Variant report

Variant	rs17119562
Chromosome Location	chr2:97381844-97381845
allele	C/G
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	ARID3A	chr2:97381427-97381868	HepG2	liver:	n/a	n/a
2	TCF7L2	chr2:97381430-97381970	HEK293	kidney:	n/a	n/a
3	STAT3	chr2:97381808-97382008	MCF10A-Er-Src	breast:	n/a	n/a
4	TEAD4	chr2:97381343-97381899	HepG2	liver:	n/a	n/a
5	KAP1	chr2:97381392-97381857	HEK293	kidney:	n/a	n/a
6	FOXA1	chr2:97381380-97381892	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:97381398-97381866	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:97381732-97382266	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97377028..97378710-chr2:97380429..97382538,2	MCF-7	breast:
2	chr2:97380151..97383918-chr2:97384122..97387613,5	K562	blood:
3	chr2:97376307..97378261-chr2:97381311..97383323,2	MCF-7	breast:

Variant related genes	Relation type
LMAN2L	TF binding region
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11889085	0.91[ASN][1000 genomes]
rs1320146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13419073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17119564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17119598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2139406	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2276654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs2280356	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2314399	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2872633	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731940	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[ASN][1000 genomes]
rs56797569	0.95[ASN][1000 genomes]
rs56913233	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57582887	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59073958	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59648446	0.88[EUR][1000 genomes]
rs61742095	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61750875	0.90[EUR][1000 genomes]
rs62152765	0.95[ASN][1000 genomes]
rs62152766	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152767	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152768	0.95[ASN][1000 genomes]
rs62152770	0.95[ASN][1000 genomes]
rs62152771	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62152772	0.91[ASN][1000 genomes]
rs62152773	0.91[ASN][1000 genomes]
rs62152774	0.91[ASN][1000 genomes]
rs62152775	0.91[ASN][1000 genomes]
rs62152777	0.86[ASN][1000 genomes]
rs62152780	1.00[EUR][1000 genomes]
rs62152783	0.86[ASN][1000 genomes]
rs62152784	0.80[ASN][1000 genomes]
rs62152785	0.86[ASN][1000 genomes]
rs62152786	0.84[ASN][1000 genomes]
rs62152787	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62156206	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156207	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156209	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156210	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156211	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156212	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156213	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156216	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156219	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156220	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156221	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156222	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156223	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156225	0.95[ASN][1000 genomes]
rs62156226	0.95[ASN][1000 genomes]
rs62156227	0.95[ASN][1000 genomes]
rs62156228	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156229	0.81[ASN][1000 genomes]
rs62156230	0.95[ASN][1000 genomes]
rs62156231	0.95[ASN][1000 genomes]
rs62156232	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62156233	0.95[ASN][1000 genomes]
rs62156234	0.95[ASN][1000 genomes]
rs6576981	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6576987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6751132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6756482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6758151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72809850	0.91[ASN][1000 genomes]
rs7568206	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7580942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs878064	0.93[ASN][1000 genomes]
rs9948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9973492	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	chr2:97365000-97389400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr2:97365200-97387000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:97365400-97382400	Strong transcription	Primary T cells from cord blood	blood
4	chr2:97367400-97382600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:97367800-97382800	Strong transcription	Brain Anterior Caudate	brain
6	chr2:97368200-97382600	Strong transcription	Fetal Thymus	thymus
7	chr2:97368400-97405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97368600-97383200	Strong transcription	Brain Cingulate Gyrus	brain
9	chr2:97370200-97382400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:97370600-97398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:97372400-97400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:97373200-97399000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:97373400-97395000	Weak transcription	Small Intestine	intestine
14	chr2:97375600-97383200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:97375600-97383400	Strong transcription	Fetal Lung	lung
16	chr2:97375600-97398600	Weak transcription	Psoas Muscle	Psoas
17	chr2:97376000-97382600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:97376000-97383000	Strong transcription	Primary B cells from cord blood	blood
19	chr2:97376000-97385000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:97376200-97393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:97377000-97393200	Weak transcription	HUVEC	blood vessel
23	chr2:97377000-97393200	Weak transcription	NH-A	brain
24	chr2:97377200-97393000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:97377200-97393000	Weak transcription	HSMMtube	muscle
26	chr2:97377200-97393200	Weak transcription	HMEC	breast
27	chr2:97377200-97393400	Weak transcription	Hela-S3	cervix
28	chr2:97377400-97393200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:97377400-97393200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:97377400-97393400	Weak transcription	HSMM	muscle
31	chr2:97377600-97393200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:97377600-97393200	Weak transcription	NHDF-Ad	bronchial
33	chr2:97377600-97396200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:97377600-97398000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:97377600-97398800	Weak transcription	K562	blood
36	chr2:97377600-97399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:97377800-97382000	Weak transcription	Fetal Kidney	kidney
38	chr2:97377800-97387000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:97377800-97388200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:97377800-97389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:97377800-97392000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:97377800-97392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:97377800-97392800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:97377800-97393000	Weak transcription	Gastric	stomach
45	chr2:97377800-97393200	Weak transcription	NHLF	lung
46	chr2:97377800-97396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:97377800-97396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97377800-97398800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:97378000-97382200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:97378000-97392200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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