Variant report

Variant	rs371188820
Chromosome Location	chr11:45202826-45202827
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	MAX	chr11:45202559-45203066	HepG2	liver:	n/a	chr11:45202681-45202691
2	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:45201832-45203358	HepG2	liver:	n/a	n/a
4	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
5	POLR2A	chr11:45201901-45202865	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr11:45202380-45202830	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:45201669-45202950	Hela-S3	cervix:	n/a	n/a
8	JUN	chr11:45202404-45202896	K562	blood:	n/a	chr11:45202563-45202572
9	HNF4A	chr11:45202786-45203131	HepG2	liver:	n/a	chr11:45202996-45203008 chr11:45202996-45203008 chr11:45202993-45203011 chr11:45203001-45203016 chr11:45203000-45203018 chr11:45202991-45203013 chr11:45202995-45203009 chr11:45202995-45203008 chr11:45203002-45203015 chr11:45203003-45203015 chr11:45202994-45203009 chr11:45203003-45203015 chr11:45202996-45203009 chr11:45202995-45203009 chr11:45202996-45203008
10	HA-E2F1	chr11:45201670-45202928	Hela-S3	cervix:	n/a	chr11:45201841-45201851 chr11:45202410-45202419 chr11:45202132-45202141 chr11:45202479-45202489
11	TCF7L2	chr11:45201567-45202918	HCT-116	colon:	n/a	n/a
12	MAX	chr11:45202368-45202871	SK-N-SH	brain:	n/a	chr11:45202435-45202445 chr11:45202681-45202691
13	POLR2A	chr11:45201346-45202987	PBDE	blood:	n/a	n/a
14	ZBTB7A	chr11:45201247-45203155	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
15	ZBTB7A	chr11:45201489-45203332	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
16	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
17	POLR2A	chr11:45202370-45203153	HepG2	liver:	n/a	n/a
18	CTCF	chr11:45202720-45202870	AG09319	gingival:	n/a	n/a
19	E2F6	chr11:45202380-45202938	A549	lung:	n/a	chr11:45202410-45202419 chr11:45202479-45202489
20	MYC	chr11:45201608-45202926	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
21	EP300	chr11:45201322-45202864	ECC-1	luminal epithelium:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
22	CTCF	chr11:45202700-45202850	WERI-Rb-1	eye:	n/a	n/a
23	TCF12	chr11:45201361-45202942	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
24	TEAD4	chr11:45201456-45202826	ECC-1	luminal epithelium:	n/a	n/a
25	ZNF143	chr11:45201537-45202833	Hela-S3	cervix:	n/a	chr11:45202480-45202490 chr11:45202119-45202137 chr11:45202787-45202797
26	TCF7L2	chr11:45202401-45202921	Hela-S3	cervix:	n/a	n/a
27	MAX	chr11:45201530-45202884	ECC-1	luminal epithelium:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
28	EP300	chr11:45201716-45202861	SK-N-SH	brain:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
29	TAF1	chr11:45202457-45202916	HepG2	liver:	n/a	n/a
30	HCFC1	chr11:45200158-45203524	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:45201075-45203095	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:45201711-45202934	A549	lung:	n/a	n/a
33	POLR2A	chr11:45201810-45203261	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:45202117-45202838	HUVEC	blood vessel:	n/a	n/a
35	TCF12	chr11:45201588-45202902	A549	lung:	n/a	chr11:45201861-45201868 chr11:45202040-45202048
36	MAX	chr11:45201651-45203217	HepG2	liver:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
37	ZKSCAN1	chr11:45202417-45203071	Hela-S3	cervix:	n/a	n/a
38	MAX	chr11:45201447-45202996	HCT-116	colon:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
39	TFAP2C	chr11:45200721-45203126	Hela-S3	cervix:	n/a	chr11:45202162-45202177 chr11:45202607-45202622
40	POLR2A	chr11:45201909-45202890	HUVEC	blood vessel:	n/a	n/a
41	CHD2	chr11:45201551-45203001	Hela-S3	cervix:	n/a	n/a
42	SP1	chr11:45202294-45202855	A549	lung:	n/a	chr11:45202828-45202835 chr11:45202502-45202516 chr11:45202535-45202545 chr11:45202535-45202545 chr11:45202680-45202692
43	SMARCB1	chr11:45201442-45203625	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:45201649-45203022	A549	lung:	n/a	n/a
45	CTCF	chr11:45202740-45202890	SAEC	small airway:	n/a	n/a
46	FOSL2	chr11:45202302-45202864	SK-N-SH	brain:	n/a	chr11:45202563-45202572
47	POLR2A	chr11:45201627-45203019	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr11:45200459-45203366	IMR90	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
49	CTCF	chr11:45202680-45202830	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:45202753-45202843	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45202128..45202855-chr20:42839088..42839664,2	Hela-S3	cervix:
3	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
4	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
5	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
6	chr11:45201839..45203061-chr11:62608513..62609201,3	Hela-S3	cervix:
7	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
8	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
9	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
10	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
11	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
12	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
13	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000019485	Chromatin interaction
ENSG00000223891	Chromatin interaction
ENSG00000254664	Chromatin interaction
ENSG00000132823	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3406728	chr11:45201001-45203549	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3326620	chr11:45201401-45203949	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45201400-45203000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:45201400-45203000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45201400-45203000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:45201400-45203400	Flanking Active TSS	Colonic Mucosa	Colon
5	chr11:45201400-45203400	Enhancers	Fetal Brain Male	brain
6	chr11:45201600-45203000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:45201600-45203000	Active TSS	Brain Angular Gyrus	brain
8	chr11:45201600-45203000	Active TSS	HepG2	liver
9	chr11:45201600-45203600	Active TSS	Aorta	Aorta
10	chr11:45201800-45203000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:45201800-45203000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:45201800-45203000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:45201800-45203000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:45201800-45203000	Active TSS	Brain Anterior Caudate	brain
15	chr11:45201800-45203000	Active TSS	HSMM	muscle
16	chr11:45201800-45203200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:45201800-45203200	Active TSS	Psoas Muscle	Psoas
18	chr11:45201800-45203200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:45201800-45203200	Active TSS	Right Atrium	heart
20	chr11:45201800-45204000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:45202000-45203000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:45202000-45203000	Active TSS	Gastric	stomach
23	chr11:45202000-45203000	Active TSS	HSMMtube	muscle
24	chr11:45202000-45204600	Weak transcription	Liver	Liver
25	chr11:45202000-45205400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:45202000-45206600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:45202000-45207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:45202000-45220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:45202200-45204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:45202400-45203000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr11:45202400-45203000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:45202400-45203200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr11:45202400-45203200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:45202400-45203200	Flanking Active TSS	NHEK	skin
35	chr11:45202400-45203400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:45202400-45203400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:45202400-45203600	Enhancers	Stomach Mucosa	stomach
38	chr11:45202400-45204200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45202600-45203000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:45202600-45203000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:45202600-45203000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:45202600-45203000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:45202600-45203000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:45202600-45203000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:45202600-45203000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:45202600-45203000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:45202600-45203000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:45202600-45203000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:45202600-45203000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr11:45202600-45203000	Flanking Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links