Variant report

Variant	rs57966158
Chromosome Location	chr2:96991776-96991777
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	POLR2A	chr2:96991717-96991966	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:96990449-96992083	GM18505	blood:	n/a	n/a
3	POLR2A	chr2:96990373-96992120	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:96990382-96992035	GM12878	blood:	n/a	n/a
5	MTA3	chr2:96990214-96992028	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:96991775-96991864	HepG2	liver:	n/a	n/a
7	WRNIP1	chr2:96991623-96991829	GM12878	blood:	n/a	n/a
8	MXI1	chr2:96990269-96992115	SK-N-SH	brain:	n/a	chr2:96990546-96990555 chr2:96990546-96990555
9	CTCF	chr2:96991700-96991850	GM12864	blood:	n/a	chr2:96991799-96991812
10	POLR2A	chr2:96991431-96992000	GM12878	blood:	n/a	n/a
11	CTCF	chr2:96991758-96991878	GM19240	blood:	n/a	chr2:96991799-96991812
12	RCOR1	chr2:96990623-96991950	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:96991620-96991999	GM15510	blood:	n/a	n/a
14	CTCF	chr2:96991720-96991870	GM12865	blood:	n/a	chr2:96991799-96991812
15	ELF1	chr2:96990733-96992064	GM12878	blood:	n/a	n/a
16	PML	chr2:96990338-96992006	GM12878	blood:	n/a	n/a
17	SPI1	chr2:96991701-96992059	GM12891	blood:	n/a	chr2:96991907-96991914
18	SPI1	chr2:96991757-96992060	GM12891	blood:	n/a	chr2:96991907-96991914
19	TBL1XR1	chr2:96991414-96991795	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:96990680-96991928	HepG2	liver:	n/a	n/a
21	CTCF	chr2:96991735-96991882	GM12891	blood:	n/a	chr2:96991799-96991812
22	MXI1	chr2:96991380-96991796	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr2:96990351-96991951	HepG2	liver:	n/a	chr2:96990545-96990555 chr2:96990545-96990554 chr2:96990544-96990555 chr2:96990544-96990555 chr2:96990545-96990554 chr2:96990545-96990554
24	POLR2A	chr2:96990501-96992014	GM12892	blood:	n/a	n/a
25	POLR2A	chr2:96990582-96992027	GM19193	blood:	n/a	n/a
26	POLR2A	chr2:96990592-96991981	GM18951	blood:	n/a	n/a
27	POLR2A	chr2:96991519-96991993	GM12892	blood:	n/a	n/a
28	CTCF	chr2:96991755-96991881	GM12892	blood:	n/a	chr2:96991799-96991812
29	CTCF	chr2:96991760-96991910	GM12871	blood:	n/a	chr2:96991799-96991812
30	POLR2A	chr2:96990368-96992169	GM12891	blood:	n/a	n/a
31	CHD2	chr2:96991227-96991859	GM12878	blood:	n/a	n/a
32	CTCF	chr2:96991660-96991810	GM12873	blood:	n/a	n/a
33	POLR2A	chr2:96991630-96991986	GM12878	blood:	n/a	n/a
34	SPI1	chr2:96991734-96992091	GM12878	blood:	n/a	chr2:96991907-96991914
35	POLR2A	chr2:96990576-96991797	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr2:96991559-96992021	GM12891	blood:	n/a	n/a
37	MXI1	chr2:96990419-96992017	GM12878	blood:	n/a	chr2:96990546-96990555 chr2:96990546-96990555
38	NFATC1	chr2:96991540-96991937	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:96990290-96992072	Raji	blood:	n/a	n/a
40	CTCF	chr2:96991760-96991910	GM12874	blood:	n/a	chr2:96991799-96991812
41	CTCF	chr2:96991760-96991910	GM12872	blood:	n/a	chr2:96991799-96991812
42	CTCF	chr2:96991720-96991870	GM12868	blood:	n/a	chr2:96991799-96991812
43	SIN3A	chr2:96990543-96991868	H1-hESC	embryonic stem cell:	n/a	chr2:96990980-96990993 chr2:96990546-96990555
44	MAX	chr2:96990398-96991881	GM12878	blood:	n/a	chr2:96990545-96990555 chr2:96990545-96990554 chr2:96990544-96990555 chr2:96990544-96990555 chr2:96990545-96990554 chr2:96990545-96990554
45	EBF1	chr2:96991469-96992011	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:96991639-96992062	GM12892	blood:	n/a	n/a
47	CTCF	chr2:96991627-96991959	GM12878	blood:	n/a	chr2:96991799-96991812
48	SPI1	chr2:96991769-96991988	K562	blood:	n/a	chr2:96991907-96991914

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96991753-96991803	PANC-1	pancreas:	n/a
2	chr2:96991753-96991803	NH-A	brain:	n/a
3	chr2:96991753-96991803	Hepatocyte	liver:	n/a
4	chr2:96991753-96991803	RPTEC	kidney:	n/a
5	chr2:96991753-96991803	SK-N-MC	brain:	n/a
6	chr2:96991753-96991803	SKMC	muscle:	n/a
7	chr2:96991753-96991803	HL-60	blood:	n/a
8	chr2:96991753-96991803	ProgFib	skin:	n/a
9	chr2:96991753-96991803	Hela-S3	cervix:	n/a
10	chr2:96991753-96991803	MCF10A-Er-Src	breast:	n/a
11	chr2:96991753-96991803	AoSMC	blood vessel:	n/a
12	chr2:96991753-96991803	ECC-1	luminal epithelium:	n/a
13	chr2:96991753-96991803	HAEpiC	amniotic membrane:	n/a
14	chr2:96991753-96991803	HCM	heart:	n/a
15	chr2:96991753-96991803	AG04449	skin:	fetal
16	chr2:96991753-96991803	ovcar-3	ovarian:	n/a
17	chr2:96991753-96991803	GM06990	blood:	n/a
18	chr2:96991753-96991803	T-47D	breast:	n/a
19	chr2:96991753-96991803	HMEC	breast:	n/a
20	chr2:96991753-96991803	IMR90	lung:	fetal
21	chr2:96991753-96991803	NB4	blood:	n/a
22	chr2:96991753-96991803	A549	lung:	n/a
23	chr2:96991753-96991803	HepG2	liver:	n/a
24	chr2:96991753-96991803	AG09309	skin:	n/a
25	chr2:96991753-96991803	HCF	heart:	n/a
26	chr2:96991753-96991803	Jurkat	blood:	n/a
27	chr2:96991753-96991803	AG10803	skin:	n/a
28	chr2:96991753-96991803	HUVEC	blood vessel:	n/a
29	chr2:96991753-96991803	HRPEpiC	eye:	n/a
30	chr2:96991753-96991803	GM12892	blood:	n/a
31	chr2:96991753-96991803	HEK293	kidney:	embryo
32	chr2:96991753-96991803	H1-hESC	embryonic stem cell:	embryo
33	chr2:96991753-96991803	AG04450	lung:	fetal
34	chr2:96991753-96991803	HIPEpiC	eye:	n/a
35	chr2:96991753-96991803	GM12891	blood:	n/a
36	chr2:96991753-96991803	HCPEpiC	choroid plexus:	n/a
37	chr2:96991753-96991803	MCF-7	breast:	n/a
38	chr2:96991753-96991803	HRE	kidney:	n/a
39	chr2:96991753-96991803	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:96991753-96991803	HNPCEpiC	eye:	n/a
41	chr2:96991753-96991803	PFSK-1	brain:	n/a
42	chr2:96991753-96991803	U87	brain:	n/a
43	chr2:96991753-96991803	PrEC	prostate:	n/a
44	chr2:96991753-96991803	BE2_C	brain:	n/a
45	chr2:96991753-96991803	SK-N-SH	brain:	n/a
46	chr2:96991753-96991803	HRCEpiC	kidney:	n/a
47	chr2:96991753-96991803	HEEpiC	esophagus:	n/a
48	chr2:96991753-96991803	NT2-D1	testis:	n/a
49	chr2:96991753-96991803	LNCaP	prostate:	n/a
50	chr2:96991753-96991803	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96967785..96972096-chr2:96987875..96991841,5	K562	blood:
2	chr2:96874014..96875585-chr2:96990690..96992909,2	K562	blood:
3	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
4	chr2:96971195..96973076-chr2:96991103..96992730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230747	TF binding region
ITPRIPL1	TF binding region
ENSG00000230747	CpG island
ITPRIPL1	CpG island
ENSG00000144028	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58224517	0.86[AFR][1000 genomes]
rs61225141	0.86[AFR][1000 genomes]
rs6721923	1.00[AFR][1000 genomes]
rs72937668	1.00[AFR][1000 genomes]
rs72937669	1.00[AFR][1000 genomes]
rs72937670	1.00[AFR][1000 genomes]
rs72937680	1.00[AFR][1000 genomes]
rs72937692	0.86[AFR][1000 genomes]
rs72939354	0.83[AFR][1000 genomes]
rs72939616	0.86[AFR][1000 genomes]
rs72939640	0.86[AFR][1000 genomes]
rs72947357	0.86[AFR][1000 genomes]
rs72947387	0.86[AFR][1000 genomes]
rs72947401	0.86[AFR][1000 genomes]
rs7609551	1.00[AFR][1000 genomes]

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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96990200-96991800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr2:96990400-96992000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:96990400-96992000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr2:96990400-96992000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:96990400-96992200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:96990600-96991800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:96990600-96991800	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr2:96990600-96991800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr2:96990600-96991800	Active TSS	Right Atrium	heart
10	chr2:96990600-96991800	Bivalent/Poised TSS	NH-A	brain
11	chr2:96990600-96992000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:96990600-96992000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:96990600-96992000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr2:96990600-96992000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr2:96990600-96992000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:96990600-96992000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr2:96990600-96992000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr2:96990600-96992000	Bivalent/Poised TSS	NHLF	lung
19	chr2:96990600-96992200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:96990600-96992400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:96990600-96992600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:96990800-96991800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:96990800-96991800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:96990800-96991800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:96990800-96991800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:96990800-96991800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:96990800-96991800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr2:96990800-96991800	Active TSS	Brain Anterior Caudate	brain
29	chr2:96990800-96991800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr2:96990800-96991800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:96990800-96991800	Active TSS	Fetal Kidney	kidney
32	chr2:96990800-96991800	Flanking Active TSS	Pancreas	Pancrea
33	chr2:96990800-96991800	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr2:96990800-96991800	Active TSS	GM12878-XiMat	blood
35	chr2:96990800-96991800	Active TSS	K562	blood
36	chr2:96990800-96991800	Active TSS	NHDF-Ad	bronchial
37	chr2:96990800-96991800	Active TSS	Osteobl	bone
38	chr2:96990800-96992000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr2:96990800-96992000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:96990800-96992200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:96991000-96991800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:96991000-96991800	Active TSS	Brain Hippocampus Middle	brain
43	chr2:96991000-96992000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:96991000-96992000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr2:96991200-96991800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr2:96991200-96991800	Flanking Active TSS	Placenta	Placenta
47	chr2:96991200-96992000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:96991200-96992000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:96991200-96992000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:96991200-96992000	Flanking Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links