Variant report

Variant	rs62156212
Chromosome Location	chr2:97399096-97399097
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	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119591	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.83[ASN][1000 genomes]
rs2139406	0.96[EUR][1000 genomes]
rs2276654	0.83[ASN][1000 genomes]
rs2280356	0.98[EUR][1000 genomes]
rs2314399	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872633	1.00[EUR][1000 genomes]
rs3731940	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731941	0.88[ASN][1000 genomes]
rs56797569	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56913233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs59073958	0.92[EUR][1000 genomes]
rs59648446	0.88[EUR][1000 genomes]
rs61742095	1.00[EUR][1000 genomes]
rs61750875	0.90[EUR][1000 genomes]
rs62152765	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152766	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152768	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152770	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.95[ASN][1000 genomes]
rs62152773	0.95[ASN][1000 genomes]
rs62152774	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152780	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62152783	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.84[ASN][1000 genomes]
rs62152785	0.90[ASN][1000 genomes]
rs62152786	0.88[ASN][1000 genomes]
rs62152787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.81[ASN][1000 genomes]
rs62152790	0.83[ASN][1000 genomes]
rs62152793	0.83[ASN][1000 genomes]
rs62152794	0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156206	0.96[EUR][1000 genomes]
rs62156207	0.96[EUR][1000 genomes]
rs62156208	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156209	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156226	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156227	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.85[ASN][1000 genomes]
rs62156230	1.00[ASN][1000 genomes]
rs62156231	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156232	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156233	1.00[ASN][1000 genomes]
rs62156234	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576981	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.90[ASN][1000 genomes]
rs6758151	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[ASN][1000 genomes]
rs878064	0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97368400-97405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97372400-97400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97377600-97399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:97378000-97403600	Weak transcription	Stomach Mucosa	stomach
6	chr2:97379000-97399200	Weak transcription	Fetal Heart	heart
7	chr2:97379800-97399200	Weak transcription	Fetal Brain Male	brain
8	chr2:97381000-97403800	Strong transcription	Fetal Muscle Leg	muscle
9	chr2:97381200-97404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:97383000-97399200	Strong transcription	Fetal Intestine Small	intestine
11	chr2:97383000-97403800	Strong transcription	Fetal Stomach	stomach
12	chr2:97385400-97403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:97385800-97403800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:97390200-97400800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:97390400-97404000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:97390800-97403400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:97390800-97403600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:97391200-97403400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:97391400-97400800	Strong transcription	Liver	Liver
20	chr2:97391400-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:97391600-97403000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:97391600-97403200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:97391600-97403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:97391600-97403800	Strong transcription	Fetal Thymus	thymus
27	chr2:97391600-97404000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:97392000-97399200	Strong transcription	Brain Anterior Caudate	brain
29	chr2:97392000-97399400	Strong transcription	Fetal Brain Female	brain
30	chr2:97392000-97400200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr2:97392000-97400200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:97392000-97400600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:97392000-97403200	Strong transcription	A549	lung
34	chr2:97392000-97403800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:97392200-97400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:97392200-97400400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:97392200-97400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:97392200-97402200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:97392200-97402400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:97392200-97403400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:97392400-97402800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:97392400-97403400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:97392600-97403000	Strong transcription	Thymus	Thymus
44	chr2:97392600-97403800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:97392800-97399800	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:97392800-97403400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:97393000-97399600	Strong transcription	Fetal Lung	lung
48	chr2:97393000-97400600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:97393000-97402000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:97393000-97402600	Strong transcription	Primary B cells from peripheral blood	blood

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