Variant report

Variant	rs6483729
Chromosome Location	chr11:8721616-8721617
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	POLR2A	chr11:8721406-8721645	Hela-S3	cervix:	n/a	n/a
2	TEAD4	chr11:8721319-8721793	H1-hESC	embryonic stem cell:	n/a	chr11:8721539-8721548
3	TEAD4	chr11:8721302-8721895	HepG2	liver:	n/a	chr11:8721539-8721548
4	MAX	chr11:8721439-8721872	SK-N-SH	brain:	n/a	chr11:8721610-8721620
5	RXRA	chr11:8721401-8721837	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:8720103-8722012	K562	blood:	n/a	n/a
7	RAD21	chr11:8721472-8721715	HepG2	liver:	n/a	chr11:8721609-8721619
8	TCF12	chr11:8721114-8721882	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr11:8721488-8722050	HepG2	liver:	n/a	n/a
10	RFX5	chr11:8721276-8721852	HepG2	liver:	n/a	n/a
11	MAX	chr11:8721436-8721766	NB4	blood:	n/a	chr11:8721610-8721620
12	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:8720086-8722180	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr11:8721545-8721866	HepG2	liver:	n/a	chr11:8721610-8721620
15	RAD21	chr11:8721403-8721773	SK-N-SH_RA	brain:	n/a	chr11:8721609-8721619
16	POLR2A	chr11:8721330-8721705	HCT-116	colon:	n/a	n/a
17	SMC3	chr11:8721473-8721706	HepG2	liver:	n/a	n/a
18	ELF1	chr11:8721457-8721784	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:8721192-8721842	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr11:8721359-8721837	HepG2	liver:	n/a	n/a
21	RAD21	chr11:8721449-8721795	HepG2	liver:	n/a	chr11:8721609-8721619
22	POLR2A	chr11:8719782-8722199	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr11:8721472-8721764	HepG2	liver:	n/a	chr11:8721610-8721620
24	EP300	chr11:8721395-8721723	SK-N-SH_RA	brain:	n/a	n/a
25	TCF12	chr11:8721359-8721673	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:8716661-8722311	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:8721412-8721870	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:8721389-8721702	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:8721574-8721619	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:8718535-8722277	Hela-S3	cervix:	n/a	n/a
31	TEAD4	chr11:8721233-8721723	H1-hESC	embryonic stem cell:	n/a	chr11:8721539-8721548
32	EP300	chr11:8721399-8721671	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr11:8720661-8721874	H1-hESC	embryonic stem cell:	n/a	n/a
34	EBF1	chr11:8721497-8721756	GM12878	blood:	n/a	n/a
35	MYBL2	chr11:8721393-8721955	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:8721287-8721792	K562	blood:	n/a	n/a
37	POLR2A	chr11:8718876-8722220	Hela-S3	cervix:	n/a	n/a
38	MYC	chr11:8721493-8721827	NB4	blood:	n/a	chr11:8721610-8721620
39	MAZ	chr11:8721373-8721786	HepG2	liver:	n/a	chr11:8721610-8721620
40	TCF12	chr11:8721491-8721656	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr11:8721519-8721883	HepG2	liver:	n/a	n/a
42	EP300	chr11:8721354-8721814	HepG2	liver:	n/a	n/a
43	RCOR1	chr11:8721459-8722184	HepG2	liver:	n/a	n/a
44	HSF1	chr11:8721415-8721881	HepG2	liver:	n/a	chr11:8721660-8721675
45	TEAD4	chr11:8721312-8721824	ECC-1	luminal epithelium:	n/a	chr11:8721539-8721548
46	CEBPB	chr11:8721459-8722001	HepG2	liver:	n/a	n/a
47	MAX	chr11:8721210-8722039	HepG2	liver:	n/a	chr11:8721610-8721620
48	MAX	chr11:8721261-8721990	HepG2	liver:	n/a	chr11:8721610-8721620
49	TEAD4	chr11:8721290-8721745	ECC-1	luminal epithelium:	n/a	chr11:8721539-8721548
50	POLR2A	chr11:8716731-8722284	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8715747..8718596-chr11:8720024..8721952,2	MCF-7	breast:
2	chr11:8719120..8722068-chr11:8726916..8729011,2	MCF-7	breast:
3	chr11:8720788..8722989-chr11:8731046..8732661,2	MCF-7	breast:
4	chr11:8720712..8722850-chr11:8760590..8762242,2	K562	blood:
5	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:
6	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

rs_ID	r²[population]
rs10840109	0.86[ASN][1000 genomes]
rs10840110	0.86[ASN][1000 genomes]
rs3752849	0.84[ASN][1000 genomes]
rs4670	0.84[ASN][1000 genomes]
rs6483727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933677	0.89[ASN][1000 genomes]
rs7941844	0.89[ASN][1000 genomes]

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
3	chr11:8712800-8721800	Strong transcription	Fetal Stomach	stomach
4	chr11:8713000-8722000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr11:8713200-8730000	Strong transcription	Liver	Liver
6	chr11:8713600-8723400	Strong transcription	Esophagus	oesophagus
7	chr11:8714000-8722000	Strong transcription	Aorta	Aorta
8	chr11:8715400-8721800	Weak transcription	Psoas Muscle	Psoas
9	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:8716200-8722000	Weak transcription	K562	blood
11	chr11:8716200-8725000	Weak transcription	Fetal Brain Male	brain
12	chr11:8716800-8722000	Strong transcription	Colonic Mucosa	Colon
13	chr11:8718400-8722200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:8719000-8721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:8719400-8728600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:8719600-8724000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
18	chr11:8719800-8722200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:8719800-8722200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:8719800-8722200	Enhancers	Pancreas	Pancrea
21	chr11:8719800-8724200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:8720000-8722200	Genic enhancers	Stomach Mucosa	stomach
23	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
24	chr11:8720200-8721800	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr11:8720200-8722000	Enhancers	A549	lung
26	chr11:8720200-8722200	Genic enhancers	Gastric	stomach
27	chr11:8720200-8722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:8720200-8722800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:8720200-8722800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:8720200-8724000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:8720400-8721800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:8720400-8721800	Genic enhancers	Left Ventricle	heart
34	chr11:8720400-8722200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:8720400-8722200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:8720400-8722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8720400-8722600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:8720400-8722600	Genic enhancers	Spleen	Spleen
39	chr11:8720400-8722800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:8720400-8722800	Enhancers	Brain Substantia Nigra	brain
41	chr11:8720400-8723400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:8720400-8723800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:8720400-8728800	Weak transcription	Fetal Heart	heart
44	chr11:8720600-8721800	Enhancers	HMEC	breast
45	chr11:8720600-8722200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:8720600-8722200	Genic enhancers	HSMMtube	muscle
47	chr11:8720600-8722400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:8720600-8722600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:8720600-8723000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:8720600-8723800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links