Variant report

Variant	rs79307222
Chromosome Location	chr1:9471297-9471298
allele	C/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:90 , 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	chr1:9470400-9471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:9470400-9471400	Enhancers	Fetal Intestine Small	intestine
7	chr1:9470400-9471600	Enhancers	Fetal Intestine Large	intestine
8	chr1:9470400-9474200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:9470800-9471400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:9470800-9471400	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:9470800-9471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:9470800-9471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:9470800-9471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:9470800-9471400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:9470800-9471400	Enhancers	Fetal Heart	heart
16	chr1:9470800-9471400	Enhancers	Placenta	Placenta
17	chr1:9470800-9471400	Enhancers	Lung	lung
18	chr1:9470800-9471400	Genic enhancers	Right Atrium	heart
19	chr1:9470800-9471400	Enhancers	Osteobl	bone
20	chr1:9470800-9473400	Enhancers	Fetal Thymus	thymus
21	chr1:9471000-9471400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:9471000-9471400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:9471000-9471400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr1:9471000-9471400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:9471000-9471400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:9471000-9471400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:9471000-9471400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
28	chr1:9471000-9471400	Enhancers	Primary B cells from cord blood	blood
29	chr1:9471000-9471400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:9471000-9471400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:9471000-9471400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:9471000-9471400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:9471000-9471400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:9471000-9471400	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr1:9471000-9471400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
36	chr1:9471000-9471400	ZNF genes & repeats	Esophagus	oesophagus
37	chr1:9471000-9471400	ZNF genes & repeats	Fetal Brain Male	brain
38	chr1:9471000-9471400	ZNF genes & repeats	Fetal Kidney	kidney
39	chr1:9471000-9471400	ZNF genes & repeats	Fetal Lung	lung
40	chr1:9471000-9471400	Enhancers	Left Ventricle	heart
41	chr1:9471000-9471400	Flanking Active TSS	Pancreas	Pancrea
42	chr1:9471000-9471400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr1:9471000-9471400	Enhancers	Right Ventricle	heart
44	chr1:9471000-9471400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:9471000-9471400	Flanking Active TSS	Stomach Mucosa	stomach
46	chr1:9471000-9471400	ZNF genes & repeats	Thymus	Thymus
47	chr1:9471000-9471400	Flanking Active TSS	Spleen	Spleen
48	chr1:9471000-9471400	Flanking Active TSS	A549	lung
49	chr1:9471000-9471400	Flanking Active TSS	Dnd41	blood
50	chr1:9471000-9471400	Flanking Active TSS	GM12878-XiMat	blood

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