Variant report

Variant	rs7621847
Chromosome Location	chr3:156795881-156795882
allele	C/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	SMC3	chr3:156795515-156796156	HepG2	liver:	n/a	chr3:156795695-156795703
2	RAD21	chr3:156795425-156795900	H1-hESC	embryonic stem cell:	n/a	chr3:156795795-156795804 chr3:156795691-156795704
3	CTCF	chr3:156795740-156795890	HAc	cerebellar:	n/a	chr3:156795795-156795802
4	CTCF	chr3:156795760-156795910	HPF	lung:	n/a	chr3:156795795-156795802
5	IRF1	chr3:156795865-156796060	K562	blood:	n/a	chr3:156795924-156795934 chr3:156795924-156795938 chr3:156795918-156795935 chr3:156795923-156795935 chr3:156795920-156795934 chr3:156795923-156795934 chr3:156795922-156795933
6	MAX	chr3:156795316-156795942	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:156534268..156536474-chr3:156794522..156796810,2	MCF-7	breast:
2	chr3:156795065..156797909-chr3:156803634..156806168,2	MCF-7	breast:
3	chr3:156790821..156793384-chr3:156795606..156798078,2	MCF-7	breast:
4	chr3:156795318..156796174-chr3:156848039..156849028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241544	TF binding region
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11921057	1.00[EUR][1000 genomes]
rs1482867	1.00[EUR][1000 genomes]
rs16827190	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16827204	0.92[YRI][hapmap]
rs16827209	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16827338	1.00[EUR][1000 genomes]
rs16827388	1.00[EUR][1000 genomes]
rs2047651	1.00[EUR][1000 genomes]
rs2222405	1.00[EUR][1000 genomes]
rs4541362	1.00[EUR][1000 genomes]
rs56984599	1.00[EUR][1000 genomes]
rs57454874	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57676345	1.00[EUR][1000 genomes]
rs58897582	1.00[EUR][1000 genomes]
rs59516322	1.00[EUR][1000 genomes]
rs59536677	1.00[EUR][1000 genomes]
rs61469347	1.00[EUR][1000 genomes]
rs6441110	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778746	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778851	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6784920	1.00[EUR][1000 genomes]
rs6791852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6793139	1.00[EUR][1000 genomes]
rs73025844	1.00[EUR][1000 genomes]
rs73025863	1.00[EUR][1000 genomes]
rs73025882	1.00[EUR][1000 genomes]
rs73025895	1.00[EUR][1000 genomes]
rs73025901	1.00[EUR][1000 genomes]
rs73027741	1.00[EUR][1000 genomes]
rs73027753	1.00[EUR][1000 genomes]
rs73029518	1.00[EUR][1000 genomes]
rs73029521	1.00[EUR][1000 genomes]
rs73029526	1.00[EUR][1000 genomes]
rs7612563	1.00[EUR][1000 genomes]
rs7623236	1.00[EUR][1000 genomes]
rs7634624	1.00[EUR][1000 genomes]
rs7645166	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156789000-156805000	Weak transcription	Aorta	Aorta
2	chr3:156789200-156799200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:156790800-156797200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:156791400-156796800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:156791600-156796200	Enhancers	Brain Angular Gyrus	brain
6	chr3:156791800-156796000	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:156792400-156799000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:156793200-156796600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:156793400-156796200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:156793400-156796800	Enhancers	HSMMtube	muscle
11	chr3:156793400-156797000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:156793400-156797000	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:156793400-156798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:156793600-156799200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:156793600-156806000	Weak transcription	Primary T cells from cord blood	blood
16	chr3:156793800-156799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:156793800-156799200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:156793800-156799200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:156793800-156799600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:156794000-156796000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:156794000-156796200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:156794000-156796200	Enhancers	Fetal Muscle Leg	muscle
23	chr3:156794000-156796800	Enhancers	NHLF	lung
24	chr3:156794000-156799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:156794000-156799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:156794000-156799200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:156794000-156799400	Weak transcription	Fetal Thymus	thymus
28	chr3:156794000-156799800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:156794200-156797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:156794200-156799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:156794200-156799000	Weak transcription	HMEC	breast
32	chr3:156794200-156799200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:156794200-156799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:156794200-156804000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:156794400-156796200	Enhancers	Brain Hippocampus Middle	brain
36	chr3:156794400-156798800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:156794400-156799200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:156794400-156799600	Weak transcription	Liver	Liver
39	chr3:156794800-156796200	Enhancers	Fetal Muscle Trunk	muscle
40	chr3:156795000-156796000	Flanking Active TSS	HepG2	liver
41	chr3:156795000-156796200	Enhancers	Adipose Nuclei	Adipose
42	chr3:156795000-156796200	Enhancers	Placenta	Placenta
43	chr3:156795000-156796200	Enhancers	Pancreas	Pancrea
44	chr3:156795000-156796200	Enhancers	Psoas Muscle	Psoas
45	chr3:156795000-156796200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:156795000-156796200	Flanking Active TSS	Osteobl	bone
47	chr3:156795000-156797200	Enhancers	Fetal Heart	heart
48	chr3:156795000-156805000	Weak transcription	Right Ventricle	heart
49	chr3:156795200-156796000	Weak transcription	Right Atrium	heart
50	chr3:156795400-156796000	Flanking Active TSS	Brain Substantia Nigra	brain

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