Variant report

Variant	rs9568503
Chromosome Location	chr13:51644235-51644236
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	POU2F2	chr13:51644178-51644545	GM12891	blood:	n/a	n/a
2	TEAD4	chr13:51644127-51644533	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr13:51644137-51644492	K562	blood:	n/a	n/a
4	RAD21	chr13:51644130-51644654	IMR90	lung:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
5	CHD2	chr13:51644072-51644444	HepG2	liver:	n/a	n/a
6	CTCF	chr13:51644214-51644519	Kidney_OC	kidney:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
7	RAD21	chr13:51644175-51644538	A549	lung:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
8	PAX5	chr13:51644209-51644480	GM12878	blood:	n/a	n/a
9	RAD21	chr13:51643979-51644658	H1-hESC	embryonic stem cell:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
10	RAD21	chr13:51643984-51644632	HepG2	liver:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
11	RAD21	chr13:51644042-51644628	H1-hESC	embryonic stem cell:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
12	CTCF	chr13:51644223-51644549	Gliobla	brain:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
13	MAZ	chr13:51643977-51644462	HepG2	liver:	n/a	chr13:51644005-51644014
14	CTCF	chr13:51644222-51644525	HUVEC	blood vessel:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
15	CTCF	chr13:51644168-51644560	Lung_OC	lung:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
16	SMC3	chr13:51644135-51644574	HepG2	liver:	n/a	chr13:51644362-51644376
17	MAX	chr13:51644142-51644628	NB4	blood:	n/a	n/a
18	RAD21	chr13:51644115-51644506	SK-N-SH_RA	brain:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
19	CTCF	chr13:51644226-51644534	NHEK	skin:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
20	RCOR1	chr13:51644206-51644465	HepG2	liver:	n/a	n/a
21	RAD21	chr13:51644041-51644680	A549	lung:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
22	FOXM1	chr13:51644093-51644572	GM12878	blood:	n/a	n/a
23	CTCF	chr13:51644224-51644542	GM19240	blood:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
24	RAD21	chr13:51644135-51644549	K562	blood:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
25	CTCF	chr13:51644121-51644614	GM12878	blood:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
26	ZNF143	chr13:51644184-51644542	K562	blood:	n/a	n/a
27	CTCF	chr13:51644182-51644487	ECC-1	luminal epithelium:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
28	MYC	chr13:51644143-51644544	NB4	blood:	n/a	n/a
29	CTCF	chr13:51644144-51644577	K562	blood:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
30	CTCF	chr13:51643838-51644756	SK-N-SH	brain:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
31	BCLAF1	chr13:51644084-51644598	GM12878	blood:	n/a	n/a
32	CTCF	chr13:51644220-51644370	RPTEC	kidney:	n/a	chr13:51644274-51644282
33	RAD21	chr13:51643941-51644670	HCT-116	colon:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
34	RAD21	chr13:51644159-51644523	GM12878	blood:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
35	CTCF	chr13:51644117-51644601	H1-hESC	embryonic stem cell:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
36	ZNF143	chr13:51644196-51644543	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr13:51644127-51644516	T-47D	breast:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
38	MAFK	chr13:51644156-51644527	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr13:51643850-51644797	A549	lung:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
40	RAD21	chr13:51644057-51644642	MCF-7	breast:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376
41	TEAD4	chr13:51644132-51644590	H1-hESC	embryonic stem cell:	n/a	n/a
42	RFX5	chr13:51644214-51644576	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr13:51644011-51644584	IMR90	lung:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
44	CHD1	chr13:51643915-51644514	IMR90	lung:	n/a	n/a
45	RUNX3	chr13:51644161-51644573	GM12878	blood:	n/a	n/a
46	ARID3A	chr13:51644212-51644518	HepG2	liver:	n/a	n/a
47	CTCF	chr13:51644221-51644467	T-47D	breast:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
48	ZNF143	chr13:51644170-51644566	GM12878	blood:	n/a	n/a
49	FOXP2	chr13:51644193-51644504	SK-N-MC	brain:	n/a	n/a
50	RAD21	chr13:51644018-51644625	SK-N-SH_RA	brain:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376

No.	Distal block	Cell Line	Cell type
1	chr13:51643913..51644787-chr13:51694697..51695487,3	MCF-7	breast:
2	chr13:50550475..50551106-chr13:51643910..51644902,2	K562	blood:
3	chr13:51633296..51638107-chr13:51641307..51645101,5	MCF-7	breast:
4	chr13:51563313..51563988-chr13:51644056..51644911,3	MCF-7	breast:
5	chr13:51637970..51639747-chr13:51643912..51646146,3	MCF-7	breast:
6	chr13:51543587..51544485-chr13:51643944..51644712,4	MCF-7	breast:

Variant related genes	Relation type
GUCY1B2	TF binding region
ENSG00000123201	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11148205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11842080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12859216	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs12865698	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12871332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877403	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs3790015	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3790017	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3803198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs3803199	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3803200	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4606607	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71428302	0.85[EUR][1000 genomes]
rs913467	0.88[CHB][hapmap]
rs927992	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs9526717	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9563015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563017	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9563018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9563019	0.88[EUR][1000 genomes]
rs9563020	0.86[EUR][1000 genomes]
rs9568502	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568504	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568505	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51638000-51644600	Enhancers	Fetal Brain Male	brain
3	chr13:51640200-51644600	Enhancers	Fetal Heart	heart
4	chr13:51641800-51645600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:51642000-51644600	Enhancers	Fetal Lung	lung
6	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:51643600-51645400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:51643800-51644400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:51643800-51644400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:51643800-51644400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:51643800-51644400	Enhancers	Colon Smooth Muscle	Colon
13	chr13:51643800-51644600	Enhancers	Primary B cells from peripheral blood	blood
14	chr13:51643800-51644600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:51643800-51644600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:51643800-51644800	Enhancers	Primary T cells from cord blood	blood
17	chr13:51643800-51646000	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:51644000-51644400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr13:51644000-51644400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:51644000-51644400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:51644000-51644400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr13:51644000-51644400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:51644000-51644400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr13:51644000-51644400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr13:51644000-51644400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:51644000-51644400	Enhancers	Fetal Intestine Large	intestine
27	chr13:51644000-51644400	Enhancers	Fetal Intestine Small	intestine
28	chr13:51644000-51644400	Enhancers	Fetal Kidney	kidney
29	chr13:51644000-51644400	Enhancers	Fetal Muscle Leg	muscle
30	chr13:51644000-51644400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr13:51644000-51644400	Flanking Active TSS	Dnd41	blood
32	chr13:51644000-51644400	Enhancers	HSMM	muscle
33	chr13:51644000-51644400	Enhancers	K562	blood
34	chr13:51644000-51644400	Enhancers	NH-A	brain
35	chr13:51644000-51644600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:51644000-51644600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr13:51644000-51644600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr13:51644000-51644600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr13:51644000-51644600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr13:51644000-51644600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr13:51644000-51644600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:51644000-51644600	Enhancers	Brain Angular Gyrus	brain
43	chr13:51644000-51644600	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:51644000-51644600	Enhancers	Colonic Mucosa	Colon
45	chr13:51644000-51644800	Enhancers	Thymus	Thymus
46	chr13:51644000-51645800	Enhancers	Fetal Thymus	thymus
47	chr13:51644200-51644400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:51644200-51644400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr13:51644200-51644600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:51644200-51644600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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