Variant report

Variant	rs538672502
Chromosome Location	chr2:20441919-20441920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr2:20441918-20442167	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:20441903-20442272	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20441711-20442041	GM12892	blood:	n/a	n/a
4	CTCF	chr2:20441535-20442938	A549	lung:	n/a	chr2:20442906-20442915 chr2:20442579-20442588
5	POLR2A	chr2:20441830-20442080	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr2:20441826-20441939	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr2:20441847-20441963	GM19240	blood:	n/a	n/a
8	USF1	chr2:20441686-20442082	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:20441863-20441920	K562	blood:	n/a	n/a
10	POLR2A	chr2:20441732-20442025	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr2:20441740-20442075	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr2:20441880-20442030	HPF	lung:	n/a	n/a
13	USF1	chr2:20441695-20442015	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:20441766-20442229	GM12892	blood:	n/a	n/a
15	CTCF	chr2:20441800-20441950	GM12871	blood:	n/a	n/a
16	RAD21	chr2:20441885-20442725	H1-hESC	embryonic stem cell:	n/a	chr2:20442513-20442523 chr2:20442580-20442589 chr2:20442579-20442592
17	ELF1	chr2:20441870-20442271	GM12878	blood:	n/a	n/a
18	CTCF	chr2:20441872-20441974	GM10248	blood:	n/a	n/a
19	POLR2A	chr2:20441552-20442239	GM12892	blood:	n/a	n/a
20	BCL3	chr2:20441749-20442258	GM12878	blood:	n/a	chr2:20442206-20442215
21	POLR2A	chr2:20441646-20442174	SK-N-MC	brain:	n/a	n/a
22	USF1	chr2:20441750-20441949	GM12878	blood:	n/a	n/a
23	USF2	chr2:20441714-20442085	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:20441685-20442316	GM12891	blood:	n/a	n/a
25	CTCF	chr2:20441877-20442699	K562	blood:	n/a	chr2:20442579-20442588
26	POLR2A	chr2:20441272-20443298	HepG2	liver:	n/a	n/a
27	MAX	chr2:20441741-20442307	K562	blood:	n/a	n/a
28	CTCF	chr2:20441914-20442268	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:20441917-20441933	GM13977	blood:	n/a	n/a
30	POLR2A	chr2:20441793-20444944	A549	lung:	n/a	n/a
31	POLR2A	chr2:20441724-20442199	GM12891	blood:	n/a	n/a
32	CTCF	chr2:20441871-20441931	GM12891	blood:	n/a	n/a
33	POLR2A	chr2:20441703-20442193	GM12878	blood:	n/a	n/a
34	CTCF	chr2:20441860-20442010	GM12864	blood:	n/a	n/a
35	SMC3	chr2:20441919-20442293	K562	blood:	n/a	n/a
36	POLR2A	chr2:20441872-20442204	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:20441705-20442145	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20441905-20441955	AG09319	gingival:	n/a
2	chr2:20441905-20441955	GM12878	blood:	n/a
3	chr2:20441905-20441955	HAEpiC	amniotic membrane:	n/a
4	chr2:20441905-20441955	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:20441905-20441955	NT2-D1	testis:	n/a
6	chr2:20441905-20441955	HRCEpiC	kidney:	n/a
7	chr2:20441905-20441955	ProgFib	skin:	n/a
8	chr2:20441905-20441955	NB4	blood:	n/a
9	chr2:20441905-20441955	LNCaP	prostate:	n/a
10	chr2:20441905-20441955	MCF10A-Er-Src	breast:	n/a
11	chr2:20441905-20441955	U87	brain:	n/a
12	chr2:20441905-20441955	HL-60	blood:	n/a
13	chr2:20441905-20441955	GM12891	blood:	n/a
14	chr2:20441905-20441955	Hela-S3	cervix:	n/a
15	chr2:20441905-20441955	Jurkat	blood:	n/a
16	chr2:20441905-20441955	HEK293	kidney:	embryo
17	chr2:20441905-20441955	HNPCEpiC	eye:	n/a
18	chr2:20441905-20441955	SAEC	small airway:	n/a
19	chr2:20441905-20441955	AG04450	lung:	fetal
20	chr2:20441905-20441955	Hepatocyte	liver:	n/a
21	chr2:20441905-20441955	HEEpiC	esophagus:	n/a
22	chr2:20441905-20441955	HepG2	liver:	n/a
23	chr2:20441905-20441955	HUVEC	blood vessel:	n/a
24	chr2:20441905-20441955	SK-N-MC	brain:	n/a
25	chr2:20441905-20441955	T-47D	breast:	n/a
26	chr2:20441905-20441955	ECC-1	luminal epithelium:	n/a
27	chr2:20441905-20441955	CMK	blood:	n/a
28	chr2:20441905-20441955	SKMC	muscle:	n/a
29	chr2:20441905-20441955	AG09309	skin:	n/a
30	chr2:20441905-20441955	K562	blood:	n/a
31	chr2:20441905-20441955	Caco-2	colon:	n/a
32	chr2:20441905-20441955	ovcar-3	ovarian:	n/a
33	chr2:20441905-20441955	IMR90	lung:	fetal
34	chr2:20441905-20441955	AoSMC	blood vessel:	n/a
35	chr2:20441905-20441955	PFSK-1	brain:	n/a
36	chr2:20441905-20441955	GM06990	blood:	n/a
37	chr2:20441905-20441955	A549	lung:	n/a
38	chr2:20441905-20441955	NH-A	brain:	n/a
39	chr2:20441905-20441955	HRE	kidney:	n/a
40	chr2:20441905-20441955	NHDF-neo	bronchial:	n/a
41	chr2:20441905-20441955	PrEC	prostate:	n/a
42	chr2:20441905-20441955	HCM	heart:	n/a
43	chr2:20441905-20441955	BE2_C	brain:	n/a
44	chr2:20441905-20441955	GM19239	blood:	n/a
45	chr2:20441905-20441955	NHBE	bronchial:	n/a
46	chr2:20441905-20441955	RPTEC	kidney:	n/a
47	chr2:20441905-20441955	SK-N-SH_RA	brain:	n/a
48	chr2:20441905-20441955	H1-hESC	embryonic stem cell:	embryo
49	chr2:20441905-20441955	HMEC	breast:	n/a
50	chr2:20441905-20441955	HCPEpiC	choroid plexus:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20441705..20442588-chr2:20850479..20850992,2	K562	blood:
2	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
3	chr2:20425935..20426603-chr2:20441699..20442616,3	MCF-7	breast:
4	chr2:20438741..20440683-chr2:20441500..20444456,2	MCF-7	breast:
5	chr2:20437602..20439619-chr2:20440851..20444211,3	MCF-7	breast:
6	chr2:20441679..20444514-chr2:20449489..20452544,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235411	TF binding region
ENSG00000235411	CpG island
ENSG00000118960	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3449290	chr2:20441521-20443469	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431800-20444200	Weak transcription	A549	lung
4	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:20436600-20452600	Weak transcription	Gastric	stomach
10	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
12	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:20437800-20448000	Weak transcription	HMEC	breast
15	chr2:20438000-20445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:20440200-20444400	Enhancers	Placenta	Placenta
19	chr2:20440600-20443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:20440800-20445600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:20441200-20442000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:20441400-20442000	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:20441400-20442000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:20441400-20442000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:20441400-20442000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:20441400-20442000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:20441400-20442000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:20441400-20442000	Enhancers	Right Atrium	heart
35	chr2:20441400-20442000	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:20441400-20442200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:20441400-20442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:20441600-20442200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:20441600-20442200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:20441600-20442200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:20441800-20442000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:20441800-20442000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr2:20441800-20442000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr2:20441800-20442000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:20441800-20442000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:20441800-20442000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:20441800-20442000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:20441800-20442000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:20441800-20442000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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