Variant report

Variant	rs8000294
Chromosome Location	chr13:111297404-111297405
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	TCF12	chr13:111297276-111297468	GM12878	blood:	n/a	n/a
2	FOXM1	chr13:111297149-111297566	GM12878	blood:	n/a	n/a
3	CTCF	chr13:111297300-111297450	Hela-S3	cervix:	n/a	chr13:111297321-111297342
4	MXI1	chr13:111297248-111297740	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:111297300-111297450	GM12801	blood:	n/a	chr13:111297321-111297342
6	CTCF	chr13:111297260-111297410	NHDF-neo	bronchial:	n/a	chr13:111297321-111297342
7	POLR2A	chr13:111296896-111297524	K562	blood:	n/a	n/a
8	CTCF	chr13:111297260-111297410	GM12873	blood:	n/a	chr13:111297321-111297342
9	POLR2A	chr13:111296763-111297898	MCF-7	breast:	n/a	n/a
10	POLR2A	chr13:111296835-111297964	GM12878	blood:	n/a	n/a
11	RAD21	chr13:111297224-111297447	Hela-S3	cervix:	n/a	chr13:111297321-111297335
12	CTCF	chr13:111297280-111297430	HRE	kidney:	n/a	chr13:111297321-111297342
13	SP4	chr13:111297156-111297630	H1-hESC	embryonic stem cell:	n/a	chr13:111297520-111297536
14	CTCF	chr13:111297260-111297410	GM12866	blood:	n/a	chr13:111297321-111297342
15	CTCF	chr13:111297280-111297430	HBMEC	blood vessel:	n/a	chr13:111297321-111297342
16	CTCF	chr13:111297260-111297410	AG04449	skin:	n/a	chr13:111297321-111297342
17	RAD21	chr13:111297178-111297789	MCF-7	breast:	n/a	chr13:111297321-111297335 chr13:111297603-111297617
18	POLR2A	chr13:111297364-111297681	GM12891	blood:	n/a	n/a
19	TCF3	chr13:111297249-111297569	GM12878	blood:	n/a	n/a
20	CHD1	chr13:111297274-111297466	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr13:111297260-111297410	HMEC	breast:	n/a	chr13:111297321-111297342
22	CTCF	chr13:111297191-111297471	GM19238	blood:	n/a	chr13:111297321-111297342
23	MTA3	chr13:111296835-111298357	GM12878	blood:	n/a	n/a
24	RAD21	chr13:111297228-111297417	SK-N-SH_RA	brain:	n/a	chr13:111297321-111297335
25	MYC	chr13:111297384-111297406	MCF-7	breast:	n/a	n/a
26	CTCF	chr13:111297260-111297410	HEEpiC	esophagus:	n/a	chr13:111297321-111297342
27	CTCF	chr13:111297280-111297430	BE2_C	brain:	n/a	chr13:111297321-111297342
28	CTCF	chr13:111297233-111297728	MCF-7	breast:	n/a	chr13:111297321-111297342 chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
29	POLR2A	chr13:111286846-111300127	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr13:111297260-111297410	HUVEC	blood vessel:	n/a	chr13:111297321-111297342
31	POLR2A	chr13:111290793-111300178	K562	blood:	n/a	n/a
32	NFATC1	chr13:111296885-111297949	GM12878	blood:	n/a	n/a
33	POLR2A	chr13:111296688-111297836	GM12878	blood:	n/a	n/a
34	POLR2A	chr13:111288525-111302316	U87	brain:	n/a	n/a
35	POLR2A	chr13:111296991-111297909	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr13:111297005-111297508	GM12878	blood:	n/a	n/a
37	CTCF	chr13:111297280-111297430	AG09319	gingival:	n/a	chr13:111297321-111297342
38	GABPA	chr13:111297160-111297564	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr13:111297280-111297430	BJ	skin:	n/a	chr13:111297321-111297342
40	MYC	chr13:111297049-111297756	H1-hESC	embryonic stem cell:	n/a	chr13:111297586-111297595 chr13:111297584-111297594
41	EBF1	chr13:111297262-111297566	GM12878	blood:	n/a	n/a
42	MAX	chr13:111296974-111297913	H1-hESC	embryonic stem cell:	n/a	chr13:111297586-111297595 chr13:111297584-111297594 chr13:111297758-111297767
43	POLR2A	chr13:111297111-111297995	ECC-1	luminal epithelium:	n/a	n/a
44	RAD21	chr13:111297259-111297462	HepG2	liver:	n/a	chr13:111297321-111297335
45	CTCF	chr13:111297177-111297724	IMR90	lung:	n/a	chr13:111297321-111297342 chr13:111297601-111297614 chr13:111297601-111297614 chr13:111297606-111297614
46	RAD21	chr13:111297140-111297644	MCF-7	breast:	n/a	chr13:111297321-111297335 chr13:111297603-111297617
47	CTCF	chr13:111297260-111297410	NHEK	skin:	n/a	chr13:111297321-111297342
48	SMC3	chr13:111297187-111297640	Hela-S3	cervix:	n/a	chr13:111297601-111297611 chr13:111297601-111297615 chr13:111297607-111297615
49	RAD21	chr13:111297126-111297753	H1-hESC	embryonic stem cell:	n/a	chr13:111297321-111297335 chr13:111297603-111297617
50	CTCF	chr13:111297300-111297450	NB4	blood:	n/a	chr13:111297321-111297342

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111297400-111297450	GM12892	blood:	n/a
2	chr13:111297400-111297450	HepG2	liver:	n/a
3	chr13:111297400-111297450	HRPEpiC	eye:	n/a
4	chr13:111297400-111297450	SK-N-MC	brain:	n/a
5	chr13:111297400-111297450	HUVEC	blood vessel:	n/a
6	chr13:111297400-111297450	Jurkat	blood:	n/a
7	chr13:111297400-111297450	Caco-2	colon:	n/a
8	chr13:111297400-111297450	IMR90	lung:	fetal
9	chr13:111297400-111297450	AG09309	skin:	n/a
10	chr13:111297400-111297450	PANC-1	pancreas:	n/a
11	chr13:111297400-111297450	RPTEC	kidney:	n/a
12	chr13:111297400-111297450	NHBE	bronchial:	n/a
13	chr13:111297400-111297450	HCF	heart:	n/a
14	chr13:111297400-111297450	HNPCEpiC	eye:	n/a
15	chr13:111297400-111297450	AoSMC	blood vessel:	n/a
16	chr13:111297400-111297450	HCT-116	colon:	n/a
17	chr13:111297400-111297450	HEEpiC	esophagus:	n/a
18	chr13:111297400-111297450	Hela-S3	cervix:	n/a
19	chr13:111297400-111297450	AG04450	lung:	fetal
20	chr13:111297400-111297450	PFSK-1	brain:	n/a
21	chr13:111297400-111297450	MCF-7	breast:	n/a
22	chr13:111297400-111297450	ECC-1	luminal epithelium:	n/a
23	chr13:111297400-111297450	Hepatocyte	liver:	n/a
24	chr13:111297400-111297450	NT2-D1	testis:	n/a
25	chr13:111297400-111297450	SK-N-SH_RA	brain:	n/a
26	chr13:111297400-111297450	NB4	blood:	n/a
27	chr13:111297400-111297450	HRCEpiC	kidney:	n/a
28	chr13:111297400-111297450	MCF10A-Er-Src	breast:	n/a
29	chr13:111297400-111297450	BE2_C	brain:	n/a
30	chr13:111297400-111297450	U87	brain:	n/a
31	chr13:111297400-111297450	AG10803	skin:	n/a
32	chr13:111297400-111297450	A549	lung:	n/a
33	chr13:111297400-111297450	GM12878	blood:	n/a
34	chr13:111297400-111297450	BJ	skin:	n/a
35	chr13:111297400-111297450	H1-hESC	embryonic stem cell:	embryo
36	chr13:111297400-111297450	SK-N-SH	brain:	n/a
37	chr13:111297400-111297450	HCPEpiC	choroid plexus:	n/a
38	chr13:111297400-111297450	HL-60	blood:	n/a
39	chr13:111297400-111297450	HRE	kidney:	n/a
40	chr13:111297400-111297450	GM06990	blood:	n/a
41	chr13:111297400-111297450	SAEC	small airway:	n/a
42	chr13:111297400-111297450	HIPEpiC	eye:	n/a
43	chr13:111297400-111297450	SKMC	muscle:	n/a
44	chr13:111297400-111297450	GM19239	blood:	n/a
45	chr13:111297400-111297450	HCM	heart:	n/a
46	chr13:111297400-111297450	AG04449	skin:	fetal
47	chr13:111297400-111297450	LNCaP	prostate:	n/a
48	chr13:111297400-111297450	GM12891	blood:	n/a
49	chr13:111297400-111297450	T-47D	breast:	n/a
50	chr13:111297400-111297450	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111107824..111108748-chr13:111297271..111297854,2	MCF-7	breast:
2	chr13:111266678..111269187-chr13:111295319..111298212,3	MCF-7	breast:
3	chr13:111266944..111268705-chr13:111296076..111298471,2	K562	blood:
4	chr13:111295643..111300120-chr13:111365518..111369026,8	MCF-7	breast:
5	chr13:111296887..111299817-chr13:111365376..111368411,4	MCF-7	breast:
6	chr13:111297109..111298768-chr13:111365572..111368457,2	K562	blood:
7	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
8	chr13:111266655..111268705-chr13:111294879..111298471,3	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
CARS2	CpG island
ENSG00000213995	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2986322	0.85[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs330571	0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs369676	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs386109	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs389656	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs409707	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs410049	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs416552	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs440500	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs444748	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7985098	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs9555724	0.87[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking 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	17 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8000294	CARKD	cis	Whole Blood	GTEx
rs8000294	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr13:111286000-111298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:111286200-111299600	Strong transcription	Placenta	Placenta
6	chr13:111286200-111308400	Strong transcription	Dnd41	blood
7	chr13:111286400-111299800	Strong transcription	HepG2	liver
8	chr13:111286400-111300400	Strong transcription	Thymus	Thymus
9	chr13:111286400-111308200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:111286800-111309400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:111287200-111298400	Strong transcription	A549	lung
12	chr13:111287400-111310200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:111287800-111309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:111289400-111312000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:111289600-111298800	Strong transcription	NHEK	skin
16	chr13:111289600-111310000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:111290800-111298400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:111292600-111297800	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr13:111293000-111297800	Genic enhancers	Fetal Muscle Leg	muscle
20	chr13:111293400-111314800	Weak transcription	HUVEC	blood vessel
21	chr13:111294000-111300200	Weak transcription	K562	blood
22	chr13:111294000-111311800	Weak transcription	Fetal Kidney	kidney
23	chr13:111295400-111297800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:111295800-111297600	Weak transcription	NH-A	brain
25	chr13:111296000-111307200	Weak transcription	Hela-S3	cervix
26	chr13:111296000-111311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:111296200-111297800	Genic enhancers	NHLF	lung
28	chr13:111296400-111297800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr13:111296400-111298000	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr13:111296400-111301600	Weak transcription	Aorta	Aorta
31	chr13:111296600-111297800	Genic enhancers	Colon Smooth Muscle	Colon
32	chr13:111296600-111300600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:111296600-111300800	Weak transcription	Esophagus	oesophagus
34	chr13:111296600-111311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:111296800-111297600	Genic enhancers	Fetal Brain Female	brain
36	chr13:111296800-111297600	Genic enhancers	NHDF-Ad	bronchial
37	chr13:111296800-111297800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:111296800-111297800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:111296800-111297800	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr13:111296800-111297800	Enhancers	Brain Germinal Matrix	brain
41	chr13:111296800-111297800	Genic enhancers	Brain Substantia Nigra	brain
42	chr13:111296800-111297800	Genic enhancers	Fetal Stomach	stomach
43	chr13:111296800-111297800	Enhancers	Pancreas	Pancrea
44	chr13:111296800-111297800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr13:111296800-111298000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:111296800-111298000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:111296800-111298000	Enhancers	Primary B cells from cord blood	blood
48	chr13:111296800-111298000	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr13:111296800-111298000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:111296800-111298000	Genic enhancers	Brain Hippocampus Middle	brain

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