Variant report

Variant	rs568836570
Chromosome Location	chr2:11051773-11051774
allele	G/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	RAD21	chr2:11051645-11052044	H1-hESC	embryonic stem cell:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991
2	TEAD4	chr2:11051620-11052243	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:11051660-11051810	Caco-2	colon:	n/a	n/a
4	CTCF	chr2:11051700-11051850	HCM	heart:	n/a	n/a
5	TCF12	chr2:11051554-11052214	A549	lung:	n/a	n/a
6	HDAC2	chr2:11051724-11052070	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:11051760-11051910	SK-N-SH_RA	brain:	n/a	n/a
8	JUND	chr2:11051719-11052041	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr2:11051732-11052317	A549	lung:	n/a	chr2:11052254-11052263 chr2:11052158-11052168 chr2:11052041-11052050 chr2:11051929-11051938 chr2:11051933-11051942 chr2:11052039-11052048
10	CTCF	chr2:11051556-11051955	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr2:11051551-11052175	H1-hESC	embryonic stem cell:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991
12	CTCF	chr2:11051656-11052186	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
13	CTCF	chr2:11051722-11051882	HepG2	liver:	n/a	n/a
14	RAD21	chr2:11051689-11052105	HepG2	liver:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991
15	CTCF	chr2:11051712-11052069	HepG2	liver:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
16	RAD21	chr2:11051658-11052269	IMR90	lung:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
17	RAD21	chr2:11051439-11052327	SK-N-SH	brain:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
18	CTCF	chr2:11051766-11052113	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
19	ESR1	chr2:11051750-11052080	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr2:11051691-11052311	A549	lung:	n/a	chr2:11051705-11051719 chr2:11052040-11052049
21	MAX	chr2:11051771-11052298	SK-N-SH	brain:	n/a	chr2:11051927-11051937
22	CTCF	chr2:11051720-11051870	HA-sp	spinal cord:	n/a	n/a
23	MAX	chr2:11051710-11052380	MCF-7	breast:	n/a	chr2:11051927-11051937
24	TCF12	chr2:11051272-11052728	ECC-1	luminal epithelium:	n/a	chr2:11051332-11051342
25	CTCF	chr2:11051680-11051830	AG10803	skin:	n/a	n/a
26	ZBTB7A	chr2:11051493-11052324	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr2:11051696-11052143	SK-N-SH_RA	brain:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
28	CTCF	chr2:11051732-11051846	SK-N-SH_RA	brain:	n/a	n/a
29	NR3C1	chr2:11051659-11052264	A549	lung:	n/a	n/a
30	CTCF	chr2:11051643-11052163	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
31	CTCF	chr2:11051746-11052158	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
32	CTCF	chr2:11051771-11052118	NHEK	skin:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
33	CTCF	chr2:11051680-11051830	HCPEpiC	choroid plexus:	n/a	n/a
34	RAD21	chr2:11051737-11052292	MCF-7	breast:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
35	HA-E2F1	chr2:11051718-11052246	MCF-7	breast:	n/a	chr2:11052158-11052168 chr2:11052041-11052050 chr2:11051929-11051938 chr2:11051933-11051942 chr2:11052039-11052048
36	CTCF	chr2:11051660-11051810	HRE	kidney:	n/a	n/a
37	MAX	chr2:11051408-11052308	H1-hESC	embryonic stem cell:	n/a	chr2:11051927-11051937
38	CTCF	chr2:11051700-11051850	MCF-7	breast:	n/a	n/a
39	RAD21	chr2:11051533-11052301	A549	lung:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
40	HDAC2	chr2:11051679-11052288	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:11051720-11051870	BJ	skin:	n/a	n/a
42	CHD2	chr2:11051582-11051992	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr2:11051726-11052052	H1-hESC	embryonic stem cell:	n/a	chr2:11051929-11051943 chr2:11051929-11051938
44	NFIC	chr2:11051715-11052690	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr2:11051314-11052396	ECC-1	luminal epithelium:	n/a	chr2:11051927-11051937
46	BCL3	chr2:11051636-11052221	A549	lung:	n/a	chr2:11051929-11051942 chr2:11052159-11052172 chr2:11052183-11052192 chr2:11051938-11051951
47	CTCF	chr2:11051765-11051834	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:11051665-11052562	H1-neurons	neurons:	n/a	n/a
49	CTCF	chr2:11051177-11052294	SK-N-SH	brain:	n/a	chr2:11052009-11052027 chr2:11052225-11052238 chr2:11052011-11052032
50	ZNF263	chr2:11051539-11053409	HEK293-T-REx	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11051728-11051778	Caco-2	colon:	n/a
2	chr2:11051728-11051778	HEEpiC	esophagus:	n/a
3	chr2:11051728-11051778	HCM	heart:	n/a
4	chr2:11051728-11051778	HRE	kidney:	n/a
5	chr2:11051728-11051778	HCF	heart:	n/a
6	chr2:11051728-11051778	Hela-S3	cervix:	n/a
7	chr2:11051728-11051778	GM06990	blood:	n/a
8	chr2:11051728-11051778	HepG2	liver:	n/a
9	chr2:11051728-11051778	HUVEC	blood vessel:	n/a
10	chr2:11051728-11051778	ovcar-3	ovarian:	n/a
11	chr2:11051728-11051778	U87	brain:	n/a
12	chr2:11051728-11051778	K562	blood:	n/a
13	chr2:11051728-11051778	HMEC	breast:	n/a
14	chr2:11051728-11051778	GM12878	blood:	n/a
15	chr2:11051728-11051778	IMR90	lung:	fetal
16	chr2:11051728-11051778	Jurkat	blood:	n/a
17	chr2:11051728-11051778	PrEC	prostate:	n/a
18	chr2:11051728-11051778	HRCEpiC	kidney:	n/a
19	chr2:11051728-11051778	AG04450	lung:	fetal
20	chr2:11051728-11051778	ECC-1	luminal epithelium:	n/a
21	chr2:11051728-11051778	BJ	skin:	n/a
22	chr2:11051728-11051778	HRPEpiC	eye:	n/a
23	chr2:11051728-11051778	AG04449	skin:	fetal
24	chr2:11051728-11051778	PFSK-1	brain:	n/a
25	chr2:11051728-11051778	NHBE	bronchial:	n/a
26	chr2:11051728-11051778	HAEpiC	amniotic membrane:	n/a
27	chr2:11051728-11051778	NT2-D1	testis:	n/a
28	chr2:11051728-11051778	HNPCEpiC	eye:	n/a
29	chr2:11051728-11051778	GM12891	blood:	n/a
30	chr2:11051728-11051778	CMK	blood:	n/a
31	chr2:11051728-11051778	PANC-1	pancreas:	n/a
32	chr2:11051728-11051778	AG10803	skin:	n/a
33	chr2:11051728-11051778	MCF-7	breast:	n/a
34	chr2:11051728-11051778	T-47D	breast:	n/a
35	chr2:11051728-11051778	GM19239	blood:	n/a
36	chr2:11051728-11051778	SKMC	muscle:	n/a
37	chr2:11051728-11051778	ProgFib	skin:	n/a
38	chr2:11051728-11051778	NH-A	brain:	n/a
39	chr2:11051728-11051778	RPTEC	kidney:	n/a
40	chr2:11051728-11051778	Hepatocyte	liver:	n/a
41	chr2:11051728-11051778	NHDF-neo	bronchial:	n/a
42	chr2:11051728-11051778	SK-N-SH	brain:	n/a
43	chr2:11051728-11051778	GM12892	blood:	n/a
44	chr2:11051728-11051778	NB4	blood:	n/a
45	chr2:11051728-11051778	SK-N-SH_RA	brain:	n/a
46	chr2:11051728-11051778	BE2_C	brain:	n/a
47	chr2:11051728-11051778	AG09319	gingival:	n/a
48	chr2:11051728-11051778	SAEC	small airway:	n/a
49	chr2:11051728-11051778	HIPEpiC	eye:	n/a
50	chr2:11051728-11051778	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10977377..10978983-chr2:11051588..11054422,2	MCF-7	breast:

Variant related genes	Relation type
KCNF1	TF binding region
KCNF1	CpG island
ENSG00000143870	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	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv873662	chr2:11035430-11061156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3341963	chr2:11051501-11053499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051000-11051800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:11051200-11051800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
6	chr2:11051400-11051800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11051400-11051800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr2:11051400-11051800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:11051400-11051800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:11051400-11051800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:11051400-11051800	Enhancers	Pancreas	Pancrea
12	chr2:11051400-11051800	Flanking Active TSS	Right Ventricle	heart
13	chr2:11051400-11052000	Bivalent Enhancer	Liver	Liver
14	chr2:11051400-11052000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr2:11051400-11052000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:11051400-11052000	Flanking Active TSS	A549	lung
17	chr2:11051400-11052200	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
24	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr2:11051600-11051800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11051600-11051800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:11051600-11051800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:11051600-11051800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:11051600-11051800	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr2:11051600-11051800	Bivalent Enhancer	Colon Smooth Muscle	Colon
34	chr2:11051600-11051800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr2:11051600-11051800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr2:11051600-11051800	Enhancers	Ovary	ovary
39	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	HSMMtube	muscle
40	chr2:11051600-11052000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr2:11051600-11052000	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr2:11051600-11052000	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
47	chr2:11051600-11052200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr2:11051600-11052200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links