Variant report

Variant	rs530127844
Chromosome Location	chr2:234262829-234262830
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	MBD4	chr2:234262127-234263030	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:234262646-234262982	GM12891	blood:	n/a	n/a
3	TCF7L2	chr2:234261810-234262830	Hela-S3	cervix:	n/a	chr2:234262366-234262375
4	RAD21	chr2:234262689-234263176	IMR90	lung:	n/a	chr2:234263033-234263052 chr2:234263038-234263048
5	CTCF	chr2:234262820-234263110	HFF	foreskin:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
6	TCF7L2	chr2:234262171-234262842	PANC-1	pancreas:	n/a	chr2:234262366-234262375
7	POLR2A	chr2:234262620-234262929	GM12891	blood:	n/a	n/a
8	CTCF	chr2:234262700-234262850	HMF	breast:	n/a	n/a
9	POLR2A	chr2:234262432-234262851	Hela-S3	cervix:	n/a	n/a
10	POU2F2	chr2:234262633-234262972	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:234261828-234263785	GM15510	blood:	n/a	n/a
12	TFAP2A	chr2:234261687-234262905	Hela-S3	cervix:	n/a	chr2:234262489-234262504 chr2:234261870-234261884
13	MTA3	chr2:234261824-234263079	GM12878	blood:	n/a	n/a
14	RUNX3	chr2:234262468-234263076	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:234262560-234263039	GM12878	blood:	n/a	n/a
16	BCLAF1	chr2:234262238-234262967	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:234262251-234263463	Hela-S3	cervix:	n/a	n/a
18	MAX	chr2:234262155-234262838	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:234262700-234262850	HRE	kidney:	n/a	n/a
20	MAZ	chr2:234262464-234264013	IMR90	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
21	REST	chr2:234262356-234263590	H1-neurons	neurons:	n/a	chr2:234263151-234263164 chr2:234263047-234263060
22	MXI1	chr2:234262437-234263323	GM12878	blood:	n/a	n/a
23	RAD21	chr2:234262755-234263088	GM12878	blood:	n/a	chr2:234263033-234263052 chr2:234263038-234263048
24	HCFC1	chr2:234262791-234262876	K562	blood:	n/a	n/a
25	CTCF	chr2:234262740-234262890	A549	lung:	n/a	n/a
26	MAZ	chr2:234262337-234263350	Hela-S3	cervix:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
27	PAX5	chr2:234262610-234262943	GM12878	blood:	n/a	chr2:234262771-234262780
28	CTCF	chr2:234262680-234262830	HCPEpiC	choroid plexus:	n/a	n/a
29	POLR2A	chr2:234261698-234263437	GM18505	blood:	n/a	n/a
30	E2F6	chr2:234262243-234263063	A549	lung:	n/a	chr2:234263041-234263050
31	NFIC	chr2:234262501-234263008	GM12878	blood:	n/a	n/a
32	CTCF	chr2:234262717-234263201	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
33	HMGN3	chr2:234262262-234263393	K562	blood:	n/a	chr2:234262456-234262463
34	PAX5	chr2:234262653-234262910	GM12892	blood:	n/a	chr2:234262771-234262780
35	TCF7L2	chr2:234262238-234262861	HEK293	kidney:	n/a	chr2:234262366-234262375
36	TBL1XR1	chr2:234262281-234263060	GM12878	blood:	n/a	n/a
37	MXI1	chr2:234262369-234263383	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:234262364-234262951	SK-N-MC	brain:	n/a	n/a
39	CTCF	chr2:234262700-234262850	AG04450	lung:	n/a	n/a
40	UBTF	chr2:234262288-234262835	K562	blood:	n/a	n/a
41	MEF2A	chr2:234262492-234263118	GM12878	blood:	n/a	chr2:234262922-234262936
42	POLR2A	chr2:234261859-234263455	GM12892	blood:	n/a	n/a
43	TAF1	chr2:234262611-234263040	GM12878	blood:	n/a	n/a
44	TCF3	chr2:234262675-234262874	GM12878	blood:	n/a	n/a
45	ELF1	chr2:234262601-234263475	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:234262397-234262958	GM12892	blood:	n/a	n/a
47	MTA3	chr2:234262450-234263016	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:234262031-234263352	GM12891	blood:	n/a	n/a
49	MAZ	chr2:234262219-234263331	K562	blood:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
50	POLR2A	chr2:234262362-234262934	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234262784-234262834	HCM	heart:	n/a
2	chr2:234262784-234262834	HL-60	blood:	n/a
3	chr2:234262784-234262834	AG09319	gingival:	n/a
4	chr2:234262784-234262834	AG10803	skin:	n/a
5	chr2:234262784-234262834	LNCaP	prostate:	n/a
6	chr2:234262784-234262834	HAEpiC	amniotic membrane:	n/a
7	chr2:234262784-234262834	HNPCEpiC	eye:	n/a
8	chr2:234262784-234262834	PANC-1	pancreas:	n/a
9	chr2:234262784-234262834	Hepatocyte	liver:	n/a
10	chr2:234262784-234262834	SK-N-SH_RA	brain:	n/a
11	chr2:234262784-234262834	ProgFib	skin:	n/a
12	chr2:234262784-234262834	K562	blood:	n/a
13	chr2:234262784-234262834	HMEC	breast:	n/a
14	chr2:234262784-234262834	SK-N-MC	brain:	n/a
15	chr2:234262784-234262834	AG04449	skin:	fetal
16	chr2:234262784-234262834	U87	brain:	n/a
17	chr2:234262784-234262834	MCF-7	breast:	n/a
18	chr2:234262784-234262834	H1-hESC	embryonic stem cell:	embryo
19	chr2:234262784-234262834	BE2_C	brain:	n/a
20	chr2:234262784-234262834	ECC-1	luminal epithelium:	n/a
21	chr2:234262784-234262834	NT2-D1	testis:	n/a
22	chr2:234262784-234262834	HCF	heart:	n/a
23	chr2:234262784-234262834	HIPEpiC	eye:	n/a
24	chr2:234262784-234262834	RPTEC	kidney:	n/a
25	chr2:234262784-234262834	NH-A	brain:	n/a
26	chr2:234262784-234262834	MCF10A-Er-Src	breast:	n/a
27	chr2:234262784-234262834	ovcar-3	ovarian:	n/a
28	chr2:234262784-234262834	BJ	skin:	n/a
29	chr2:234262784-234262834	CMK	blood:	n/a
30	chr2:234262784-234262834	HEK293	kidney:	embryo
31	chr2:234262784-234262834	HEEpiC	esophagus:	n/a
32	chr2:234262784-234262834	AoSMC	blood vessel:	n/a
33	chr2:234262784-234262834	NB4	blood:	n/a
34	chr2:234262784-234262834	Hela-S3	cervix:	n/a
35	chr2:234262784-234262834	HRPEpiC	eye:	n/a
36	chr2:234262784-234262834	SKMC	muscle:	n/a
37	chr2:234262784-234262834	GM12892	blood:	n/a
38	chr2:234262784-234262834	AG04450	lung:	fetal
39	chr2:234262784-234262834	SK-N-SH	brain:	n/a
40	chr2:234262784-234262834	HRE	kidney:	n/a
41	chr2:234262784-234262834	GM12878	blood:	n/a
42	chr2:234262784-234262834	NHBE	bronchial:	n/a
43	chr2:234262784-234262834	SAEC	small airway:	n/a
44	chr2:234262784-234262834	A549	lung:	n/a
45	chr2:234262784-234262834	HUVEC	blood vessel:	n/a
46	chr2:234262784-234262834	GM12891	blood:	n/a
47	chr2:234262784-234262834	HCT-116	colon:	n/a
48	chr2:234262784-234262834	Caco-2	colon:	n/a
49	chr2:234262784-234262834	GM06990	blood:	n/a
50	chr2:234262784-234262834	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
2	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
3	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
4	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
5	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000243637	TF binding region
DGKD	TF binding region
ENSG00000243637	CpG island
DGKD	CpG island
ENSG00000259793	CpG island
ENSG00000130561	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
3	chr2:234261400-234263000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr2:234261800-234263000	Flanking Active TSS	Colonic Mucosa	Colon
5	chr2:234261800-234263000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:234262000-234263000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr2:234262000-234263000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:234262000-234263000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:234262200-234263000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr2:234262200-234263000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr2:234262200-234263000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:234262200-234263000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:234262200-234264000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:234262200-234264000	Active TSS	Rectal Smooth Muscle	rectum
16	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:234262400-234263000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr2:234262400-234263000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:234262400-234263000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:234262400-234263000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:234262400-234263000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:234262400-234263000	Flanking Active TSS	Liver	Liver
23	chr2:234262400-234263000	Flanking Active TSS	Fetal Brain Male	brain
24	chr2:234262400-234263000	Flanking Active TSS	Fetal Heart	heart
25	chr2:234262400-234263000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr2:234262400-234263000	Flanking Active TSS	Fetal Thymus	thymus
27	chr2:234262400-234263000	Flanking Active TSS	Dnd41	blood
28	chr2:234262400-234263000	Flanking Active TSS	HMEC	breast
29	chr2:234262400-234263000	Flanking Active TSS	NH-A	brain
30	chr2:234262400-234263000	Flanking Active TSS	NHEK	skin
31	chr2:234262400-234263600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:234262400-234263800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:234262400-234263800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:234262400-234264200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
36	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:234262600-234263000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:234262600-234263000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:234262600-234263000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:234262600-234263600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:234262600-234263600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:234262600-234263800	Active TSS	Spleen	Spleen
43	chr2:234262600-234264000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:234262600-234264000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:234262600-234264000	Active TSS	Colon Smooth Muscle	Colon
46	chr2:234262600-234264000	Active TSS	Lung	lung
47	chr2:234262600-234264000	Bivalent/Poised TSS	HepG2	liver
48	chr2:234262600-234264200	Active TSS	Aorta	Aorta
49	chr2:234262600-234264200	Active TSS	Gastric	stomach
50	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links