Variant report

Variant	rs185752
Chromosome Location	chr3:99873983-99873984
allele	A/C
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	POLR2A	chr3:99873877-99874279	HL-60	blood:	n/a	n/a
2	TCF12	chr3:99873916-99874631	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr3:99873890-99874638	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CMSS1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12633530	1.00[LWK][hapmap]
rs4411918	1.00[LWK][hapmap]
rs4575928	1.00[LWK][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99856000-99877800	Weak transcription	Ovary	ovary
2	chr3:99858600-99877200	Weak transcription	HSMM	muscle
3	chr3:99860200-99874000	Weak transcription	A549	lung
4	chr3:99862200-99874200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:99863400-99874000	Weak transcription	NHEK	skin
6	chr3:99863600-99874000	Weak transcription	GM12878-XiMat	blood
7	chr3:99863800-99874000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:99864400-99886600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:99865000-99894600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:99865600-99898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:99866000-99874000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:99866400-99874200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:99867200-99874000	Weak transcription	K562	blood
14	chr3:99867400-99874000	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:99867600-99874000	Weak transcription	Dnd41	blood
16	chr3:99868000-99897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:99868400-99874000	Weak transcription	HepG2	liver
18	chr3:99869000-99874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:99869000-99874800	Weak transcription	Thymus	Thymus
20	chr3:99869000-99876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:99869000-99895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:99869000-99897800	Weak transcription	Pancreas	Pancrea
23	chr3:99869400-99874000	Weak transcription	Fetal Lung	lung
24	chr3:99869800-99874200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:99870400-99874000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:99870400-99874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:99870400-99874200	Weak transcription	Osteobl	bone
28	chr3:99870400-99898600	Weak transcription	Esophagus	oesophagus
29	chr3:99870600-99876400	Weak transcription	Left Ventricle	heart
30	chr3:99871000-99874000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:99871000-99874000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:99871000-99874000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:99871000-99874000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:99871200-99874000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:99871200-99874200	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:99871400-99874000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:99871400-99874600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:99871400-99899400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:99871800-99874000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:99872600-99874000	Weak transcription	Primary T cells from cord blood	blood
41	chr3:99872600-99876200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:99873200-99875000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:99873400-99874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:99873400-99874800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:99873600-99874200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:99873600-99874600	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr3:99873600-99874600	Enhancers	NHDF-Ad	bronchial
48	chr3:99873600-99874800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr3:99873600-99875200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr3:99873600-99875200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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