Variant report

Variant	rs870995
Chromosome Location	chr3:178913006-178913007
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	chr3:178910913..178913212-chr3:178917675..178920478,2	K562	blood:

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

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

rs_ID	r²[population]
rs2459693	0.85[AMR][1000 genomes]
rs2677760	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2699888	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2699895	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2699896	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3729679	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650873	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178897800-178919400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:178899200-178951800	Weak transcription	K562	blood
3	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:178900800-178913400	Weak transcription	Osteobl	bone
5	chr3:178901000-178913200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:178904000-178918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:178904800-178916400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:178906400-178962400	Weak transcription	HepG2	liver
9	chr3:178908000-178913400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:178908000-178913400	Weak transcription	NHDF-Ad	bronchial
11	chr3:178908000-178917600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:178908000-178918400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:178908000-178919800	Weak transcription	Brain Angular Gyrus	brain
14	chr3:178908000-178923600	Weak transcription	Fetal Brain Female	brain
15	chr3:178908200-178913200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:178908600-178913200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:178908800-178913200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:178908800-178920000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:178908800-178922800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:178909000-178919800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:178909000-178931400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:178909000-178947000	Weak transcription	Ovary	ovary
23	chr3:178909200-178913600	Weak transcription	Fetal Kidney	kidney
24	chr3:178909200-178915200	Weak transcription	Stomach Mucosa	stomach
25	chr3:178909400-178918800	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:178909400-178925400	Weak transcription	Aorta	Aorta
27	chr3:178910000-178919400	Weak transcription	Fetal Stomach	stomach
28	chr3:178910200-178915400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:178911000-178913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:178911000-178919600	Weak transcription	Placenta	Placenta
31	chr3:178911200-178913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:178911200-178953400	Weak transcription	Gastric	stomach
33	chr3:178911400-178919400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:178911600-178913400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:178912000-178913800	Enhancers	Small Intestine	intestine
36	chr3:178912000-178914000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:178912000-178914800	Enhancers	Fetal Thymus	thymus
38	chr3:178912000-178914800	Enhancers	Thymus	Thymus
39	chr3:178912000-178914800	Enhancers	Dnd41	blood
40	chr3:178912000-178915000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr3:178912200-178914600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:178912200-178914800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:178912200-178914800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr3:178912200-178915400	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:178912200-178915400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:178912200-178915400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:178912200-178915400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr3:178912200-178915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:178912400-178913200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:178912400-178913200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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