Variant report

Variant	rs4630975
Chromosome Location	chr3:99618204-99618205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99586883..99589677-chr3:99616438..99618388,2	K562	blood:
2	chr3:99595513..99598055-chr3:99616729..99618510,2	K562	blood:
3	chr3:99617788..99620536-chr3:99977844..99981693,3	MCF-7	breast:
4	chr3:99616272..99618855-chr3:99619104..99622005,3	MCF-7	breast:
5	chr3:99593363..99597253-chr3:99616411..99618781,5	K562	blood:

Variant related genes	Relation type
ENSG00000168386	Chromatin interaction
ENSG00000036054	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12633530	1.00[LWK][hapmap]
rs12636176	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17778804	1.00[JPT][hapmap]
rs4411918	1.00[LWK][hapmap]
rs4434174	1.00[JPT][hapmap]
rs4575928	1.00[LWK][hapmap]
rs4643740	1.00[LWK][hapmap]
rs9818271	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99614800-99619400	Weak transcription	Psoas Muscle	Psoas
4	chr3:99615000-99619400	Weak transcription	Fetal Lung	lung
5	chr3:99615200-99619400	Weak transcription	Brain Angular Gyrus	brain
6	chr3:99615200-99620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:99615400-99618400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:99615400-99618600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:99615400-99619600	Weak transcription	Stomach Mucosa	stomach
10	chr3:99615400-99619600	Weak transcription	HSMMtube	muscle
11	chr3:99615400-99619800	Weak transcription	Fetal Stomach	stomach
12	chr3:99615400-99619800	Enhancers	NHDF-Ad	bronchial
13	chr3:99615400-99620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:99615600-99619200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:99615600-99619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:99615600-99619400	Weak transcription	A549	lung
17	chr3:99615600-99619600	Weak transcription	HSMM	muscle
18	chr3:99615600-99619800	Weak transcription	GM12878-XiMat	blood
19	chr3:99615800-99618400	Weak transcription	NHEK	skin
20	chr3:99615800-99618600	Weak transcription	Hela-S3	cervix
21	chr3:99615800-99619400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:99615800-99619400	Weak transcription	NH-A	brain
23	chr3:99615800-99619400	Weak transcription	Osteobl	bone
24	chr3:99615800-99619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:99615800-99619800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:99615800-99619800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:99616000-99618600	Weak transcription	HMEC	breast
28	chr3:99616000-99619200	Weak transcription	HUVEC	blood vessel
29	chr3:99616000-99619600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:99616000-99620200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:99616000-99620400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
33	chr3:99616200-99619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:99616200-99619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:99616200-99619400	Weak transcription	Brain Germinal Matrix	brain
36	chr3:99616200-99619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:99616400-99619200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:99616400-99619200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:99616600-99618600	Weak transcription	HepG2	liver
40	chr3:99616600-99619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:99616600-99622800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:99617000-99618800	Enhancers	NHLF	lung
43	chr3:99617200-99623200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:99617600-99619600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:99617800-99618800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:99618000-99619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:99618200-99619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:99618200-99619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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