Variant report

Variant	rs72557994
Chromosome Location	chr11:66139640-66139641
allele	C/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	chr11:66138636-66140185	HCT-116	colon:	n/a	n/a
2	POLR2A	chr11:66138953-66140036	HCT-116	colon:	n/a	n/a
3	HDAC2	chr11:66139443-66139763	HepG2	liver:	n/a	n/a
4	MAX	chr11:66139120-66139776	K562	blood:	n/a	chr11:66139400-66139410
5	MAX	chr11:66138359-66140171	ECC-1	luminal epithelium:	n/a	chr11:66138849-66138859 chr11:66139400-66139410 chr11:66138998-66139008
6	HCFC1	chr11:66138437-66139685	K562	blood:	n/a	n/a
7	MAX	chr11:66138316-66140447	MCF-7	breast:	n/a	chr11:66138849-66138859 chr11:66139400-66139410 chr11:66138998-66139008
8	SMARCB1	chr11:66138434-66139761	Hela-S3	cervix:	n/a	chr11:66138934-66138943
9	YY1	chr11:66138285-66139748	K562	blood:	n/a	chr11:66139391-66139402 chr11:66139618-66139629 chr11:66138834-66138848 chr11:66139439-66139448
10	POLR2A	chr11:66138495-66140241	MCF-7	breast:	n/a	n/a
11	EGR1	chr11:66138427-66140449	HCT-116	colon:	n/a	chr11:66139411-66139424 chr11:66138920-66138944 chr11:66139414-66139424 chr11:66138835-66138846 chr11:66139411-66139424 chr11:66139149-66139162 chr11:66139414-66139423 chr11:66139450-66139464 chr11:66139411-66139424 chr11:66138835-66138845 chr11:66138831-66138845 chr11:66139412-66139426 chr11:66139411-66139425 chr11:66139435-66139449 chr11:66139411-66139424 chr11:66139413-66139423
12	POLR2A	chr11:66138485-66140186	K562	blood:	n/a	n/a
13	GABPA	chr11:66138542-66139775	K562	blood:	n/a	n/a
14	MAX	chr11:66138447-66140306	Hela-S3	cervix:	n/a	chr11:66138849-66138859 chr11:66139400-66139410 chr11:66138998-66139008
15	ELF1	chr11:66139233-66140198	K562	blood:	n/a	chr11:66139307-66139319
16	HA-E2F1	chr11:66138562-66139840	Hela-S3	cervix:	n/a	chr11:66138848-66138860
17	NR2F2	chr11:66138215-66140563	K562	blood:	n/a	n/a
18	CTCF	chr11:66139520-66139670	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr11:66139602-66140069	HepG2	liver:	n/a	n/a
20	E2F6	chr11:66139393-66139960	A549	lung:	n/a	n/a
21	POLR2A	chr11:66138415-66140137	ECC-1	luminal epithelium:	n/a	n/a
22	E2F4	chr11:66138876-66139804	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr11:66138427-66140569	HCT-116	colon:	n/a	chr11:66139411-66139424 chr11:66138920-66138944 chr11:66139414-66139424 chr11:66138835-66138846 chr11:66139411-66139424 chr11:66139149-66139162 chr11:66139414-66139423 chr11:66139450-66139464 chr11:66139411-66139424 chr11:66138835-66138845 chr11:66138831-66138845 chr11:66139412-66139426 chr11:66139411-66139425 chr11:66139435-66139449 chr11:66139411-66139424 chr11:66139413-66139423
24	ZNF384	chr11:66138175-66140139	K562	blood:	n/a	n/a
25	CTCF	chr11:66139560-66139710	GM12873	blood:	n/a	n/a
26	MAZ	chr11:66138456-66140040	GM12878	blood:	n/a	chr11:66138849-66138859 chr11:66139400-66139410 chr11:66138998-66139008
27	TBL1XR1	chr11:66138771-66140386	K562	blood:	n/a	n/a
28	SRF	chr11:66138502-66139964	MCF-7	breast:	n/a	chr11:66139146-66139156 chr11:66139339-66139349 chr11:66139019-66139029
29	POLR2A	chr11:66138389-66140379	K562	blood:	n/a	n/a
30	TCF12	chr11:66138342-66140114	MCF-7	breast:	n/a	chr11:66139106-66139113 chr11:66139182-66139192
31	GTF3C2	chr11:66139352-66140543	K562	blood:	n/a	n/a
32	GABPA	chr11:66139620-66140111	K562	blood:	n/a	n/a
33	POLR2A	chr11:66132307-66140371	K562	blood:	n/a	n/a
34	ZBTB7A	chr11:66138355-66139957	ECC-1	luminal epithelium:	n/a	chr11:66139599-66139608 chr11:66138631-66138640
35	HEY1	chr11:66139349-66140149	HepG2	liver:	n/a	chr11:66139655-66139670
36	POLR2A	chr11:66138897-66140036	HEK293	kidney:	n/a	n/a
37	JUND	chr11:66139178-66139867	H1-hESC	embryonic stem cell:	n/a	chr11:66139370-66139379
38	TAF1	chr11:66138931-66140185	K562	blood:	n/a	n/a
39	CTBP2	chr11:66139006-66140024	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr11:66138272-66140288	K562	blood:	n/a	chr11:66139655-66139670
41	MAX	chr11:66138354-66140435	NB4	blood:	n/a	chr11:66138849-66138859 chr11:66139400-66139410 chr11:66138998-66139008
42	E2F6	chr11:66139521-66139744	K562	blood:	n/a	n/a
43	PML	chr11:66139283-66140188	K562	blood:	n/a	n/a
44	ZBTB7A	chr11:66138553-66139790	K562	blood:	n/a	chr11:66139599-66139608 chr11:66138631-66138640
45	CTCF	chr11:66139580-66139730	GM06990	blood:	n/a	n/a
46	ZKSCAN1	chr11:66139539-66140176	Hela-S3	cervix:	n/a	n/a
47	PML	chr11:66139593-66140214	GM12878	blood:	n/a	n/a
48	CREB1	chr11:66138526-66140042	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr11:66139307-66139743	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr11:66138438-66139690	Hela-S3	cervix:	n/a	chr11:66138934-66138943 chr11:66139239-66139257 chr11:66139483-66139493 chr11:66138925-66138943 chr11:66138932-66138941

No.	Distal block	Cell Line	Cell type
1	chr11:66138830..66140876-chr11:66445335..66446976,2	K562	blood:
2	chr11:66078412..66081908-chr11:66138198..66140974,6	K562	blood:
3	chr11:66137845..66139913-chr11:66247832..66250470,2	K562	blood:
4	chr11:66078878..66081845-chr11:66137612..66139742,3	K562	blood:
5	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
6	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
7	chr11:66024034..66026694-chr11:66139002..66141879,3	K562	blood:
8	chr11:66138351..66141046-chr11:66154511..66157251,2	K562	blood:
9	chr11:66137324..66140278-chr12:53399350..53400945,2	MCF-7	breast:
10	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
11	chr11:66137325..66140119-chr11:66205058..66207807,2	K562	blood:
12	chr11:66102037..66105089-chr11:66137738..66140850,8	MCF-7	breast:
13	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
14	chr11:66139317..66139818-chr9:74525707..74526518,2	Hela-S3	cervix:
15	chr11:66137544..66141665-chr11:66155643..66157959,3	MCF-7	breast:
16	chr11:66049515..66053153-chr11:66136549..66141980,4	K562	blood:
17	chr11:66139563..66141244-chr11:66219589..66221744,2	MCF-7	breast:
18	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
19	chr11:66138363..66140696-chr11:66204293..66206330,3	MCF-7	breast:
20	chr11:66138177..66141064-chr11:66382767..66386168,3	MCF-7	breast:
21	chr11:66139196..66140787-chr11:66233339..66235193,2	MCF-7	breast:
22	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:
23	chr11:66139168..66140849-chr11:66177644..66179339,2	K562	blood:
24	chr11:66032275..66033954-chr11:66138154..66140084,2	MCF-7	breast:
25	chr11:66139017..66139829-chr3:49044819..49045376,2	Hela-S3	cervix:
26	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

Variant related genes	Relation type
SLC29A2	TF binding region
ENSG00000179292	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000254736	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000254596	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000063046	Chromatin interaction
ENSG00000107362	Chromatin interaction
ENSG00000155621	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174791	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11227472	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12364904	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66137400-66139800	Active TSS	GM12878-XiMat	blood
2	chr11:66137400-66140200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:66137600-66140200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:66137600-66140200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66137600-66140200	Active TSS	Psoas Muscle	Psoas
6	chr11:66137600-66140400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:66137600-66140400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:66137800-66140000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66137800-66140200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:66137800-66140200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66137800-66140400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:66137800-66140400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:66137800-66140400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:66137800-66140400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:66137800-66140400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:66137800-66140400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:66138000-66139800	Active TSS	Hela-S3	cervix
18	chr11:66138000-66140000	Active TSS	A549	lung
19	chr11:66138000-66140200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:66138000-66140200	Active TSS	Fetal Kidney	kidney
21	chr11:66138000-66140200	Active TSS	K562	blood
22	chr11:66138000-66140400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:66138000-66140400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:66138400-66139800	Active TSS	Primary T cells from cord blood	blood
25	chr11:66138400-66139800	Active TSS	Small Intestine	intestine
26	chr11:66138400-66140000	Active TSS	Esophagus	oesophagus
27	chr11:66138400-66140000	Active TSS	Left Ventricle	heart
28	chr11:66138400-66140200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:66138400-66140200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:66138400-66140200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:66138400-66140200	Active TSS	Brain Substantia Nigra	brain
32	chr11:66138400-66140200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr11:66138400-66140200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:66138400-66140200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr11:66138400-66140200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr11:66138400-66140400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:66138400-66140400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr11:66138600-66139800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:66138600-66139800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:66138600-66139800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr11:66138600-66139800	Active TSS	Ovary	ovary
42	chr11:66138600-66139800	Active TSS	Stomach Mucosa	stomach
43	chr11:66138600-66139800	Active TSS	HSMM	muscle
44	chr11:66138600-66140000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:66138600-66140000	Active TSS	Aorta	Aorta
46	chr11:66138600-66140000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr11:66138600-66140200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:66138600-66140200	Active TSS	Brain Anterior Caudate	brain
49	chr11:66138600-66140400	Active TSS	Brain Angular Gyrus	brain
50	chr11:66138600-66140600	Flanking Active TSS	Dnd41	blood

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