Variant report

Variant	rs369997133
Chromosome Location	chr2:11051835-11051836
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	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	chr2:11051700-11051850	HCM	heart:	n/a	n/a
4	TCF12	chr2:11051554-11052214	A549	lung:	n/a	n/a
5	HDAC2	chr2:11051724-11052070	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOSL2	chr2:11051786-11052267	A549	lung:	n/a	chr2:11052040-11052049
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	ZBTB7A	chr2:11051493-11052324	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr2:11051696-11052143	SK-N-SH_RA	brain:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
27	CTCF	chr2:11051732-11051846	SK-N-SH_RA	brain:	n/a	n/a
28	NR3C1	chr2:11051659-11052264	A549	lung:	n/a	n/a
29	CTCF	chr2:11051643-11052163	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
30	CTCF	chr2:11051746-11052158	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
31	CTCF	chr2:11051771-11052118	NHEK	skin:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
32	RAD21	chr2:11051826-11052144	A549	lung:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991
33	RAD21	chr2:11051737-11052292	MCF-7	breast:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
34	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
35	MAX	chr2:11051408-11052308	H1-hESC	embryonic stem cell:	n/a	chr2:11051927-11051937
36	CTCF	chr2:11051700-11051850	MCF-7	breast:	n/a	n/a
37	RAD21	chr2:11051533-11052301	A549	lung:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
38	HDAC2	chr2:11051679-11052288	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:11051720-11051870	BJ	skin:	n/a	n/a
40	CHD2	chr2:11051582-11051992	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr2:11051726-11052052	H1-hESC	embryonic stem cell:	n/a	chr2:11051929-11051943 chr2:11051929-11051938
42	NFIC	chr2:11051715-11052690	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr2:11051314-11052396	ECC-1	luminal epithelium:	n/a	chr2:11051927-11051937
44	BCL3	chr2:11051636-11052221	A549	lung:	n/a	chr2:11051929-11051942 chr2:11052159-11052172 chr2:11052183-11052192 chr2:11051938-11051951
45	POLR2A	chr2:11051665-11052562	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr2:11051177-11052294	SK-N-SH	brain:	n/a	chr2:11052009-11052027 chr2:11052225-11052238 chr2:11052011-11052032
47	ZNF263	chr2:11051539-11053409	HEK293-T-REx	kidney:	n/a	n/a
48	CTCF	chr2:11051727-11052099	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
49	MAX	chr2:11051379-11052240	H1-hESC	embryonic stem cell:	n/a	chr2:11051927-11051937
50	POLR2A	chr2:11051761-11052325	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11051802-11051852	Caco-2	colon:	n/a
2	chr2:11051802-11051852	LNCaP	prostate:	n/a
3	chr2:11051802-11051852	NHDF-neo	bronchial:	n/a
4	chr2:11051802-11051852	GM12892	blood:	n/a
5	chr2:11051802-11051852	AG09319	gingival:	n/a
6	chr2:11051802-11051852	HMEC	breast:	n/a
7	chr2:11051802-11051852	GM12891	blood:	n/a
8	chr2:11051802-11051852	SK-N-MC	brain:	n/a
9	chr2:11051802-11051852	HCPEpiC	choroid plexus:	n/a
10	chr2:11051802-11051852	PFSK-1	brain:	n/a
11	chr2:11051802-11051852	HRE	kidney:	n/a
12	chr2:11051802-11051852	GM06990	blood:	n/a
13	chr2:11051802-11051852	MCF-7	breast:	n/a
14	chr2:11051802-11051852	NH-A	brain:	n/a
15	chr2:11051802-11051852	AoSMC	blood vessel:	n/a
16	chr2:11051802-11051852	PANC-1	pancreas:	n/a
17	chr2:11051802-11051852	GM12878	blood:	n/a
18	chr2:11051802-11051852	RPTEC	kidney:	n/a
19	chr2:11051802-11051852	BJ	skin:	n/a
20	chr2:11051802-11051852	GM19239	blood:	n/a
21	chr2:11051802-11051852	Hela-S3	cervix:	n/a
22	chr2:11051802-11051852	HRPEpiC	eye:	n/a
23	chr2:11051802-11051852	Jurkat	blood:	n/a
24	chr2:11051802-11051852	HAEpiC	amniotic membrane:	n/a
25	chr2:11051802-11051852	K562	blood:	n/a
26	chr2:11051802-11051852	ovcar-3	ovarian:	n/a
27	chr2:11051802-11051852	CMK	blood:	n/a
28	chr2:11051802-11051852	SKMC	muscle:	n/a
29	chr2:11051802-11051852	AG04450	lung:	fetal
30	chr2:11051802-11051852	SK-N-SH	brain:	n/a
31	chr2:11051802-11051852	HIPEpiC	eye:	n/a
32	chr2:11051802-11051852	PrEC	prostate:	n/a
33	chr2:11051802-11051852	HUVEC	blood vessel:	n/a
34	chr2:11051802-11051852	NT2-D1	testis:	n/a
35	chr2:11051802-11051852	AG09309	skin:	n/a
36	chr2:11051802-11051852	HL-60	blood:	n/a
37	chr2:11051802-11051852	MCF10A-Er-Src	breast:	n/a
38	chr2:11051802-11051852	HNPCEpiC	eye:	n/a
39	chr2:11051802-11051852	HCF	heart:	n/a
40	chr2:11051802-11051852	IMR90	lung:	fetal
41	chr2:11051802-11051852	HRCEpiC	kidney:	n/a
42	chr2:11051802-11051852	HEK293	kidney:	embryo
43	chr2:11051802-11051852	NHBE	bronchial:	n/a
44	chr2:11051802-11051852	A549	lung:	n/a
45	chr2:11051802-11051852	HepG2	liver:	n/a
46	chr2:11051802-11051852	NB4	blood:	n/a
47	chr2:11051802-11051852	HEEpiC	esophagus:	n/a
48	chr2:11051802-11051852	AG04449	skin:	fetal
49	chr2:11051802-11051852	BE2_C	brain:	n/a
50	chr2:11051802-11051852	U87	brain:	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
4	chr2:11051400-11052000	Bivalent Enhancer	Liver	Liver
5	chr2:11051400-11052000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr2:11051400-11052000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:11051400-11052000	Flanking Active TSS	A549	lung
8	chr2:11051400-11052200	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
15	chr2:11051600-11052000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr2:11051600-11052000	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr2:11051600-11052000	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr2:11051600-11052000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr2:11051600-11052200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr2:11051600-11052200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11051600-11052200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:11051600-11052200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr2:11051600-11052200	Bivalent Enhancer	Spleen	Spleen
32	chr2:11051600-11052200	Active TSS	Hela-S3	cervix
33	chr2:11051600-11052600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:11051600-11052600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:11051600-11052600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:11051600-11052800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:11051600-11052800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:11051600-11052800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:11051600-11052800	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr2:11051600-11052800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr2:11051600-11052800	Bivalent/Poised TSS	HSMM	muscle
42	chr2:11051600-11052800	Bivalent/Poised TSS	NH-A	brain
43	chr2:11051600-11053000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:11051600-11053000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:11051600-11053600	Bivalent Enhancer	Fetal Brain Male	brain
46	chr2:11051600-11054600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
48	chr2:11051800-11052000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:11051800-11052000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:11051800-11052000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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