Variant report

Variant	rs13419073
Chromosome Location	chr2:97507554-97507555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:97507463-97507861	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:97507278-97507706	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:97507365-97507738	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:97507467-97508232	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:97507480-97507621	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:97507458-97507779	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:97507436-97507811	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:97507554-97507957	K562	blood:	n/a	n/a
9	FOSL2	chr2:97507263-97508029	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:97507340-97508045	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:97507370-97510781	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:97507361-97510558	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:97507262-97508020	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr2:97507427-97507792	ProgFib	skin:	n/a	n/a
15	POLR2A	chr2:97507376-97510672	A549	lung:	n/a	n/a
16	POLR2A	chr2:97507358-97507641	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:97502726-97509008	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:97507516-97507623	A549	lung:	n/a	n/a
19	POLR2A	chr2:97507492-97507919	K562	blood:	n/a	n/a
20	POLR2A	chr2:97507408-97507864	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr2:97507280-97508611	K562	blood:	n/a	n/a
22	POLR2A	chr2:97507323-97507998	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:97507458-97507889	HCT-116	colon:	n/a	n/a
24	POLR2A	chr2:97507380-97507787	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:97507304-97510828	K562	blood:	n/a	n/a
26	POLR2A	chr2:97507332-97507637	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:97507375-97507708	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:97507294-97507850	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:97507404-97510601	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97492698..97495238-chr2:97505220..97508779,3	MCF-7	breast:
2	chr2:97506810..97509446-chr2:97509731..97511932,2	MCF-7	breast:
3	chr2:97506571..97510288-chr2:97534230..97537776,5	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD23	TF binding region
ENSG00000168758	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10203346	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10439526	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11889085	0.83[ASN][1000 genomes]
rs11897786	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12172	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12846	0.81[AMR][1000 genomes]
rs1317911	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1320146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320149	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17119562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17119564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17119591	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17119598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314399	0.83[ASN][1000 genomes]
rs3731941	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4077343	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55674661	0.81[AMR][1000 genomes]
rs56797569	0.83[ASN][1000 genomes]
rs56913233	0.83[ASN][1000 genomes]
rs57582887	0.83[ASN][1000 genomes]
rs58147284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59244622	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152765	0.83[ASN][1000 genomes]
rs62152766	0.83[ASN][1000 genomes]
rs62152767	0.83[ASN][1000 genomes]
rs62152768	0.83[ASN][1000 genomes]
rs62152770	0.83[ASN][1000 genomes]
rs62152771	0.83[ASN][1000 genomes]
rs62152772	0.83[ASN][1000 genomes]
rs62152773	0.83[ASN][1000 genomes]
rs62152774	0.83[ASN][1000 genomes]
rs62152775	0.83[ASN][1000 genomes]
rs62152777	0.88[ASN][1000 genomes]
rs62152783	0.88[ASN][1000 genomes]
rs62152784	0.82[ASN][1000 genomes]
rs62152785	0.88[ASN][1000 genomes]
rs62152786	0.86[ASN][1000 genomes]
rs62152787	0.88[ASN][1000 genomes]
rs62152788	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152790	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152793	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152794	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152795	0.83[AMR][1000 genomes]
rs62152834	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152860	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152863	0.95[EUR][1000 genomes]
rs62152864	0.95[EUR][1000 genomes]
rs62156208	0.83[ASN][1000 genomes]
rs62156209	0.83[ASN][1000 genomes]
rs62156210	0.83[ASN][1000 genomes]
rs62156211	0.83[ASN][1000 genomes]
rs62156212	0.83[ASN][1000 genomes]
rs62156213	0.83[ASN][1000 genomes]
rs62156216	0.83[ASN][1000 genomes]
rs62156219	0.83[ASN][1000 genomes]
rs62156220	0.83[ASN][1000 genomes]
rs62156221	0.83[ASN][1000 genomes]
rs62156222	0.83[ASN][1000 genomes]
rs62156223	0.83[ASN][1000 genomes]
rs62156225	0.83[ASN][1000 genomes]
rs62156226	0.83[ASN][1000 genomes]
rs62156227	0.83[ASN][1000 genomes]
rs62156228	0.83[ASN][1000 genomes]
rs62156230	0.83[ASN][1000 genomes]
rs62156231	0.83[ASN][1000 genomes]
rs62156232	0.83[ASN][1000 genomes]
rs62156233	0.83[ASN][1000 genomes]
rs62156234	0.83[ASN][1000 genomes]
rs6576981	0.83[ASN][1000 genomes]
rs6576986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576989	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6751132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6753987	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6756482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6758151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72809850	0.83[ASN][1000 genomes]
rs72811623	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811627	0.84[EUR][1000 genomes]
rs72811629	0.91[EUR][1000 genomes]
rs7568206	0.83[ASN][1000 genomes]
rs7580942	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594727	0.87[CEU][hapmap];0.85[AMR][1000 genomes]
rs7608621	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs878064	0.81[ASN][1000 genomes]
rs9948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9973492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	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
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97489400-97509000	Strong transcription	Brain Cingulate Gyrus	brain
3	chr2:97490200-97507800	Strong transcription	Brain Anterior Caudate	brain
4	chr2:97496200-97512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:97498400-97513400	Weak transcription	NHEK	skin
6	chr2:97499200-97507600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:97499200-97512400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:97499200-97512800	Weak transcription	Osteobl	bone
9	chr2:97499200-97513200	Weak transcription	Aorta	Aorta
10	chr2:97499200-97513400	Weak transcription	Small Intestine	intestine
11	chr2:97499200-97513600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97499400-97513200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:97499600-97513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:97499600-97515600	Weak transcription	HSMMtube	muscle
16	chr2:97499600-97515800	Weak transcription	Fetal Kidney	kidney
17	chr2:97499600-97522800	Weak transcription	HSMM	muscle
18	chr2:97501000-97512000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:97501000-97512400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:97501000-97513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:97501000-97520600	Weak transcription	Fetal Brain Male	brain
22	chr2:97501200-97515800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:97501200-97520600	Weak transcription	Hela-S3	cervix
24	chr2:97501800-97513200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:97502000-97513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:97503000-97507800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr2:97503200-97514400	Strong transcription	Fetal Brain Female	brain
28	chr2:97503400-97508400	Strong transcription	Brain Germinal Matrix	brain
29	chr2:97503600-97522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:97504000-97508400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:97504000-97512600	Weak transcription	A549	lung
32	chr2:97504000-97513400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:97504200-97509600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
34	chr2:97504200-97513400	Weak transcription	K562	blood
35	chr2:97504400-97507600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:97504400-97508000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr2:97504800-97508000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:97505000-97520400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:97505600-97507600	Weak transcription	Right Atrium	heart
40	chr2:97505600-97511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:97505600-97511800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:97505600-97512000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:97505600-97513200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:97505600-97515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:97505600-97521800	Strong transcription	Fetal Stomach	stomach
46	chr2:97505600-97522400	Weak transcription	NH-A	brain
47	chr2:97505800-97507600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:97505800-97507800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:97505800-97511800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:97505800-97512000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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