Variant report

Variant	rs73935045
Chromosome Location	chr2:64250620-64250621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64250606-64250656	ECC-1	luminal epithelium:	n/a
2	chr2:64250606-64250656	HAEpiC	amniotic membrane:	n/a
3	chr2:64250606-64250656	T-47D	breast:	n/a
4	chr2:64250606-64250656	NHBE	bronchial:	n/a
5	chr2:64250606-64250656	GM06990	blood:	n/a
6	chr2:64250606-64250656	H1-hESC	embryonic stem cell:	embryo
7	chr2:64250606-64250656	BJ	skin:	n/a
8	chr2:64250606-64250656	NT2-D1	testis:	n/a
9	chr2:64250606-64250656	PFSK-1	brain:	n/a
10	chr2:64250606-64250656	GM12892	blood:	n/a
11	chr2:64250606-64250656	SKMC	muscle:	n/a
12	chr2:64250606-64250656	HRE	kidney:	n/a
13	chr2:64250606-64250656	SK-N-MC	brain:	n/a
14	chr2:64250606-64250656	Hepatocyte	liver:	n/a
15	chr2:64250606-64250656	HCT-116	colon:	n/a
16	chr2:64250606-64250656	CMK	blood:	n/a
17	chr2:64250606-64250656	HCF	heart:	n/a
18	chr2:64250606-64250656	HCPEpiC	choroid plexus:	n/a
19	chr2:64250606-64250656	HCM	heart:	n/a
20	chr2:64250606-64250656	Caco-2	colon:	n/a
21	chr2:64250606-64250656	HIPEpiC	eye:	n/a
22	chr2:64250606-64250656	SAEC	small airway:	n/a
23	chr2:64250606-64250656	SK-N-SH	brain:	n/a
24	chr2:64250606-64250656	NB4	blood:	n/a
25	chr2:64250606-64250656	HMEC	breast:	n/a
26	chr2:64250606-64250656	PANC-1	pancreas:	n/a
27	chr2:64250606-64250656	Jurkat	blood:	n/a
28	chr2:64250606-64250656	HRPEpiC	eye:	n/a
29	chr2:64250606-64250656	HUVEC	blood vessel:	n/a
30	chr2:64250606-64250656	K562	blood:	n/a
31	chr2:64250606-64250656	BE2_C	brain:	n/a
32	chr2:64250606-64250656	GM12891	blood:	n/a
33	chr2:64250606-64250656	NH-A	brain:	n/a
34	chr2:64250606-64250656	LNCaP	prostate:	n/a
35	chr2:64250606-64250656	ProgFib	skin:	n/a
36	chr2:64250606-64250656	AG09319	gingival:	n/a
37	chr2:64250606-64250656	HEK293	kidney:	embryo
38	chr2:64250606-64250656	HNPCEpiC	eye:	n/a
39	chr2:64250606-64250656	MCF10A-Er-Src	breast:	n/a
40	chr2:64250606-64250656	U87	brain:	n/a
41	chr2:64250606-64250656	ovcar-3	ovarian:	n/a
42	chr2:64250606-64250656	NHDF-neo	bronchial:	n/a
43	chr2:64250606-64250656	AG04450	lung:	fetal
44	chr2:64250606-64250656	AG10803	skin:	n/a
45	chr2:64250606-64250656	RPTEC	kidney:	n/a
46	chr2:64250606-64250656	HL-60	blood:	n/a
47	chr2:64250606-64250656	MCF-7	breast:	n/a
48	chr2:64250606-64250656	GM12878	blood:	n/a
49	chr2:64250606-64250656	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:64250606-64250656	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64244419..64248447-chr2:64249482..64256147,6	MCF-7	breast:

No data

Variant related genes	Relation type
VPS54	CpG island
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs61651647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6546047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736162	1.00[AMR][1000 genomes]
rs6736718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743681	0.94[AFR][1000 genomes]
rs6755620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935030	1.00[AMR][1000 genomes]
rs73935042	1.00[AMR][1000 genomes]
rs73935043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935047	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602730	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247000-64250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64247200-64250800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:64247200-64250800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:64247200-64251000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:64247200-64251000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:64247200-64251000	Weak transcription	Fetal Thymus	thymus
7	chr2:64247200-64251000	Weak transcription	Pancreas	Pancrea
8	chr2:64247200-64251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:64247200-64254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:64247400-64250800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:64247400-64250800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:64247400-64250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:64247400-64250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:64247400-64250800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:64247400-64253000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:64247400-64253800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:64247600-64250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:64247600-64251000	Weak transcription	GM12878-XiMat	blood
19	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:64247800-64250800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:64247800-64250800	Weak transcription	Dnd41	blood
22	chr2:64248000-64251000	Weak transcription	Thymus	Thymus
23	chr2:64248000-64252600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:64248400-64250800	Weak transcription	Small Intestine	intestine
25	chr2:64248400-64252600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:64249000-64250800	Weak transcription	Fetal Intestine Large	intestine
27	chr2:64249000-64251200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:64249000-64252400	Weak transcription	Primary T cells from cord blood	blood
29	chr2:64249000-64252600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:64249000-64252600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:64249000-64254000	Weak transcription	K562	blood
32	chr2:64249000-64256200	Weak transcription	NHDF-Ad	bronchial
33	chr2:64249200-64252200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:64249200-64252400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:64249200-64253000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:64249200-64253200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:64249600-64250800	Weak transcription	A549	lung
38	chr2:64250600-64251400	Enhancers	Stomach Mucosa	stomach
39	chr2:64250600-64252000	Flanking Active TSS	HepG2	liver
40	chr2:64250600-64252600	Enhancers	Liver	Liver

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