Variant report

Variant	rs70979743
Chromosome Location	chr1:9471438-9471439
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9456649..9458216-chr1:9471285..9472844,2	K562	blood:
2	chr1:9471245..9471745-chr4:7390618..7391126,2	K562	blood:

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

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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1014975	chr1:9462254-9517118	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv534851	chr1:9462254-9517118	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1006705	chr1:9470745-9512042	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3367825	chr1:9470953-9473170	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9460800-9473000	Weak transcription	Aorta	Aorta
2	chr1:9461000-9473000	Weak transcription	Psoas Muscle	Psoas
3	chr1:9462600-9472600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:9466600-9472600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:9470400-9471600	Enhancers	Fetal Intestine Large	intestine
6	chr1:9470400-9474200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:9470800-9473400	Enhancers	Fetal Thymus	thymus
8	chr1:9471000-9471600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:9471000-9471600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:9471000-9471600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:9471000-9471600	Enhancers	Primary T cells from cord blood	blood
12	chr1:9471000-9471600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr1:9471000-9471600	ZNF genes & repeats	Hela-S3	cervix
14	chr1:9471000-9471800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:9471000-9471800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:9471000-9473000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:9471000-9473400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:9471000-9473600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:9471000-9473600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:9471000-9473600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:9471000-9474600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:9471000-9479600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:9471400-9471600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:9471400-9471600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:9471400-9471600	Enhancers	Gastric	stomach
26	chr1:9471400-9471600	Enhancers	Pancreas	Pancrea
27	chr1:9471400-9471600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:9471400-9471600	Weak transcription	HMEC	breast
29	chr1:9471400-9471600	Bivalent Enhancer	NHLF	lung
30	chr1:9471400-9472000	Weak transcription	Ovary	ovary
31	chr1:9471400-9472000	Weak transcription	Thymus	Thymus
32	chr1:9471400-9472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:9471400-9472400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:9471400-9472400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:9471400-9472400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:9471400-9472400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:9471400-9472600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:9471400-9472600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:9471400-9472600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:9471400-9472600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:9471400-9472600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:9471400-9472600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:9471400-9472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:9471400-9472600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:9471400-9472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:9471400-9472600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:9471400-9472600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:9471400-9472600	Weak transcription	Colonic Mucosa	Colon
49	chr1:9471400-9472600	Weak transcription	Fetal Heart	heart
50	chr1:9471400-9472600	Weak transcription	Fetal Intestine Small	intestine

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