Variant report

Variant	rs552797576
Chromosome Location	chr11:120207383-120207384
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	MXI1	chr11:120205600-120209978	SK-N-SH	brain:	n/a	n/a
2	EP300	chr11:120206709-120209649	K562	blood:	n/a	chr11:120207474-120207490 chr11:120207541-120207554 chr11:120207347-120207363 chr11:120209130-120209139
3	TBL1XR1	chr11:120205636-120208064	GM12878	blood:	n/a	n/a
4	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
5	SIN3AK20	chr11:120206678-120207700	PANC-1	pancreas:	n/a	n/a
6	HA-E2F1	chr11:120206756-120207724	Hela-S3	cervix:	n/a	chr11:120206968-120206983 chr11:120206770-120206780 chr11:120207350-120207360 chr11:120207206-120207218
7	TAF1	chr11:120206576-120207402	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:120206161-120207970	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:120206371-120207623	K562	blood:	n/a	n/a
10	POLR2A	chr11:120206532-120207452	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:120206394-120207539	HepG2	liver:	n/a	n/a
12	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
13	POLR2A	chr11:120206428-120207455	HCT-116	colon:	n/a	n/a
14	POLR2A	chr11:120206755-120207500	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:120206642-120207475	HCT-116	colon:	n/a	n/a
16	FOXM1	chr11:120206436-120207527	GM12878	blood:	n/a	n/a
17	E2F6	chr11:120207370-120207610	K562	blood:	n/a	n/a
18	MAX	chr11:120206369-120208352	Hela-S3	cervix:	n/a	n/a
19	HEY1	chr11:120206641-120207568	K562	blood:	n/a	n/a
20	GABPA	chr11:120206621-120207403	MCF-7	breast:	n/a	chr11:120207094-120207108
21	MAX	chr11:120206317-120207616	A549	lung:	n/a	chr11:120206335-120206344
22	POLR2A	chr11:120206661-120207640	A549	lung:	n/a	n/a
23	ELF1	chr11:120206700-120207477	K562	blood:	n/a	chr11:120207154-120207163 chr11:120207241-120207253 chr11:120207160-120207169 chr11:120206869-120206878 chr11:120207156-120207168
24	POLR2A	chr11:120206865-120207419	HepG2	liver:	n/a	n/a
25	CHD1	chr11:120205964-120207427	GM12878	blood:	n/a	n/a
26	TAF1	chr11:120206654-120207590	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:120206600-120207837	ProgFib	skin:	n/a	n/a
28	HEY1	chr11:120206527-120207732	K562	blood:	n/a	n/a
29	HEY1	chr11:120206887-120207621	HepG2	liver:	n/a	n/a
30	IRF1	chr11:120206616-120207396	K562	blood:	n/a	chr11:120207023-120207036
31	CEBPB	chr11:120206565-120207446	K562	blood:	n/a	n/a
32	MAX	chr11:120206288-120207995	GM12878	blood:	n/a	chr11:120206335-120206344
33	POLR2A	chr11:120206794-120207485	GM12892	blood:	n/a	n/a
34	RFX5	chr11:120206617-120207466	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr11:120206652-120207393	SK-N-SH	brain:	n/a	chr11:120207094-120207108
36	POLR2A	chr11:120205612-120208129	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:120206364-120208136	K562	blood:	n/a	n/a
38	CCNT2	chr11:120206375-120207714	K562	blood:	n/a	chr11:120206949-120206958 chr11:120207605-120207614
39	TBP	chr11:120206270-120208794	K562	blood:	n/a	n/a
40	MYC	chr11:120207278-120207387	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:120206336-120207758	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr11:120206689-120207537	A549	lung:	n/a	n/a
43	POLR2A	chr11:120206580-120207509	HUVEC	blood vessel:	n/a	n/a
44	CEBPB	chr11:120206811-120207426	IMR90	lung:	n/a	n/a
45	E2F6	chr11:120206427-120207637	K562	blood:	n/a	chr11:120206524-120206534 chr11:120206968-120206983 chr11:120206770-120206780 chr11:120207350-120207360 chr11:120207206-120207218 chr11:120206546-120206556
46	POLR2A	chr11:120206659-120207673	MCF-7	breast:	n/a	n/a
47	PML	chr11:120206617-120207421	K562	blood:	n/a	n/a
48	CEBPB	chr11:120206855-120207425	HepG2	liver:	n/a	n/a
49	RCOR1	chr11:120206716-120207395	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:120206446-120207916	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:
2	chr11:120187467..120189508-chr11:120207099..120208640,2	MCF-7	breast:
3	chr11:120207370..120208927-chr11:120276135..120278811,2	K562	blood:
4	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
5	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:
6	chr11:120105523..120107872-chr11:120205217..120207566,2	MCF-7	breast:
7	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
8	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000137709	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	chr11:120205600-120208200	Active TSS	Stomach Smooth Muscle	stomach
2	chr11:120205600-120208600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:120205600-120208800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:120205600-120209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:120205600-120209000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:120205600-120209400	Active TSS	Brain Hippocampus Middle	brain
7	chr11:120205600-120209400	Active TSS	Fetal Intestine Large	intestine
8	chr11:120205600-120209600	Active TSS	Fetal Muscle Trunk	muscle
9	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
13	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
14	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:120205600-120210200	Active TSS	A549	lung
17	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
18	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
19	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:120205800-120207600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:120205800-120207600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:120205800-120207600	Bivalent/Poised TSS	Fetal Thymus	thymus
23	chr11:120205800-120207800	Bivalent/Poised TSS	Thymus	Thymus
24	chr11:120205800-120208000	Active TSS	Brain Substantia Nigra	brain
25	chr11:120205800-120208600	Active TSS	Fetal Intestine Small	intestine
26	chr11:120205800-120208800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:120205800-120208800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:120205800-120209000	Active TSS	Pancreas	Pancrea
29	chr11:120205800-120209000	Active TSS	Stomach Mucosa	stomach
30	chr11:120205800-120209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:120205800-120209600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:120205800-120210200	Active TSS	Psoas Muscle	Psoas
33	chr11:120205800-120210200	Active TSS	NHDF-Ad	bronchial
34	chr11:120205800-120210400	Active TSS	Ovary	ovary
35	chr11:120205800-120210800	Active TSS	Aorta	Aorta
36	chr11:120205800-120210800	Active TSS	Brain Angular Gyrus	brain
37	chr11:120205800-120211000	Active TSS	Left Ventricle	heart
38	chr11:120205800-120211200	Active TSS	Right Atrium	heart
39	chr11:120205800-120211600	Active TSS	Right Ventricle	heart
40	chr11:120206000-120209000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:120206000-120209600	Active TSS	Placenta	Placenta
42	chr11:120206200-120207600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr11:120206200-120208000	Active TSS	K562	blood
44	chr11:120206200-120208200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:120206200-120208400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120206200-120208600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:120206200-120208600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:120206200-120208800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:120206200-120208800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:120206200-120209000	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links