Variant report

Variant	rs867444
Chromosome Location	chr1:214502160-214502161
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	CTCF	chr1:214501889-214502647	HCT-116	colon:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
2	CTCF	chr1:214502067-214502558	H1-hESC	embryonic stem cell:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
3	SIN3A	chr1:214502119-214502536	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr1:214502070-214502612	ECC-1	luminal epithelium:	n/a	chr1:214502345-214502364
5	RAD21	chr1:214502037-214502671	ECC-1	luminal epithelium:	n/a	chr1:214502345-214502364
6	RAD21	chr1:214502055-214502574	H1-hESC	embryonic stem cell:	n/a	chr1:214502345-214502364
7	CTCF	chr1:214502152-214502616	MCF-7	breast:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
8	RAD21	chr1:214502119-214502552	GM12878	blood:	n/a	chr1:214502345-214502364
9	CTCF	chr1:214502150-214502523	T-47D	breast:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
10	CTCF	chr1:214502003-214502689	HCT-116	colon:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
11	ZNF143	chr1:214502160-214502502	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:214502153-214502512	ECC-1	luminal epithelium:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
13	CTCF	chr1:214502012-214502505	A549	lung:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
14	RAD21	chr1:214501999-214502603	H1-hESC	embryonic stem cell:	n/a	chr1:214502345-214502364
15	TCF12	chr1:214502111-214502439	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBL1XR1	chr1:214502139-214502475	GM12878	blood:	n/a	n/a
17	ZNF143	chr1:214502160-214502547	GM12878	blood:	n/a	n/a
18	CTCF	chr1:214502100-214502530	HepG2	liver:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
19	CREB1	chr1:214502126-214502414	A549	lung:	n/a	n/a
20	CTCF	chr1:214502158-214502470	K562	blood:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
21	CTCF	chr1:214501816-214503223	SK-N-SH	brain:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
22	RAD21	chr1:214502081-214502546	HepG2	liver:	n/a	chr1:214502345-214502364
23	CTCF	chr1:214502158-214502535	A549	lung:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
24	RAD21	chr1:214502053-214502642	A549	lung:	n/a	chr1:214502345-214502364
25	RAD21	chr1:214502089-214502585	Hela-S3	cervix:	n/a	chr1:214502345-214502364
26	TEAD4	chr1:214502118-214502503	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr1:214501921-214502740	HCT-116	colon:	n/a	chr1:214502345-214502364
28	RAD21	chr1:214501942-214502655	H1-hESC	embryonic stem cell:	n/a	chr1:214502345-214502364
29	RAD21	chr1:214501924-214502692	HCT-116	colon:	n/a	chr1:214502345-214502364
30	POLR2A	chr1:214502159-214502449	HCT-116	colon:	n/a	n/a
31	TAF7	chr1:214502111-214502524	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr1:214502113-214502563	HepG2	liver:	n/a	chr1:214502345-214502364
33	RAD21	chr1:214502128-214502534	GM12878	blood:	n/a	chr1:214502345-214502364
34	CTCF	chr1:214502031-214502600	K562	blood:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
35	CTCF	chr1:214502090-214502571	K562	blood:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
36	RAD21	chr1:214502115-214502506	MCF-7	breast:	n/a	chr1:214502345-214502364
37	FOXA1	chr1:214502145-214502488	T-47D	breast:	n/a	n/a
38	CTCF	chr1:214502035-214502573	MCF-7	breast:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
39	CTCF	chr1:214502130-214502461	A549	lung:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
40	BHLHE40	chr1:214502157-214502536	K562	blood:	n/a	n/a
41	SMC3	chr1:214501654-214502610	Hela-S3	cervix:	n/a	chr1:214502349-214502363
42	RAD21	chr1:214501467-214502977	SK-N-SH	brain:	n/a	chr1:214502345-214502364 chr1:214502918-214502931
43	RAD21	chr1:214501833-214502719	A549	lung:	n/a	chr1:214502345-214502364
44	POLR2A	chr1:214501910-214502738	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr1:214502147-214502533	K562	blood:	n/a	chr1:214502345-214502364
46	CTCF	chr1:214502150-214502535	ECC-1	luminal epithelium:	n/a	chr1:214502342-214502363 chr1:214502348-214502364 chr1:214502347-214502365
47	POLR2A	chr1:214502131-214502525	K562	blood:	n/a	n/a
48	RAD21	chr1:214502109-214502523	GM12878	blood:	n/a	chr1:214502345-214502364
49	MAFK	chr1:214502145-214502407	HepG2	liver:	n/a	n/a
50	RAD21	chr1:214502064-214502623	MCF-7	breast:	n/a	chr1:214502345-214502364

No.	Distal block	Cell Line	Cell type
1	chr1:214386976..214387975-chr1:214501809..214503178,11	K562	blood:
2	chr1:214453184..214455747-chr1:214500847..214503012,3	MCF-7	breast:
3	chr1:214456940..214458868-chr1:214501430..214504158,3	MCF-7	breast:
4	chr1:214403256..214403803-chr1:214501877..214502432,2	K562	blood:
5	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
6	chr1:214434477..214435598-chr1:214501707..214502889,10	K562	blood:
7	chr1:214433439..214435482-chr1:214501179..214503791,4	MCF-7	breast:
8	chr1:214438920..214441731-chr1:214500840..214502748,3	K562	blood:
9	chr1:214452770..214454966-chr1:214501326..214503296,2	K562	blood:
10	chr1:214434228..214435551-chr1:214501884..214502584,5	MCF-7	breast:
11	chr1:214444426..214445515-chr1:214501922..214502914,3	K562	blood:
12	chr1:214458746..214461007-chr1:214501650..214503676,2	MCF-7	breast:
13	chr1:214387026..214387919-chr1:214501866..214502781,6	MCF-7	breast:
14	chr1:214387370..214387929-chr1:214502023..214502841,3	MCF-7	breast:

Variant related genes	Relation type
SMYD2	TF binding region
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10465696	0.90[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465697	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120299	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120300	0.83[AMR][1000 genomes]
rs11800749	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073421	1.00[ASN][1000 genomes]
rs1391553	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498364	1.00[ASN][1000 genomes]
rs17022608	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730755	1.00[JPT][hapmap]
rs17731174	1.00[JPT][hapmap]
rs17786949	1.00[JPT][hapmap]
rs2047445	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35949806	1.00[ASN][1000 genomes]
rs3767842	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655243	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655244	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655246	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4655330	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655332	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655333	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655334	1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4655336	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760458	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59864830	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660335	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687629	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6695148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412913	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs867445	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867446	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904321	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308435	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9430131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430133	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955920	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs958304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214471000-214517400	Weak transcription	Fetal Kidney	kidney
2	chr1:214477400-214506400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:214477400-214506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:214477400-214511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:214479000-214503000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:214482200-214510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:214484400-214510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:214484800-214507800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:214485000-214506400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:214485000-214513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
13	chr1:214487400-214502600	Weak transcription	Colonic Mucosa	Colon
14	chr1:214487400-214509400	Strong transcription	Primary T cells from cord blood	blood
15	chr1:214487600-214506200	Weak transcription	Small Intestine	intestine
16	chr1:214487800-214510600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:214488200-214517600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
19	chr1:214488800-214510600	Weak transcription	Fetal Brain Male	brain
20	chr1:214489400-214506200	Weak transcription	A549	lung
21	chr1:214489400-214506600	Weak transcription	Ovary	ovary
22	chr1:214490200-214502400	Weak transcription	Placenta	Placenta
23	chr1:214490400-214502400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:214490800-214518200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:214491000-214503400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:214491600-214506000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:214492600-214502200	Weak transcription	Pancreas	Pancrea
28	chr1:214492600-214502400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:214492600-214502400	Weak transcription	HSMMtube	muscle
30	chr1:214492800-214502800	Weak transcription	Thymus	Thymus
31	chr1:214492800-214509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:214493000-214502400	Weak transcription	NHDF-Ad	bronchial
33	chr1:214493000-214502400	Weak transcription	Osteobl	bone
34	chr1:214493000-214502600	Weak transcription	Esophagus	oesophagus
35	chr1:214493000-214505400	Weak transcription	HMEC	breast
36	chr1:214493000-214510600	Weak transcription	Aorta	Aorta
37	chr1:214493000-214519800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:214493200-214502400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:214493200-214502600	Weak transcription	Gastric	stomach
41	chr1:214493200-214502600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:214493200-214502800	Weak transcription	Fetal Brain Female	brain
43	chr1:214493200-214503200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:214493400-214502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:214493400-214508600	Strong transcription	HepG2	liver
46	chr1:214493800-214519000	Weak transcription	Fetal Thymus	thymus
47	chr1:214494400-214503200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:214494600-214502400	Weak transcription	HSMM	muscle
49	chr1:214495000-214502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:214495400-214507400	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links