Variant report

Variant	rs1358548
Chromosome Location	chr4:99504635-99504636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:
2	chr4:99496585..99499120-chr4:99503712..99505800,2	MCF-7	breast:
3	chr4:99499694..99502354-chr4:99504624..99508480,3	K562	blood:
4	chr4:99500568..99502223-chr4:99504228..99505932,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10004753	0.83[JPT][hapmap]
rs10005781	0.83[JPT][hapmap]
rs11943162	0.80[AMR][1000 genomes]
rs1893714	0.81[AMR][1000 genomes]
rs4699353	0.80[AMR][1000 genomes]
rs6844261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695093	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
2	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
3	chr4:99490800-99509000	Weak transcription	HSMM	muscle
4	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:99498600-99508000	Enhancers	Brain Anterior Caudate	brain
6	chr4:99498800-99507800	Enhancers	Brain Hippocampus Middle	brain
7	chr4:99500000-99508000	Weak transcription	Spleen	Spleen
8	chr4:99500400-99505400	Enhancers	Fetal Brain Male	brain
9	chr4:99500400-99508000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:99500800-99508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:99501800-99504800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:99501800-99507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:99502000-99507000	Weak transcription	Fetal Heart	heart
14	chr4:99502000-99507000	Weak transcription	Fetal Lung	lung
15	chr4:99502200-99504800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:99502200-99508200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:99502400-99507000	Weak transcription	NHDF-Ad	bronchial
18	chr4:99502600-99504800	Weak transcription	Brain Angular Gyrus	brain
19	chr4:99502600-99505000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:99502600-99507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:99502600-99507400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:99502600-99508000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:99502600-99508000	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:99502800-99507800	Weak transcription	NH-A	brain
25	chr4:99503000-99505200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:99503000-99507200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:99503200-99504800	Weak transcription	Brain Substantia Nigra	brain
28	chr4:99503200-99505200	Enhancers	Ovary	ovary
29	chr4:99503400-99504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:99503400-99506800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:99503400-99508000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:99503600-99504800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:99503600-99504800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:99503600-99508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:99503600-99508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:99503600-99508000	Weak transcription	Gastric	stomach
37	chr4:99503800-99504800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:99504000-99507400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:99504200-99505000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:99504200-99505000	Enhancers	NHEK	skin
41	chr4:99504200-99505200	Enhancers	HMEC	breast
42	chr4:99504200-99507800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:99504200-99509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:99504400-99505200	Enhancers	Brain Germinal Matrix	brain
45	chr4:99504400-99506400	Enhancers	Stomach Mucosa	stomach
46	chr4:99504600-99504800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:99504600-99505200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:99504600-99505400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:99504600-99507800	Enhancers	Fetal Brain Female	brain

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