Variant report

Variant	rs450847
Chromosome Location	chr13:111301612-111301613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111288525-111302316	U87	brain:	n/a	n/a
2	POLR2A	chr13:111300676-111302225	K562	blood:	n/a	n/a
3	POLR2A	chr13:111301367-111301780	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr13:111300634-111301753	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr13:111300671-111301705	HL-60	blood:	n/a	n/a
6	POLR2A	chr13:111301390-111301811	GM12878	blood:	n/a	n/a
7	POLR2A	chr13:111301481-111301980	HepG2	liver:	n/a	n/a
8	POLR2A	chr13:111301498-111301741	HepG2	liver:	n/a	n/a
9	POLR2A	chr13:111301326-111301781	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:111301391-111301625	K562	blood:	n/a	n/a
11	POLR2A	chr13:111301496-111301804	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr13:111299499-111302318	U87	brain:	n/a	n/a
13	POLR2A	chr13:111301091-111302137	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr13:111301191-111302329	GM12892	blood:	n/a	n/a
15	POLR2A	chr13:111288564-111302262	U87	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111301576-111301626	T-47D	breast:	n/a
2	chr13:111301576-111301626	HCPEpiC	choroid plexus:	n/a
3	chr13:111301576-111301626	CMK	blood:	n/a
4	chr13:111301592-111301642	IMR90	lung:	fetal
5	chr13:111301592-111301642	GM12891	blood:	n/a
6	chr13:111301576-111301626	AG04450	lung:	fetal
7	chr13:111301592-111301642	Caco-2	colon:	n/a
8	chr13:111301576-111301626	HL-60	blood:	n/a
9	chr13:111301576-111301626	ECC-1	luminal epithelium:	n/a
10	chr13:111301592-111301642	MCF-7	breast:	n/a
11	chr13:111301576-111301626	A549	lung:	n/a
12	chr13:111301592-111301642	HepG2	liver:	n/a
13	chr13:111301576-111301626	HRE	kidney:	n/a
14	chr13:111301576-111301626	Hela-S3	cervix:	n/a
15	chr13:111301576-111301626	NH-A	brain:	n/a
16	chr13:111301592-111301642	HAEpiC	amniotic membrane:	n/a
17	chr13:111301592-111301642	GM12892	blood:	n/a
18	chr13:111301576-111301626	AG09309	skin:	n/a
19	chr13:111301592-111301642	HRPEpiC	eye:	n/a
20	chr13:111301576-111301626	AG10803	skin:	n/a
21	chr13:111301576-111301626	GM19239	blood:	n/a
22	chr13:111301576-111301626	H1-hESC	embryonic stem cell:	embryo
23	chr13:111301592-111301642	HCT-116	colon:	n/a
24	chr13:111301592-111301642	HRE	kidney:	n/a
25	chr13:111301592-111301642	PFSK-1	brain:	n/a
26	chr13:111301592-111301642	HPAEpiC	pulmonary alveolar:	n/a
27	chr13:111301576-111301626	HMEC	breast:	n/a
28	chr13:111301592-111301642	HCM	heart:	n/a
29	chr13:111301576-111301626	PFSK-1	brain:	n/a
30	chr13:111301592-111301642	AG04449	skin:	fetal
31	chr13:111301592-111301642	A549	lung:	n/a
32	chr13:111301576-111301626	MCF10A-Er-Src	breast:	n/a
33	chr13:111301592-111301642	Hela-S3	cervix:	n/a
34	chr13:111301592-111301642	Hepatocyte	liver:	n/a
35	chr13:111301592-111301642	NHBE	bronchial:	n/a
36	chr13:111301576-111301626	BE2_C	brain:	n/a
37	chr13:111301592-111301642	HCPEpiC	choroid plexus:	n/a
38	chr13:111301592-111301642	H1-hESC	embryonic stem cell:	embryo
39	chr13:111301576-111301626	BJ	skin:	n/a
40	chr13:111301576-111301626	SK-N-SH_RA	brain:	n/a
41	chr13:111301576-111301626	IMR90	lung:	fetal
42	chr13:111301592-111301642	MCF10A-Er-Src	breast:	n/a
43	chr13:111301592-111301642	AG10803	skin:	n/a
44	chr13:111301592-111301642	HEEpiC	esophagus:	n/a
45	chr13:111301576-111301626	GM12892	blood:	n/a
46	chr13:111301592-111301642	HMEC	breast:	n/a
47	chr13:111301576-111301626	AoSMC	blood vessel:	n/a
48	chr13:111301576-111301626	RPTEC	kidney:	n/a
49	chr13:111301592-111301642	SK-N-SH	brain:	n/a
50	chr13:111301592-111301642	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111295716..111298451-chr13:111301231..111303223,3	MCF-7	breast:
2	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
3	chr13:111300252..111302823-chr17:62160230..62162389,2	MCF-7	breast:
4	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
5	chr13:111292709..111295545-chr13:111300565..111303424,2	MCF-7	breast:
6	chr13:111299507..111301801-chr13:111367049..111369699,2	K562	blood:
7	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:

No data

Variant related genes	Relation type
CARS2	TF binding region
CARS2	CpG island
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11843815	0.82[EUR][1000 genomes]
rs13378477	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078170	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2296654	0.87[EUR][1000 genomes]
rs2296660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2477916	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2986091	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2986328	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs373373	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3818497	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs409707	0.90[CHB][hapmap]
rs425042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs450514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs451575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55845419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56353035	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56414424	0.85[EUR][1000 genomes]
rs60392862	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72485652	0.89[EUR][1000 genomes]
rs72661682	0.89[EUR][1000 genomes]
rs72661690	0.82[EUR][1000 genomes]
rs7326465	0.82[EUR][1000 genomes]
rs7984286	0.89[EUR][1000 genomes]
rs9583521	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9588224	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap]
rs9670064	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9670068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
10	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
11	nsv456120	chr13:111280002-111309617	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
12	nsv563125	chr13:111280002-111309617	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
13	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
2	chr13:111282000-111309600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:111282800-111310000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:111286200-111308400	Strong transcription	Dnd41	blood
5	chr13:111286400-111308200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:111286800-111309400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:111287400-111310200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:111287800-111309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:111289400-111312000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:111289600-111310000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:111293400-111314800	Weak transcription	HUVEC	blood vessel
12	chr13:111294000-111311800	Weak transcription	Fetal Kidney	kidney
13	chr13:111296000-111307200	Weak transcription	Hela-S3	cervix
14	chr13:111296000-111311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:111296600-111311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:111296800-111310000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:111296800-111310200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:111297000-111301800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:111297200-111302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:111297200-111302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:111297200-111307600	Weak transcription	HSMMtube	muscle
22	chr13:111297200-111310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr13:111297200-111313800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:111297400-111302000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:111297400-111302000	Weak transcription	Fetal Lung	lung
26	chr13:111297400-111302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:111297400-111303000	Weak transcription	HSMM	muscle
28	chr13:111297600-111307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr13:111297600-111310000	Strong transcription	Fetal Intestine Small	intestine
30	chr13:111297600-111314400	Strong transcription	Fetal Intestine Large	intestine
31	chr13:111297800-111302600	Weak transcription	Liver	Liver
32	chr13:111297800-111302800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:111297800-111302800	Weak transcription	Brain Anterior Caudate	brain
34	chr13:111297800-111302800	Weak transcription	NH-A	brain
35	chr13:111297800-111303200	Weak transcription	HMEC	breast
36	chr13:111297800-111304200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:111297800-111304400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:111297800-111306400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:111297800-111306800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr13:111297800-111308200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:111297800-111308400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr13:111297800-111308400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr13:111297800-111308400	Strong transcription	Lung	lung
44	chr13:111297800-111310600	Strong transcription	Fetal Stomach	stomach
45	chr13:111297800-111311400	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:111297800-111317200	Weak transcription	Colon Smooth Muscle	Colon
47	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
48	chr13:111298000-111302800	Weak transcription	Brain Angular Gyrus	brain
49	chr13:111298000-111302800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:111298000-111308400	Strong transcription	Stomach Smooth Muscle	stomach

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