Variant report

Variant	rs187983341
Chromosome Location	chr1:9463470-9463471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9351861..9353643-chr1:9462950..9465545,2	MCF-7	breast:
2	chr1:9352813..9355064-chr1:9461860..9463608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171621	Chromatin interaction

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	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9457600-9468000	Enhancers	Fetal Thymus	thymus
2	chr1:9458600-9464200	Weak transcription	Esophagus	oesophagus
3	chr1:9459800-9464600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:9460800-9465400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:9460800-9471000	Weak transcription	Fetal Lung	lung
6	chr1:9460800-9473000	Weak transcription	Aorta	Aorta
7	chr1:9461000-9473000	Weak transcription	Psoas Muscle	Psoas
8	chr1:9461200-9464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:9461200-9464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:9461200-9465400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:9461200-9466000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:9461200-9466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:9461200-9466400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:9461200-9471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:9461400-9466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:9461400-9466200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:9461400-9471000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:9462000-9466000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:9462200-9466200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:9462200-9470400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:9462200-9471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:9462400-9464200	Weak transcription	Hela-S3	cervix
23	chr1:9462400-9464200	Enhancers	HepG2	liver
24	chr1:9462400-9464400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:9462400-9466200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:9462400-9466200	Weak transcription	HSMMtube	muscle
27	chr1:9462600-9464600	Weak transcription	Brain Anterior Caudate	brain
28	chr1:9462600-9466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:9462600-9469800	Weak transcription	Ovary	ovary
30	chr1:9462600-9470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:9462600-9470800	Weak transcription	Gastric	stomach
32	chr1:9462600-9471000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:9462600-9471200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:9462600-9472600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:9463200-9464000	Weak transcription	Dnd41	blood
36	chr1:9463200-9464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:9463200-9464200	Weak transcription	Right Ventricle	heart
38	chr1:9463200-9464600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:9463200-9466000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:9463200-9466200	Weak transcription	Fetal Heart	heart
41	chr1:9463200-9467200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:9463200-9470800	Weak transcription	Right Atrium	heart
43	chr1:9463400-9465400	Weak transcription	Thymus	Thymus

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