Variant report

Variant	rs62156216
Chromosome Location	chr2:97405127-97405128
allele	C/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	RAD21	chr2:97405091-97406251	IMR90	lung:	n/a	n/a
2	MAFK	chr2:97405035-97405448	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr2:97404880-97405261	K562	blood:	n/a	n/a
4	BHLHE40	chr2:97404974-97406183	K562	blood:	n/a	n/a
5	EP300	chr2:97405068-97405231	K562	blood:	n/a	n/a
6	CREB1	chr2:97404884-97406311	HepG2	liver:	n/a	n/a
7	RCOR1	chr2:97404894-97405251	K562	blood:	n/a	n/a
8	POLR2A	chr2:97404996-97405237	K562	blood:	n/a	n/a
9	HCFC1	chr2:97404986-97406414	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr2:97404911-97406195	Hela-S3	cervix:	n/a	chr2:97405924-97405939 chr2:97405924-97405939 chr2:97405924-97405939 chr2:97405902-97405911
11	RFX5	chr2:97405033-97406172	K562	blood:	n/a	chr2:97405924-97405939 chr2:97405924-97405939 chr2:97405924-97405939 chr2:97405902-97405911
12	RCOR1	chr2:97405014-97405347	K562	blood:	n/a	n/a
13	POLR2A	chr2:97404930-97405936	HepG2	liver:	n/a	n/a
14	SMC3	chr2:97405105-97406290	Hela-S3	cervix:	n/a	n/a
15	ARID3A	chr2:97404823-97406362	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:58602939..58605273-chr2:97404594..97406842,2	MCF-7	breast:
2	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
3	chr2:97377199..97379924-chr2:97404975..97407018,2	MCF-7	breast:
4	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
5	chr2:97405027..97406967-chr2:97777321..97779642,2	K562	blood:
6	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
7	chr2:97301549..97303722-chr2:97403763..97406916,3	K562	blood:
8	chr2:97303356..97305240-chr2:97403490..97407519,4	MCF-7	breast:
9	chr2:97301549..97303722-chr2:97403763..97405452,2	K562	blood:

Variant related genes	Relation type
LMAN2L	TF binding region
ENSG00000135976	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000259349	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]
rs62156212	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]
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97403600-97405200	Enhancers	Placenta	Placenta
2	chr2:97403600-97405200	Enhancers	Small Intestine	intestine
3	chr2:97403600-97405200	Enhancers	Spleen	Spleen
4	chr2:97404400-97405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:97404400-97405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:97404600-97405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:97404600-97405400	Flanking Active TSS	Dnd41	blood
8	chr2:97404800-97405200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:97404800-97405200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:97404800-97405200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:97404800-97405200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:97404800-97405200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:97404800-97405200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:97404800-97405200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:97404800-97405200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:97404800-97405200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:97404800-97405200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:97404800-97405200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:97404800-97405200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:97404800-97405200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr2:97404800-97405200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:97404800-97405200	Flanking Active TSS	Fetal Lung	lung
23	chr2:97404800-97405200	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr2:97404800-97405200	Flanking Active TSS	Fetal Stomach	stomach
25	chr2:97404800-97405200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:97404800-97405200	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr2:97404800-97405200	Flanking Active TSS	HMEC	breast
28	chr2:97404800-97405200	Flanking Active TSS	HSMM	muscle
29	chr2:97404800-97405200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:97404800-97405200	Flanking Active TSS	NHEK	skin
31	chr2:97404800-97405200	Flanking Active TSS	Osteobl	bone
32	chr2:97404800-97405400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:97404800-97405400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:97404800-97405400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:97404800-97405400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr2:97404800-97405400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr2:97404800-97405400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:97404800-97405400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr2:97404800-97405400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:97404800-97405400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:97404800-97405400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:97404800-97405400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:97404800-97405400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:97404800-97405400	Flanking Active TSS	Liver	Liver
45	chr2:97404800-97405400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr2:97404800-97405400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr2:97404800-97405400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:97404800-97405400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:97404800-97405400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:97404800-97405400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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