Variant report

Variant	rs1387648
Chromosome Location	chr3:99726527-99726528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99725260..99727118-chr3:99731245..99734144,3	K562	blood:
2	chr3:99720592..99723772-chr3:99724475..99727275,3	MCF-7	breast:
3	chr3:99720235..99722178-chr3:99725439..99727332,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12330859	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs13327351	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs16841824	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs16841897	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4434174	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs9819861	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9820656	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9825938	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9829693	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9841296	1.00[ASW][hapmap]
rs9862384	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9871820	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9883757	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][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	nsv999332	chr3:99690207-99774720	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99713600-99787800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99716400-99758800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:99720200-99727600	Enhancers	Stomach Mucosa	stomach
4	chr3:99721400-99729400	Enhancers	HUVEC	blood vessel
5	chr3:99722400-99727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:99722400-99741400	Weak transcription	Aorta	Aorta
7	chr3:99722400-99751000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:99722600-99741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:99723600-99727000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:99723800-99727600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:99724000-99727200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:99724000-99727400	Enhancers	Hela-S3	cervix
13	chr3:99724000-99729000	Enhancers	Fetal Kidney	kidney
14	chr3:99724200-99728400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:99724400-99727600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:99724600-99727800	Enhancers	Adipose Nuclei	Adipose
17	chr3:99724800-99726800	Weak transcription	HMEC	breast
18	chr3:99724800-99727400	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:99725000-99726800	Weak transcription	Fetal Intestine Small	intestine
20	chr3:99725000-99726800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:99725000-99745600	Weak transcription	Left Ventricle	heart
22	chr3:99725200-99726600	Weak transcription	Small Intestine	intestine
23	chr3:99725200-99726800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:99725200-99743600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:99725600-99726800	Weak transcription	NHEK	skin
26	chr3:99725800-99726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:99725800-99727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:99725800-99727000	Weak transcription	NH-A	brain
29	chr3:99725800-99728200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:99725800-99728600	Weak transcription	Fetal Lung	lung
31	chr3:99726000-99728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:99726000-99729000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:99726000-99733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:99726200-99726600	Enhancers	Fetal Stomach	stomach
35	chr3:99726200-99728800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:99726200-99729600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:99726400-99727000	Enhancers	Fetal Muscle Leg	muscle
38	chr3:99726400-99727000	Enhancers	Right Atrium	heart
39	chr3:99726400-99727200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:99726400-99727400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:99726400-99727400	Enhancers	Psoas Muscle	Psoas
42	chr3:99726400-99727600	Enhancers	Fetal Heart	heart
43	chr3:99726400-99727600	Enhancers	K562	blood
44	chr3:99726400-99727800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:99726400-99748200	Weak transcription	HSMM	muscle

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