Variant report

Variant	rs186254969
Chromosome Location	chr1:9470758-9470759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9460800-9471000	Weak transcription	Fetal Lung	lung
2	chr1:9460800-9473000	Weak transcription	Aorta	Aorta
3	chr1:9461000-9473000	Weak transcription	Psoas Muscle	Psoas
4	chr1:9461200-9471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:9461400-9471000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:9462200-9471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:9462600-9470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:9462600-9470800	Weak transcription	Gastric	stomach
9	chr1:9462600-9471000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:9462600-9471200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:9462600-9472600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:9463200-9470800	Weak transcription	Right Atrium	heart
13	chr1:9464800-9471000	Weak transcription	Hela-S3	cervix
14	chr1:9465000-9471000	Weak transcription	NH-A	brain
15	chr1:9465600-9471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:9465600-9471000	Weak transcription	Esophagus	oesophagus
17	chr1:9465800-9471000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:9466400-9471000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:9466600-9470800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:9466600-9470800	Weak transcription	Spleen	Spleen
21	chr1:9466600-9470800	Weak transcription	GM12878-XiMat	blood
22	chr1:9466600-9471000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:9466600-9471000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:9466600-9471000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:9466600-9472600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:9466800-9470800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:9466800-9470800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:9466800-9471000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:9466800-9471000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:9466800-9471000	Weak transcription	Fetal Brain Male	brain
31	chr1:9466800-9471000	Weak transcription	Thymus	Thymus
32	chr1:9466800-9471000	Weak transcription	HSMMtube	muscle
33	chr1:9467000-9470800	Weak transcription	HepG2	liver
34	chr1:9467000-9471000	Weak transcription	Primary B cells from cord blood	blood
35	chr1:9467000-9471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:9467400-9471000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:9467600-9470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:9467600-9471000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:9468000-9470800	Weak transcription	Fetal Thymus	thymus
40	chr1:9469200-9471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:9469400-9470800	Weak transcription	Dnd41	blood
42	chr1:9470000-9471000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:9470000-9471200	Weak transcription	Ovary	ovary
44	chr1:9470400-9471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:9470400-9471400	Enhancers	Fetal Intestine Small	intestine
46	chr1:9470400-9471600	Enhancers	Fetal Intestine Large	intestine
47	chr1:9470400-9474200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:9470600-9470800	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:9470600-9471200	Weak transcription	HSMM	muscle

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