Variant report

Variant	rs553194235
Chromosome Location	chr11:120206612-120206613
allele	A/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	MXI1	chr11:120205600-120209978	SK-N-SH	brain:	n/a	n/a
2	MYC	chr11:120206534-120207070	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr11:120206244-120207221	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr11:120206600-120206750	GM12878	blood:	n/a	n/a
5	CTCF	chr11:120206609-120206780	HepG2	liver:	n/a	n/a
6	TBL1XR1	chr11:120205636-120208064	GM12878	blood:	n/a	n/a
7	HA-E2F1	chr11:120206427-120207900	MCF-7	breast:	n/a	chr11:120206524-120206534 chr11:120206968-120206983 chr11:120206770-120206780 chr11:120207350-120207360 chr11:120207206-120207218 chr11:120206546-120206556
8	REST	chr11:120206514-120207308	K562	blood:	n/a	chr11:120207291-120207304 chr11:120207288-120207301 chr11:120207288-120207308 chr11:120207288-120207308 chr11:120207289-120207307 chr11:120206816-120206829 chr11:120207288-120207308
9	MEF2A	chr11:120206584-120207285	GM12878	blood:	n/a	n/a
10	TAF1	chr11:120206576-120207402	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXM1	chr11:120206425-120207131	GM12878	blood:	n/a	n/a
12	CTCF	chr11:120206541-120206934	GM19240	blood:	n/a	n/a
13	POLR2A	chr11:120206161-120207970	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:120206371-120207623	K562	blood:	n/a	n/a
15	POLR2A	chr11:120206532-120207452	PFSK-1	brain:	n/a	n/a
16	MXI1	chr11:120206341-120207334	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:120206394-120207539	HepG2	liver:	n/a	n/a
18	RAD21	chr11:120206474-120207261	SK-N-SH_RA	brain:	n/a	chr11:120207240-120207254
19	RAD21	chr11:120205587-120209218	SK-N-SH	brain:	n/a	chr11:120207479-120207493 chr11:120207240-120207254 chr11:120205685-120205699 chr11:120205686-120205705 chr11:120207368-120207382
20	ELF1	chr11:120206606-120207196	MCF-7	breast:	n/a	chr11:120207154-120207163 chr11:120207160-120207169 chr11:120206869-120206878 chr11:120207156-120207168
21	POLR2A	chr11:120206428-120207455	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:120206600-120206750	GM12869	blood:	n/a	n/a
23	CTCF	chr11:120206553-120206904	K562	blood:	n/a	n/a
24	RUNX3	chr11:120206368-120207257	GM12878	blood:	n/a	n/a
25	FOXM1	chr11:120206436-120207527	GM12878	blood:	n/a	n/a
26	MAX	chr11:120206369-120208352	Hela-S3	cervix:	n/a	n/a
27	MTA3	chr11:120205595-120207058	GM12878	blood:	n/a	n/a
28	TCF12	chr11:120206515-120207135	A549	lung:	n/a	n/a
29	CTCF	chr11:120206580-120206730	A549	lung:	n/a	n/a
30	MAX	chr11:120206317-120207616	A549	lung:	n/a	chr11:120206335-120206344
31	ZBTB7A	chr11:120206322-120207202	ECC-1	luminal epithelium:	n/a	n/a
32	MYC	chr11:120206477-120206643	K562	blood:	n/a	n/a
33	YY1	chr11:120206599-120207355	GM12878	blood:	n/a	chr11:120206869-120206878 chr11:120207149-120207163 chr11:120207154-120207163 chr11:120207160-120207169 chr11:120206889-120206903
34	RAD21	chr11:120206559-120207291	SK-N-SH_RA	brain:	n/a	chr11:120207240-120207254
35	CHD1	chr11:120205964-120207427	GM12878	blood:	n/a	n/a
36	CTCF	chr11:120206540-120206893	NHEK	skin:	n/a	n/a
37	MAX	chr11:120206427-120207310	HepG2	liver:	n/a	n/a
38	CTCF	chr11:120206560-120206710	AG09309	skin:	n/a	n/a
39	POLR2A	chr11:120206600-120207837	ProgFib	skin:	n/a	n/a
40	HEY1	chr11:120206527-120207732	K562	blood:	n/a	n/a
41	CEBPB	chr11:120206565-120207446	K562	blood:	n/a	n/a
42	MAX	chr11:120206288-120207995	GM12878	blood:	n/a	chr11:120206335-120206344
43	CTCF	chr11:120206580-120206921	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:120206580-120206730	AG10803	skin:	n/a	n/a
45	CBX3	chr11:120206610-120207150	K562	blood:	n/a	n/a
46	POLR2A	chr11:120206591-120206925	HepG2	liver:	n/a	n/a
47	SP1	chr11:120206593-120207108	A549	lung:	n/a	chr11:120206948-120206960 chr11:120206948-120206960 chr11:120206812-120206823 chr11:120206949-120206958
48	POLR2A	chr11:120205612-120208129	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:120206364-120208136	K562	blood:	n/a	n/a
50	CTCF	chr11:120206559-120206949	GM19239	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120206574-120206624	K562	blood:	n/a
2	chr11:120206574-120206624	NHBE	bronchial:	n/a
3	chr11:120206574-120206624	MCF10A-Er-Src	breast:	n/a
4	chr11:120206574-120206624	HCPEpiC	choroid plexus:	n/a
5	chr11:120206574-120206624	BJ	skin:	n/a
6	chr11:120206574-120206624	T-47D	breast:	n/a
7	chr11:120206574-120206624	PrEC	prostate:	n/a
8	chr11:120206574-120206624	U87	brain:	n/a
9	chr11:120206574-120206624	HUVEC	blood vessel:	n/a
10	chr11:120206574-120206624	AG10803	skin:	n/a
11	chr11:120206574-120206624	HEEpiC	esophagus:	n/a
12	chr11:120206574-120206624	GM12891	blood:	n/a
13	chr11:120206574-120206624	NB4	blood:	n/a
14	chr11:120206574-120206624	HNPCEpiC	eye:	n/a
15	chr11:120206574-120206624	AG04449	skin:	fetal
16	chr11:120206574-120206624	Hela-S3	cervix:	n/a
17	chr11:120206574-120206624	AoSMC	blood vessel:	n/a
18	chr11:120206574-120206624	ProgFib	skin:	n/a
19	chr11:120206574-120206624	NT2-D1	testis:	n/a
20	chr11:120206574-120206624	SK-N-MC	brain:	n/a
21	chr11:120206574-120206624	GM12892	blood:	n/a
22	chr11:120206574-120206624	ECC-1	luminal epithelium:	n/a
23	chr11:120206574-120206624	HepG2	liver:	n/a
24	chr11:120206574-120206624	PANC-1	pancreas:	n/a
25	chr11:120206574-120206624	SK-N-SH	brain:	n/a
26	chr11:120206574-120206624	Caco-2	colon:	n/a
27	chr11:120206574-120206624	AG09319	gingival:	n/a
28	chr11:120206574-120206624	RPTEC	kidney:	n/a
29	chr11:120206574-120206624	Hepatocyte	liver:	n/a
30	chr11:120206574-120206624	ovcar-3	ovarian:	n/a
31	chr11:120206574-120206624	HEK293	kidney:	embryo
32	chr11:120206574-120206624	HAEpiC	amniotic membrane:	n/a
33	chr11:120206574-120206624	LNCaP	prostate:	n/a
34	chr11:120206574-120206624	GM19239	blood:	n/a
35	chr11:120206574-120206624	HIPEpiC	eye:	n/a
36	chr11:120206574-120206624	SAEC	small airway:	n/a
37	chr11:120206574-120206624	HCT-116	colon:	n/a
38	chr11:120206574-120206624	NHDF-neo	bronchial:	n/a
39	chr11:120206574-120206624	Jurkat	blood:	n/a
40	chr11:120206574-120206624	HRCEpiC	kidney:	n/a
41	chr11:120206574-120206624	SK-N-SH_RA	brain:	n/a
42	chr11:120206574-120206624	HCM	heart:	n/a
43	chr11:120206574-120206624	MCF-7	breast:	n/a
44	chr11:120206574-120206624	AG04450	lung:	fetal
45	chr11:120206574-120206624	A549	lung:	n/a
46	chr11:120206574-120206624	GM12878	blood:	n/a
47	chr11:120206574-120206624	HMEC	breast:	n/a
48	chr11:120206574-120206624	H1-hESC	embryonic stem cell:	embryo
49	chr11:120206574-120206624	SKMC	muscle:	n/a
50	chr11:120206574-120206624	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
2	chr11:120204970..120207228-chr21:46755550..46757641,2	K562	blood:
3	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:
4	chr11:120205411..120207219-chr11:120322379..120324809,2	MCF-7	breast:
5	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
6	chr11:120201509..120203556-chr11:120205430..120206977,2	MCF-7	breast:
7	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:
8	chr11:120205169..120207270-chr11:120327184..120328728,2	K562	blood:
9	chr11:120105523..120107872-chr11:120205217..120207566,2	MCF-7	breast:
10	chr11:120206196..120207138-chr17:41465190..41465809,2	Hela-S3	cervix:
11	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
12	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
13	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF12	TF binding region
ARHGEF12	CpG island
ENSG00000196914	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000229382	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv3360321	chr11:120205767-120208715	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120205600-120206800	Active TSS	Fetal Brain Male	brain
2	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:120205600-120207200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:120205600-120208200	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:120205600-120208600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120205600-120208800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:120205600-120209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:120205600-120209000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:120205600-120209400	Active TSS	Brain Hippocampus Middle	brain
11	chr11:120205600-120209400	Active TSS	Fetal Intestine Large	intestine
12	chr11:120205600-120209600	Active TSS	Fetal Muscle Trunk	muscle
13	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
17	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
18	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:120205600-120210200	Active TSS	A549	lung
21	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
22	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
23	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:120205800-120206800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:120205800-120206800	Flanking Active TSS	HMEC	breast
26	chr11:120205800-120207000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:120205800-120207600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:120205800-120207600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr11:120205800-120207600	Bivalent/Poised TSS	Fetal Thymus	thymus
30	chr11:120205800-120207800	Bivalent/Poised TSS	Thymus	Thymus
31	chr11:120205800-120208000	Active TSS	Brain Substantia Nigra	brain
32	chr11:120205800-120208600	Active TSS	Fetal Intestine Small	intestine
33	chr11:120205800-120208800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:120205800-120208800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:120205800-120209000	Active TSS	Pancreas	Pancrea
36	chr11:120205800-120209000	Active TSS	Stomach Mucosa	stomach
37	chr11:120205800-120209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr11:120205800-120209600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:120205800-120210200	Active TSS	Psoas Muscle	Psoas
40	chr11:120205800-120210200	Active TSS	NHDF-Ad	bronchial
41	chr11:120205800-120210400	Active TSS	Ovary	ovary
42	chr11:120205800-120210800	Active TSS	Aorta	Aorta
43	chr11:120205800-120210800	Active TSS	Brain Angular Gyrus	brain
44	chr11:120205800-120211000	Active TSS	Left Ventricle	heart
45	chr11:120205800-120211200	Active TSS	Right Atrium	heart
46	chr11:120205800-120211600	Active TSS	Right Ventricle	heart
47	chr11:120206000-120206800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
48	chr11:120206000-120209000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:120206000-120209600	Active TSS	Placenta	Placenta
50	chr11:120206200-120207600	Flanking Active TSS	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links