Variant report

Variant	rs61747714
Chromosome Location	chr8:67342257-67342258
allele	A/G
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	MAZ	chr8:67342193-67342370	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:67341048-67342604	PBDE	blood:	n/a	n/a
3	CTCF	chr8:67342200-67342350	HCM	heart:	n/a	n/a
4	E2F6	chr8:67342241-67342381	K562	blood:	n/a	n/a
5	MAX	chr8:67340905-67342438	K562	blood:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
6	RCOR1	chr8:67340131-67343104	IMR90	lung:	n/a	n/a
7	KAP1	chr8:67342196-67342648	HEK293	kidney:	n/a	n/a
8	POLR2A	chr8:67341981-67342506	IMR90	lung:	n/a	n/a
9	CTCF	chr8:67342180-67342330	HRE	kidney:	n/a	n/a
10	ZNF263	chr8:67341113-67342684	HEK293-T-REx	kidney:	n/a	chr8:67342273-67342294 chr8:67342244-67342265
11	SIN3A	chr8:67340551-67343021	H1-hESC	embryonic stem cell:	n/a	chr8:67340971-67340984 chr8:67341010-67341023
12	PML	chr8:67340775-67342296	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:67340347-67342470	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr8:67340948-67342472	Raji	blood:	n/a	n/a
15	MAX	chr8:67340411-67342740	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
16	POLR2A	chr8:67340452-67342272	K562	blood:	n/a	n/a
17	MAX	chr8:67340811-67342296	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
18	YY1	chr8:67341816-67342268	K562	blood:	n/a	n/a
19	SIN3AK20	chr8:67340831-67342514	HCT-116	colon:	n/a	n/a
20	MAZ	chr8:67340009-67342628	IMR90	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
21	POLR2A	chr8:67340714-67342584	GM18505	blood:	n/a	n/a
22	HCFC1	chr8:67341860-67342516	K562	blood:	n/a	n/a
23	SMARCB1	chr8:67340506-67342379	Hela-S3	cervix:	n/a	chr8:67341062-67341071
24	MAX	chr8:67340869-67342544	MCF-7	breast:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
25	TCF12	chr8:67340478-67342816	A549	lung:	n/a	n/a
26	CTCF	chr8:67342240-67342390	HCT-116	colon:	n/a	n/a
27	RCOR1	chr8:67341853-67342396	K562	blood:	n/a	n/a
28	RCOR1	chr8:67342065-67342444	K562	blood:	n/a	n/a
29	POLR2A	chr8:67340703-67342437	HepG2	liver:	n/a	n/a
30	CHD1	chr8:67340160-67343807	IMR90	lung:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
31	CTCF	chr8:67340062-67342742	SK-N-SH	brain:	n/a	chr8:67340979-67340989 chr8:67340978-67340991
32	CTCF	chr8:67341816-67342345	K562	blood:	n/a	n/a
33	CTCF	chr8:67342140-67342290	AG10803	skin:	n/a	n/a
34	MAX	chr8:67340826-67342417	HCT-116	colon:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
35	CTCF	chr8:67341881-67342257	T-47D	breast:	n/a	n/a
36	POLR2A	chr8:67340996-67342263	Hela-S3	cervix:	n/a	n/a
37	MAX	chr8:67340947-67342563	NB4	blood:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
38	POLR2A	chr8:67340892-67342387	K562	blood:	n/a	n/a
39	CHD2	chr8:67342185-67342385	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr8:67340651-67342598	Hela-S3	cervix:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
41	MXI1	chr8:67340887-67342431	HepG2	liver:	n/a	chr8:67341277-67341286
42	POLR2A	chr8:67341801-67342665	PFSK-1	brain:	n/a	n/a
43	SIN3AK20	chr8:67340546-67342284	PANC-1	pancreas:	n/a	n/a
44	TAF1	chr8:67340927-67342401	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr8:67342211-67342311	HepG2	liver:	n/a	n/a
46	MAX	chr8:67340939-67342389	H1-hESC	embryonic stem cell:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
47	TBP	chr8:67341995-67342343	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr8:67340900-67342499	HL-60	blood:	n/a	n/a
49	MYC	chr8:67340097-67342533	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
50	TAF1	chr8:67341946-67342395	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
2	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
3	chr8:67088502..67091443-chr8:67341463..67343865,2	MCF-7	breast:
4	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region
ENSG00000246145	TF binding region
ENSG00000147571	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12545483	0.91[EUR][1000 genomes]
rs34077648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58055402	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59339037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511162	1.00[AMR][1000 genomes]
rs62511166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511173	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511184	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62511215	1.00[EUR][1000 genomes]
rs62511946	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511951	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472272	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014297	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846153	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67340200-67342800	Active TSS	Fetal Kidney	kidney
3	chr8:67340200-67342800	Active TSS	Thymus	Thymus
4	chr8:67340200-67343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:67340200-67343400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:67340200-67343600	Active TSS	Hela-S3	cervix
7	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:67340200-67345200	Active TSS	NHLF	lung
9	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
12	chr8:67340200-67345400	Active TSS	Right Atrium	heart
13	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:67340400-67342400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:67340400-67342400	Active TSS	Aorta	Aorta
17	chr8:67340400-67342400	Active TSS	Fetal Lung	lung
18	chr8:67340400-67342600	Active TSS	Esophagus	oesophagus
19	chr8:67340400-67342600	Active TSS	Gastric	stomach
20	chr8:67340400-67342600	Active TSS	Lung	lung
21	chr8:67340400-67342600	Active TSS	Osteobl	bone
22	chr8:67340400-67342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:67340400-67343000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr8:67340400-67343400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:67340400-67343400	Active TSS	Fetal Intestine Small	intestine
26	chr8:67340400-67343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:67340400-67345000	Active TSS	HepG2	liver
30	chr8:67340400-67345000	Active TSS	HSMMtube	muscle
31	chr8:67340400-67345200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:67340400-67345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:67340400-67345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:67340400-67345400	Active TSS	Ovary	ovary
35	chr8:67340400-67345400	Active TSS	Psoas Muscle	Psoas
36	chr8:67340400-67345400	Active TSS	Right Ventricle	heart
37	chr8:67340400-67345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:67340600-67342400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:67340600-67342400	Active TSS	Fetal Heart	heart
40	chr8:67340600-67342800	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr8:67340600-67342800	Active TSS	Stomach Mucosa	stomach
42	chr8:67340600-67343000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:67340600-67343000	Active TSS	Small Intestine	intestine
44	chr8:67340600-67343000	Active TSS	HSMM	muscle
45	chr8:67340600-67343400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:67340600-67343400	Active TSS	NHDF-Ad	bronchial
47	chr8:67340600-67344200	Active TSS	K562	blood
48	chr8:67340600-67344800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:67340600-67345000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:67340600-67345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links