Variant report

Variant	rs539023495
Chromosome Location	chr2:233740576-233740577
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:233740440-233740834	HepG2	liver:	n/a	n/a
2	RAD21	chr2:233740366-233740617	SK-N-SH_RA	brain:	n/a	n/a
3	MAX	chr2:233740383-233740834	A549	lung:	n/a	n/a
4	POLR2A	chr2:233740380-233740769	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:233740065-233741988	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:233740440-233740590	HA-sp	spinal cord:	n/a	n/a
7	POLR2A	chr2:233740311-233740810	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:233740513-233740644	A549	lung:	n/a	n/a
9	POLR2A	chr2:233739914-233740702	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:233740384-233740803	HepG2	liver:	n/a	n/a
11	CTCF	chr2:233740440-233740590	HBMEC	blood vessel:	n/a	n/a
12	POLR2A	chr2:233739984-233740692	A549	lung:	n/a	n/a
13	RAD21	chr2:233740153-233740727	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:233740401-233740824	A549	lung:	n/a	n/a
15	CTCF	chr2:233740480-233740630	HFF-Myc	foreskin:	n/a	n/a
16	RAD21	chr2:233740403-233740648	IMR90	lung:	n/a	n/a
17	SIN3A	chr2:233740525-233740711	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr2:233740477-233740641	HepG2	liver:	n/a	n/a
19	TCF12	chr2:233740389-233740814	A549	lung:	n/a	n/a
20	POLR2A	chr2:233740434-233740684	MCF-7	breast:	n/a	n/a
21	RAD21	chr2:233740360-233740637	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr2:233740407-233740645	A549	lung:	n/a	n/a
23	POLR2A	chr2:233740438-233740750	HepG2	liver:	n/a	n/a
24	MAX	chr2:233740369-233740846	A549	lung:	n/a	n/a
25	POLR2A	chr2:233740370-233742177	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:233740324-233740864	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr2:233740523-233741665	MCF-7	breast:	n/a	n/a
28	RAD21	chr2:233740184-233740746	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:233740305-233740814	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr2:233740378-233740613	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:233740360-233740602	GM12891	blood:	n/a	n/a
32	RAD21	chr2:233740272-233740762	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPD	chr2:233740315-233740838	HepG2	liver:	n/a	n/a
34	CTCF	chr2:233740371-233740584	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:233740398-233740838	A549	lung:	n/a	n/a
36	CTCF	chr2:233740386-233740578	MCF-7	breast:	n/a	n/a
37	POLR2A	chr2:233740119-233740687	HepG2	liver:	n/a	n/a
38	RAD21	chr2:233740460-233740580	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:233740359-233740669	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr2:233740242-233740750	MCF-7	breast:	n/a	n/a
41	RAD21	chr2:233740318-233740800	HepG2	liver:	n/a	n/a
42	TAF1	chr2:233740376-233740828	HepG2	liver:	n/a	n/a
43	HEY1	chr2:233740209-233740740	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:233740374-233740837	A549	lung:	n/a	n/a
45	RAD21	chr2:233740362-233740675	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:233740143-233742085	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr2:233740429-233740597	A549	lung:	n/a	n/a
48	CTCF	chr2:233740520-233740670	RPTEC	kidney:	n/a	n/a
49	POLR2A	chr2:233735463-233740850	HepG2	liver:	n/a	n/a
50	POLR2A	chr2:233737594-233750472	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:
2	chr2:233739500..233741658-chr2:234118418..234121019,2	MCF-7	breast:
3	chr2:233738643..233740986-chr2:234158854..234161597,2	MCF-7	breast:
4	chr2:233739591..233745527-chr2:233747956..233752237,8	MCF-7	breast:
5	chr2:233739669..233741368-chr2:233754744..233756796,2	MCF-7	breast:
6	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:
7	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000085978	Chromatin interaction
ENSG00000182600	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000066248	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3395649	chr2:233739733-233742581	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233726400-233740800	Weak transcription	HSMM	muscle
2	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
3	chr2:233738600-233740600	Enhancers	Spleen	Spleen
4	chr2:233738800-233741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:233739400-233740600	Enhancers	Gastric	stomach
6	chr2:233739400-233740600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr2:233739400-233740600	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr2:233739800-233740600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:233740000-233740600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:233740000-233740600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:233740000-233740600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr2:233740000-233740600	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr2:233740000-233740600	Enhancers	Pancreas	Pancrea
14	chr2:233740000-233740600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:233740000-233740600	Flanking Active TSS	HepG2	liver
16	chr2:233740000-233740800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:233740000-233740800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:233740000-233741000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr2:233740000-233741000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:233740000-233742000	Bivalent Enhancer	Placenta	Placenta
21	chr2:233740200-233740600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:233740200-233740600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr2:233740200-233740600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr2:233740200-233740600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:233740200-233740600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:233740200-233740600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr2:233740200-233740600	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr2:233740200-233740600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr2:233740200-233740600	Bivalent Enhancer	Fetal Thymus	thymus
30	chr2:233740200-233740600	Flanking Active TSS	A549	lung
31	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:233740200-233740800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr2:233740200-233741000	Enhancers	Primary B cells from cord blood	blood
37	chr2:233740200-233741000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:233740200-233741000	Bivalent Enhancer	Left Ventricle	heart
39	chr2:233740200-233741600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr2:233740200-233742000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr2:233740200-233742200	Enhancers	Fetal Brain Male	brain
42	chr2:233740200-233742400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr2:233740400-233740600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:233740400-233740600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:233740400-233740600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:233740400-233740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:233740400-233740600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:233740400-233740600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr2:233740400-233740600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr2:233740400-233740600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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