Variant report

Variant	rs372125911
Chromosome Location	chr2:11484463-11484464
allele	-/GCCCG
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	POLR2A	chr2:11483664-11485408	HEK293	kidney:	n/a	n/a
2	POLR2A	chr2:11484391-11485980	PANC-1	pancreas:	n/a	n/a
3	MAZ	chr2:11482527-11485966	IMR90	lung:	n/a	chr2:11484107-11484117
4	MAX	chr2:11483578-11485610	ECC-1	luminal epithelium:	n/a	chr2:11484107-11484117
5	CHD2	chr2:11483659-11485828	Hela-S3	cervix:	n/a	chr2:11484574-11484584
6	POLR2A	chr2:11483825-11485635	HUVEC	blood vessel:	n/a	n/a
7	PAX5	chr2:11483927-11485368	GM12892	blood:	n/a	chr2:11484560-11484587
8	SIN3AK20	chr2:11483595-11485509	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:11484359-11484918	GM12892	blood:	n/a	n/a
10	MAX	chr2:11482548-11486084	A549	lung:	n/a	chr2:11484107-11484117
11	MXI1	chr2:11481913-11486311	SK-N-SH	brain:	n/a	n/a
12	MAX	chr2:11482699-11485758	HepG2	liver:	n/a	chr2:11484107-11484117
13	POLR2A	chr2:11483555-11485468	H1-neurons	neurons:	n/a	n/a
14	MYC	chr2:11483622-11485498	K562	blood:	n/a	chr2:11484107-11484117
15	POLR2A	chr2:11482753-11484611	A549	lung:	n/a	n/a
16	ZBTB7A	chr2:11483594-11484484	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr2:11482729-11486472	MCF10A-Er-Src	breast:	n/a	n/a
18	MAZ	chr2:11482539-11485760	HepG2	liver:	n/a	chr2:11484107-11484117
19	POLR2A	chr2:11482788-11486262	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:11482618-11486449	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:11484436-11485100	GM12892	blood:	n/a	n/a
22	YY1	chr2:11484198-11485404	K562	blood:	n/a	chr2:11485085-11485096 chr2:11485085-11485094 chr2:11485051-11485062 chr2:11485012-11485023
23	CHD1	chr2:11483925-11484704	GM12878	blood:	n/a	chr2:11484574-11484584
24	E2F1	chr2:11484372-11485956	Hela-S3	cervix:	n/a	chr2:11484485-11484500 chr2:11485047-11485056
25	POLR2A	chr2:11482554-11486380	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:11483578-11485833	Hela-S3	cervix:	n/a	n/a
27	HA-E2F1	chr2:11483698-11485737	MCF-7	breast:	n/a	chr2:11484485-11484500 chr2:11485047-11485056 chr2:11484103-11484113
28	TAF1	chr2:11483589-11484491	H1-neurons	neurons:	n/a	n/a
29	REST	chr2:11483545-11485822	HepG2	liver:	n/a	chr2:11484001-11484014
30	E2F4	chr2:11484058-11485316	K562	blood:	n/a	chr2:11484485-11484500 chr2:11485047-11485056 chr2:11484103-11484113
31	TAF1	chr2:11483675-11485283	HepG2	liver:	n/a	n/a
32	UBTF	chr2:11483612-11485732	K562	blood:	n/a	n/a
33	POLR2A	chr2:11483730-11485628	A549	lung:	n/a	n/a
34	TAF1	chr2:11483594-11485564	HepG2	liver:	n/a	n/a
35	ZNF263	chr2:11482688-11485367	HEK293-T-REx	kidney:	n/a	chr2:11483832-11483853 chr2:11483082-11483091
36	POLR2A	chr2:11484387-11485583	A549	lung:	n/a	n/a
37	JUN	chr2:11484454-11485788	K562	blood:	n/a	n/a
38	POLR2A	chr2:11483650-11485828	K562	blood:	n/a	n/a
39	POLR2A	chr2:11483741-11485773	K562	blood:	n/a	n/a
40	POLR2A	chr2:11483495-11485888	Hela-S3	cervix:	n/a	n/a
41	ELF1	chr2:11484434-11485347	K562	blood:	n/a	chr2:11485257-11485269 chr2:11485113-11485125 chr2:11485320-11485332
42	SIN3A	chr2:11484399-11484662	GM12878	blood:	n/a	n/a
43	EP300	chr2:11484356-11485873	HepG2	liver:	n/a	chr2:11484364-11484380 chr2:11485239-11485248
44	ZBTB7A	chr2:11483781-11485581	K562	blood:	n/a	chr2:11485289-11485297 chr2:11485048-11485057
45	POLR2A	chr2:11483605-11485895	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr2:11483610-11485754	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr2:11483538-11485583	K562	blood:	n/a	chr2:11484107-11484117
48	CREB1	chr2:11482648-11485853	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:11483582-11485890	HepG2	liver:	n/a	n/a
50	MAX	chr2:11482320-11485913	Hela-S3	cervix:	n/a	chr2:11484107-11484117

No.	Distal block	Cell Line	Cell type
1	chr2:11446328..11449302-chr2:11482839..11485533,2	MCF-7	breast:
2	chr2:11482372..11487550-chr2:11525654..11531960,9	MCF-7	breast:
3	chr2:11373041..11376680-chr2:11481459..11486793,6	MCF-7	breast:
4	chr2:11481545..11486787-chr2:11491378..11496218,8	MCF-7	breast:
5	chr2:11483291..11485571-chr2:11604286..11606431,2	MCF-7	breast:
6	chr2:11483940..11486207-chr2:11530235..11532034,2	K562	blood:
7	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
8	chr2:11483049..11486978-chr2:11530307..11533471,4	MCF-7	breast:
9	chr2:11482371..11485428-chr2:11534025..11537515,3	K562	blood:
10	chr12:6976609..6977364-chr2:11484024..11484907,2	Hela-S3	cervix:
11	chr2:10951194..10953015-chr2:11483398..11486312,2	MCF-7	breast:
12	chr2:11482684..11486384-chr2:11678704..11682899,6	MCF-7	breast:
13	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
14	chr2:11482129..11485059-chr2:11681594..11684381,2	MCF-7	breast:

Variant related genes	Relation type
ROCK2	TF binding region
ENSG00000162976	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000226961	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000224177	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000231403	Chromatin interaction
ENSG00000230154	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000169016	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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	esv3449527	chr2:11483801-11486049	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11479800-11485400	Active TSS	GM12878-XiMat	blood
2	chr2:11480000-11485800	Active TSS	Aorta	Aorta
3	chr2:11481000-11485200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:11481000-11485600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11481000-11485600	Active TSS	NHLF	lung
6	chr2:11481000-11485800	Active TSS	Ovary	ovary
7	chr2:11481200-11484600	Active TSS	Right Atrium	heart
8	chr2:11481200-11485600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:11481600-11485400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:11481600-11485400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:11481600-11485600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:11481600-11485600	Active TSS	Brain Germinal Matrix	brain
13	chr2:11481600-11485800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:11481800-11485200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:11481800-11485600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:11481800-11485600	Active TSS	Fetal Intestine Large	intestine
17	chr2:11481800-11485600	Active TSS	NHDF-Ad	bronchial
18	chr2:11481800-11485800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:11481800-11486000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:11482000-11485400	Active TSS	A549	lung
21	chr2:11482000-11485400	Active TSS	Hela-S3	cervix
22	chr2:11482000-11485800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:11482000-11486000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:11482000-11486000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:11482200-11485200	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:11482200-11485400	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:11482200-11485400	Active TSS	Colon Smooth Muscle	Colon
28	chr2:11482200-11485400	Active TSS	HSMMtube	muscle
29	chr2:11482200-11485600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:11482200-11485600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:11482200-11485600	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:11482200-11485800	Active TSS	Fetal Muscle Trunk	muscle
33	chr2:11482200-11485800	Active TSS	Psoas Muscle	Psoas
34	chr2:11482400-11485200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:11482400-11485200	Active TSS	HMEC	breast
36	chr2:11482400-11485400	Active TSS	Fetal Muscle Leg	muscle
37	chr2:11482400-11485400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:11482400-11485400	Active TSS	HSMM	muscle
39	chr2:11482400-11485600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr2:11482400-11485600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr2:11482400-11485600	Active TSS	Brain Anterior Caudate	brain
42	chr2:11482400-11485600	Active TSS	Fetal Intestine Small	intestine
43	chr2:11482400-11485600	Active TSS	Fetal Stomach	stomach
44	chr2:11482400-11485600	Active TSS	Left Ventricle	heart
45	chr2:11482400-11486400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:11482600-11485600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:11482600-11485600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:11482600-11485800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:11482600-11485800	Active TSS	Right Ventricle	heart
50	chr2:11482600-11486000	Active TSS	H1 Cell Line	embryonic stem cell

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