Variant report

Variant	rs3755000
Chromosome Location	chr2:86830876-86830877
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:86830845-86831635	K562	blood:	n/a	n/a
2	POLR2A	chr2:86830819-86832124	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86830855-86830905	HNPCEpiC	eye:	n/a
2	chr2:86830855-86830905	RPTEC	kidney:	n/a
3	chr2:86830855-86830905	NHDF-neo	bronchial:	n/a
4	chr2:86830855-86830905	ProgFib	skin:	n/a
5	chr2:86830855-86830905	H1-hESC	embryonic stem cell:	embryo
6	chr2:86830855-86830905	BJ	skin:	n/a
7	chr2:86830855-86830905	AG10803	skin:	n/a
8	chr2:86830855-86830905	A549	lung:	n/a
9	chr2:86830855-86830905	MCF-7	breast:	n/a
10	chr2:86830855-86830905	IMR90	lung:	fetal
11	chr2:86830855-86830905	ECC-1	luminal epithelium:	n/a
12	chr2:86830855-86830905	HRPEpiC	eye:	n/a
13	chr2:86830855-86830905	HRCEpiC	kidney:	n/a
14	chr2:86830855-86830905	PrEC	prostate:	n/a
15	chr2:86830855-86830905	CMK	blood:	n/a
16	chr2:86830855-86830905	Caco-2	colon:	n/a
17	chr2:86830855-86830905	SK-N-MC	brain:	n/a
18	chr2:86830855-86830905	GM06990	blood:	n/a
19	chr2:86830855-86830905	HEK293	kidney:	embryo
20	chr2:86830855-86830905	NH-A	brain:	n/a
21	chr2:86830855-86830905	Hela-S3	cervix:	n/a
22	chr2:86830855-86830905	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:86830855-86830905	AG09319	gingival:	n/a
24	chr2:86830855-86830905	PANC-1	pancreas:	n/a
25	chr2:86830855-86830905	HIPEpiC	eye:	n/a
26	chr2:86830855-86830905	AG04449	skin:	fetal
27	chr2:86830855-86830905	NB4	blood:	n/a
28	chr2:86830855-86830905	AG04450	lung:	fetal
29	chr2:86830855-86830905	U87	brain:	n/a
30	chr2:86830855-86830905	K562	blood:	n/a
31	chr2:86830855-86830905	SKMC	muscle:	n/a
32	chr2:86830855-86830905	SAEC	small airway:	n/a
33	chr2:86830855-86830905	HAEpiC	amniotic membrane:	n/a
34	chr2:86830855-86830905	T-47D	breast:	n/a
35	chr2:86830855-86830905	AG09309	skin:	n/a
36	chr2:86830855-86830905	GM12892	blood:	n/a
37	chr2:86830855-86830905	HCM	heart:	n/a
38	chr2:86830855-86830905	HCPEpiC	choroid plexus:	n/a
39	chr2:86830855-86830905	NT2-D1	testis:	n/a
40	chr2:86830855-86830905	Jurkat	blood:	n/a
41	chr2:86830855-86830905	SK-N-SH_RA	brain:	n/a
42	chr2:86830855-86830905	HCF	heart:	n/a
43	chr2:86830855-86830905	ovcar-3	ovarian:	n/a
44	chr2:86830855-86830905	HRE	kidney:	n/a
45	chr2:86830855-86830905	HMEC	breast:	n/a
46	chr2:86830855-86830905	HepG2	liver:	n/a
47	chr2:86830855-86830905	GM19239	blood:	n/a
48	chr2:86830855-86830905	HEEpiC	esophagus:	n/a
49	chr2:86830855-86830905	PFSK-1	brain:	n/a
50	chr2:86830855-86830905	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228363	TF binding region
ENSG00000228363	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13023294	1.00[CHB][hapmap]
rs13394423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs3731811	0.89[ASN][1000 genomes]
rs3810829	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3821013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41318646	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap]
rs41374146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58860972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934421	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7592868	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819800-86831000	Weak transcription	Fetal Brain Female	brain
2	chr2:86820200-86831000	Weak transcription	Fetal Brain Male	brain
3	chr2:86820200-86831000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:86820600-86831000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
6	chr2:86823600-86831200	Weak transcription	HSMMtube	muscle
7	chr2:86824000-86831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:86824600-86840600	Weak transcription	Fetal Heart	heart
9	chr2:86824800-86831000	Weak transcription	Left Ventricle	heart
10	chr2:86825400-86849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:86825800-86831000	Weak transcription	Liver	Liver
12	chr2:86826000-86831000	Weak transcription	HUVEC	blood vessel
13	chr2:86826400-86831000	Weak transcription	Hela-S3	cervix
14	chr2:86826600-86831000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:86826600-86831000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:86826600-86831000	Weak transcription	Aorta	Aorta
17	chr2:86826600-86831000	Weak transcription	Gastric	stomach
18	chr2:86826800-86831000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:86826800-86831000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:86826800-86831200	Weak transcription	Right Ventricle	heart
21	chr2:86826800-86842000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:86826800-86847800	Weak transcription	NHEK	skin
23	chr2:86827000-86831000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:86827200-86831000	Weak transcription	Lung	lung
25	chr2:86827200-86831000	Weak transcription	K562	blood
26	chr2:86827200-86835600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:86827600-86831000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:86827600-86831000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:86827600-86831000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:86827800-86831000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:86827800-86831000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:86828200-86831000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:86828200-86831200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:86828200-86831200	Weak transcription	NHDF-Ad	bronchial
35	chr2:86828200-86847800	Weak transcription	NHLF	lung
36	chr2:86828400-86831000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:86828400-86831000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:86828400-86831000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:86828400-86831800	Strong transcription	Fetal Stomach	stomach
40	chr2:86828600-86831000	Weak transcription	HSMM	muscle
41	chr2:86828800-86831400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:86828800-86836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:86829000-86833000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:86829000-86845400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:86829200-86831000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:86829200-86831000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:86829200-86831000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:86829200-86831000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:86829200-86831000	Weak transcription	HepG2	liver
50	chr2:86829200-86831000	Weak transcription	Monocytes-CD14+_RO01746	blood

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