Variant report

Variant	rs527714024
Chromosome Location	chr3:99587096-99587097
allele	-/AATCAAGGTAAAGGGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99583225..99585048-chr3:99585235..99587325,2	K562	blood:
2	chr3:99586883..99589677-chr3:99616438..99618388,2	K562	blood:
3	chr3:99584236..99588094-chr3:99589040..99591682,4	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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	nsv980067	chr3:99585666-99590644	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
2	chr3:99563200-99593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:99565600-99589400	Weak transcription	K562	blood
4	chr3:99569000-99589600	Weak transcription	Colonic Mucosa	Colon
5	chr3:99573200-99594000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:99573400-99589200	Genic enhancers	HepG2	liver
7	chr3:99574400-99590000	Weak transcription	Liver	Liver
8	chr3:99575000-99593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:99576000-99587600	Genic enhancers	NHDF-Ad	bronchial
10	chr3:99577400-99587200	Weak transcription	Brain Anterior Caudate	brain
11	chr3:99579200-99591000	Genic enhancers	NH-A	brain
12	chr3:99579400-99591000	Weak transcription	Fetal Lung	lung
13	chr3:99579600-99592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:99580600-99587600	Weak transcription	Brain Angular Gyrus	brain
15	chr3:99580800-99590800	Weak transcription	Lung	lung
16	chr3:99581200-99589200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:99581400-99594000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:99581800-99589600	Weak transcription	Gastric	stomach
19	chr3:99582000-99587200	Weak transcription	Spleen	Spleen
20	chr3:99582000-99589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:99582000-99589400	Weak transcription	Right Ventricle	heart
22	chr3:99582400-99589400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:99583000-99587200	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:99583600-99593600	Weak transcription	Primary B cells from cord blood	blood
25	chr3:99584000-99587600	Genic enhancers	HSMM	muscle
26	chr3:99584400-99588600	Weak transcription	Fetal Intestine Large	intestine
27	chr3:99584600-99587600	Enhancers	Primary T cells from cord blood	blood
28	chr3:99584800-99587400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr3:99584800-99587600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:99585000-99587200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr3:99585000-99590800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:99585200-99587200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr3:99585200-99587600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:99585200-99587600	Genic enhancers	Osteobl	bone
35	chr3:99585200-99590400	Enhancers	Fetal Intestine Small	intestine
36	chr3:99585400-99587400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:99585400-99588000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:99585400-99588200	Enhancers	Adipose Nuclei	Adipose
39	chr3:99585400-99591000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:99585600-99587200	Weak transcription	Fetal Thymus	thymus
41	chr3:99585600-99587600	Enhancers	Colon Smooth Muscle	Colon
42	chr3:99585600-99589000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:99585600-99590400	Weak transcription	A549	lung
44	chr3:99585600-99590800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:99585600-99592400	Enhancers	Fetal Kidney	kidney
46	chr3:99585800-99587200	Weak transcription	HMEC	breast
47	chr3:99585800-99589200	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:99586000-99590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:99586000-99591200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:99586200-99587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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