Variant report

Variant	rs62152768
Chromosome Location	chr2:97442906-97442907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97437914..97440608-chr2:97442411..97445406,2	MCF-7	breast:
2	chr2:97441669..97443780-chr2:97445939..97448293,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	0.95[ASN][1000 genomes]
rs17119564	1.00[ASN][1000 genomes]
rs17119591	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276654	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2314399	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3731940	0.81[ASN][1000 genomes]
rs3731941	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56797569	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56913233	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs62152765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152766	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152771	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152773	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152780	0.82[AMR][1000 genomes]
rs62152783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62152785	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152786	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152787	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152790	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152793	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152794	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156208	1.00[ASN][1000 genomes]
rs62156209	1.00[ASN][1000 genomes]
rs62156210	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	1.00[ASN][1000 genomes]
rs62156220	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	1.00[ASN][1000 genomes]
rs62156223	1.00[ASN][1000 genomes]
rs62156225	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156226	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156227	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156228	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156230	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156231	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156232	1.00[ASN][1000 genomes]
rs62156233	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576981	1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	1.00[ASN][1000 genomes]
rs6756482	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6758151	0.98[ASN][1000 genomes]
rs72809850	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	1.00[ASN][1000 genomes]
rs7580942	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs878064	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
2	chr2:97430400-97452200	Weak transcription	Ovary	ovary
3	chr2:97431400-97451400	Weak transcription	Hela-S3	cervix
4	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
5	chr2:97436000-97444000	Weak transcription	HSMM	muscle
6	chr2:97436200-97452600	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:97436400-97454000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:97436600-97452400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:97436600-97452600	Weak transcription	HepG2	liver
10	chr2:97436800-97446800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:97437000-97443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:97438200-97452200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:97439000-97448800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:97440000-97444400	Weak transcription	Right Atrium	heart
15	chr2:97440000-97450800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:97440000-97452000	Weak transcription	Liver	Liver
17	chr2:97440000-97452200	Weak transcription	Left Ventricle	heart
18	chr2:97440000-97454000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:97440000-97454000	Weak transcription	Pancreas	Pancrea
20	chr2:97440000-97454200	Weak transcription	Fetal Stomach	stomach
21	chr2:97440000-97459600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:97440200-97447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:97440200-97449000	Weak transcription	Primary T cells from cord blood	blood
25	chr2:97440200-97453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:97440200-97453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:97440400-97443800	Strong transcription	Fetal Intestine Small	intestine
28	chr2:97440400-97447200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:97440400-97451400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:97440400-97454000	Weak transcription	Gastric	stomach
31	chr2:97440400-97462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:97440400-97462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:97440400-97462800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:97440400-97462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:97440600-97451200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:97440600-97452600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:97441000-97451000	Weak transcription	Colonic Mucosa	Colon
38	chr2:97441000-97463400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:97441200-97449000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:97441400-97445800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:97441400-97447000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:97441400-97450400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:97442600-97445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:97442600-97447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:97442600-97448600	Weak transcription	GM12878-XiMat	blood
46	chr2:97442600-97462800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:97442800-97443200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:97442800-97454000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:97442800-97462600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:97442800-97462600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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