	Weak transcription	Ovary	ovary
11	chr2:55748000-55752200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:55748000-55752200	Weak transcription	Right Ventricle	heart
13	chr2:55748000-55752400	Weak transcription	Aorta	Aorta
14	chr2:55748000-55753000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:55748000-55757600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:55748000-55761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:55748000-55761200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:55748000-55784000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:55748000-55788000	Weak transcription	Colonic Mucosa	Colon
20	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
21	chr2:55748200-55752200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:55748200-55752200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:55748200-55752200	Weak transcription	Fetal Brain Male	brain
24	chr2:55748200-55752200	Weak transcription	Thymus	Thymus
25	chr2:55748200-55752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:55748200-55753000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:55748200-55753000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:55748200-55753200	Weak transcription	Fetal Kidney	kidney
29	chr2:55748200-55753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:55748200-55753400	Weak transcription	Fetal Intestine Large	intestine
31	chr2:55748200-55756600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:55748200-55757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:55748200-55757200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:55748200-55757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:55748200-55757400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:55748200-55764600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:55748200-55764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:55748200-55765000	Weak transcription	K562	blood
39	chr2:55748200-55769600	Weak transcription	Small Intestine	intestine
40	chr2:55748200-55769600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:55748200-55772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:55748200-55773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:55748200-55775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:55748200-55777400	Weak transcription	NHLF	lung
45	chr2:55748200-55778800	Weak transcription	Fetal Heart	heart
46	chr2:55748200-55782400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:55748400-55752000	Weak transcription	Brain Substantia Nigra	brain
48	chr2:55748400-55752200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:55748400-55752200	Weak transcription	A549	lung
50	chr2:55748400-55752200	Weak transcription	Hela-S3	cervix

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