Variant report

Variant	rs542613686
Chromosome Location	chr2:233740887-233740888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:233740883-233742519	A549	lung:	n/a	n/a
2	E2F6	chr2:233740860-233741398	A549	lung:	n/a	n/a
3	POLR2A	chr2:233740065-233741988	Hela-S3	cervix:	n/a	n/a
4	MYC	chr2:233740882-233742039	A549	lung:	n/a	n/a
5	MAX	chr2:233740882-233742124	A549	lung:	n/a	n/a
6	POLR2A	chr2:233740872-233741961	A549	lung:	n/a	n/a
7	CTCF	chr2:233740880-233741030	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr2:233740840-233740990	HAc	cerebellar:	n/a	n/a
9	MAX	chr2:233740800-233741615	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr2:233740872-233741876	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:233740370-233742177	HepG2	liver:	n/a	n/a
12	MAX	chr2:233740523-233741665	MCF-7	breast:	n/a	n/a
13	MAX	chr2:233740781-233741569	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr2:233740882-233741574	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr2:233740887-233741831	A549	lung:	n/a	n/a
16	YY1	chr2:233740885-233742038	HepG2	liver:	n/a	chr2:233740979-233740991
17	HDAC2	chr2:233740879-233741503	HepG2	liver:	n/a	n/a
18	CTCF	chr2:233740880-233741030	BE2_C	brain:	n/a	n/a
19	BACH1	chr2:233740653-233741530	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr2:233740789-233741685	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr2:233740863-233742069	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:233740143-233742085	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:233740869-233741093	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:233740872-233742237	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:233740884-233742165	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:233737594-233750472	HepG2	liver:	n/a	n/a
27	RAD21	chr2:233740862-233741748	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:233740880-233741030	HL-60	blood:	n/a	n/a
29	POLR2A	chr2:233740867-233741885	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr2:233740872-233741368	A549	lung:	n/a	n/a
31	MAX	chr2:233740768-233741686	ECC-1	luminal epithelium:	n/a	n/a
32	HEY1	chr2:233740882-233741643	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:233740884-233741619	MCF-7	breast:	n/a	n/a
34	TAF1	chr2:233740833-233741655	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
ENSG00000182600	Chromatin interaction
ENSG00000085978	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
2	chr2:233738800-233741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:233740000-233741000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr2:233740000-233741000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:233740000-233742000	Bivalent Enhancer	Placenta	Placenta
6	chr2:233740200-233741000	Enhancers	Primary B cells from cord blood	blood
7	chr2:233740200-233741000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:233740200-233741000	Bivalent Enhancer	Left Ventricle	heart
9	chr2:233740200-233741600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr2:233740200-233742000	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr2:233740200-233742200	Enhancers	Fetal Brain Male	brain
12	chr2:233740200-233742400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr2:233740400-233741000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:233740400-233741000	Enhancers	Lung	lung
15	chr2:233740400-233741000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr2:233740400-233741000	Bivalent/Poised TSS	Thymus	Thymus
17	chr2:233740400-233741400	Bivalent/Poised TSS	Small Intestine	intestine
18	chr2:233740400-233741600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr2:233740400-233741800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr2:233740400-233741800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:233740400-233741800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:233740400-233741800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr2:233740400-233741800	Flanking Active TSS	Right Ventricle	heart
24	chr2:233740400-233742000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:233740400-233742000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:233740400-233742000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:233740400-233742000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:233740400-233742000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:233740400-233742000	Active TSS	Brain Angular Gyrus	brain
30	chr2:233740400-233742200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:233740400-233742200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:233740400-233742200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:233740400-233742400	Active TSS	Hela-S3	cervix
34	chr2:233740600-233741000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:233740600-233741000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:233740600-233741000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr2:233740600-233741000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:233740600-233741000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:233740600-233741000	Active TSS	NH-A	brain
40	chr2:233740600-233741200	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr2:233740600-233741200	Bivalent/Poised TSS	Fetal Thymus	thymus
42	chr2:233740600-233741400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr2:233740600-233741600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr2:233740600-233741600	Active TSS	Fetal Intestine Small	intestine
45	chr2:233740600-233741600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:233740600-233741800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:233740600-233741800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:233740600-233741800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:233740600-233741800	Active TSS	Brain Anterior Caudate	brain
50	chr2:233740600-233741800	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links