Variant report

Variant	rs4575928
Chromosome Location	chr3:99816932-99816933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99808255..99810946-chr3:99815200..99817983,2	MCF-7	breast:
2	chr3:99809166..99811097-chr3:99816602..99818657,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11719143	1.00[MEX][hapmap]
rs12633530	1.00[LWK][hapmap]
rs185752	1.00[LWK][hapmap]
rs4411918	1.00[LWK][hapmap]
rs4630975	1.00[LWK][hapmap]
rs4643740	1.00[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:99795800-99866600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99806200-99818600	Weak transcription	HSMM	muscle
3	chr3:99809200-99823000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:99809200-99824400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:99809600-99817000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:99809600-99817200	Weak transcription	Small Intestine	intestine
7	chr3:99809600-99821200	Weak transcription	Aorta	Aorta
8	chr3:99809600-99822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:99809800-99818600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:99809800-99822000	Weak transcription	Left Ventricle	heart
11	chr3:99809800-99822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:99809800-99824400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:99811400-99817000	Weak transcription	Fetal Lung	lung
14	chr3:99813000-99817000	Weak transcription	NHDF-Ad	bronchial
15	chr3:99813000-99817000	Weak transcription	NHLF	lung
16	chr3:99813000-99823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:99813000-99823600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:99815200-99823000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:99815600-99817000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:99815800-99817000	Enhancers	Brain Hippocampus Middle	brain
21	chr3:99815800-99817000	Enhancers	HepG2	liver
22	chr3:99815800-99818200	Enhancers	Liver	Liver
23	chr3:99815800-99818800	Enhancers	Fetal Intestine Large	intestine
24	chr3:99816000-99822800	Weak transcription	Right Atrium	heart
25	chr3:99816000-99823000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:99816200-99817000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:99816200-99817800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:99816200-99817800	Enhancers	Adipose Nuclei	Adipose
29	chr3:99816200-99818600	Weak transcription	Psoas Muscle	Psoas
30	chr3:99816200-99818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:99816200-99818800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:99816200-99818800	Weak transcription	Ovary	ovary
33	chr3:99816200-99819400	Enhancers	Fetal Heart	heart
34	chr3:99816400-99817000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:99816400-99817000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr3:99816400-99817400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:99816600-99817000	Weak transcription	Fetal Intestine Small	intestine
38	chr3:99816600-99817600	Enhancers	Rectal Smooth Muscle	rectum
39	chr3:99816600-99818000	Enhancers	Colon Smooth Muscle	Colon
40	chr3:99816600-99818000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:99816800-99817000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:99816800-99817600	Enhancers	Fetal Kidney	kidney
43	chr3:99816800-99817600	Enhancers	Stomach Smooth Muscle	stomach
44	chr3:99816800-99817800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:99816800-99817800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:99816800-99817800	Enhancers	Osteobl	bone
47	chr3:99816800-99820400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:99816800-99820400	Enhancers	HSMMtube	muscle

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