Variant report

Variant	rs62152785
Chromosome Location	chr2:97459403-97459404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:97459280-97459430	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr2:97459124-97459421	HepG2	liver:	n/a	chr2:97459269-97459283
3	RAD21	chr2:97459114-97459434	HepG2	liver:	n/a	chr2:97459269-97459283
4	CTCF	chr2:97459183-97459408	K562	blood:	n/a	n/a
5	CTCF	chr2:97459320-97459470	GM06990	blood:	n/a	n/a
6	RAD21	chr2:97459036-97459407	HepG2	liver:	n/a	chr2:97459269-97459283
7	CTCF	chr2:97459182-97459443	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97458233..97460368-chr2:97531143..97533967,2	K562	blood:
2	chr2:97426590..97430284-chr2:97458452..97461083,3	MCF-7	breast:
3	chr2:97459293..97462235-chr2:97481503..97483210,2	MCF-7	breast:

Variant related genes	Relation type
MIR3127	TF binding region
ENSG00000158158	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10203346	0.85[ASN][1000 genomes]
rs10439526	0.83[ASN][1000 genomes]
rs11889085	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12172	0.88[ASN][1000 genomes]
rs1320146	0.88[ASN][1000 genomes]
rs13419073	0.88[ASN][1000 genomes]
rs17119562	0.86[ASN][1000 genomes]
rs17119564	0.90[ASN][1000 genomes]
rs17119591	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17119598	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276654	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2314399	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3731941	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56797569	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56913233	0.90[ASN][1000 genomes]
rs57582887	0.90[ASN][1000 genomes]
rs58147284	0.88[ASN][1000 genomes]
rs59244622	0.83[ASN][1000 genomes]
rs62152765	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152766	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152767	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152768	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152770	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152771	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152773	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152774	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152780	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62152783	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152786	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62152787	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152788	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152790	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152793	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152794	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152834	0.88[ASN][1000 genomes]
rs62152860	0.85[ASN][1000 genomes]
rs62156208	0.90[ASN][1000 genomes]
rs62156209	0.90[ASN][1000 genomes]
rs62156210	0.90[ASN][1000 genomes]
rs62156211	0.90[ASN][1000 genomes]
rs62156212	0.90[ASN][1000 genomes]
rs62156213	0.90[ASN][1000 genomes]
rs62156216	0.90[ASN][1000 genomes]
rs62156219	0.90[ASN][1000 genomes]
rs62156220	0.90[ASN][1000 genomes]
rs62156221	0.90[ASN][1000 genomes]
rs62156222	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62156223	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62156225	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156226	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156227	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156228	0.90[ASN][1000 genomes]
rs62156229	0.88[EUR][1000 genomes]
rs62156230	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156231	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156232	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62156233	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156234	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576981	0.90[ASN][1000 genomes]
rs6576986	0.88[ASN][1000 genomes]
rs6576987	0.88[ASN][1000 genomes]
rs6751132	0.90[ASN][1000 genomes]
rs6756482	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758151	0.88[ASN][1000 genomes]
rs72809850	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.88[ASN][1000 genomes]
rs7568206	0.90[ASN][1000 genomes]
rs7580942	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs878064	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973492	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
2	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
3	chr2:97440000-97459600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:97440400-97462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:97440400-97462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:97440400-97462800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:97440400-97462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:97441000-97463400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:97442600-97462800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:97442800-97462600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:97442800-97462600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:97442800-97466600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:97449400-97464800	Weak transcription	GM12878-XiMat	blood
15	chr2:97449600-97462600	Weak transcription	Primary T cells from cord blood	blood
16	chr2:97450600-97462800	Weak transcription	Spleen	Spleen
17	chr2:97453000-97462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:97453000-97463800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:97454400-97462800	Weak transcription	Ovary	ovary
20	chr2:97454400-97462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:97454400-97466400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:97454600-97459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:97454600-97462800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:97454600-97462800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:97454600-97463000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:97454600-97463600	Weak transcription	Small Intestine	intestine
27	chr2:97454600-97463800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:97454600-97464800	Weak transcription	NHLF	lung
29	chr2:97454600-97467000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:97454600-97481000	Weak transcription	NHEK	skin
32	chr2:97454800-97462600	Weak transcription	Brain Anterior Caudate	brain
33	chr2:97454800-97462600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:97454800-97462600	Weak transcription	Fetal Stomach	stomach
35	chr2:97454800-97462800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:97454800-97463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:97454800-97463400	Weak transcription	Placenta	Placenta
38	chr2:97454800-97466400	Weak transcription	HSMM	muscle
39	chr2:97454800-97466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:97454800-97467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:97455000-97462600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:97455000-97462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:97455000-97462800	Weak transcription	Gastric	stomach
45	chr2:97455000-97462800	Weak transcription	Pancreas	Pancrea
46	chr2:97455000-97463000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:97455000-97463000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:97455000-97463400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:97455000-97466600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:97455200-97462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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