Variant report

Variant	rs200496392
Chromosome Location	chr1:212581700-212581701
allele	-/TTTAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212581574..212584496-chr1:212586803..212589409,2	MCF-7	breast:
2	chr1:212570221..212572169-chr1:212580241..212582437,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	esv1828436	chr1:212577765-212591863	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv3415613	chr1:212581229-212584627	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1999581	chr1:212581700-212581705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
2	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
3	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
4	chr1:212560600-212582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:212560600-212582000	Weak transcription	Gastric	stomach
6	chr1:212561000-212582400	Weak transcription	Aorta	Aorta
7	chr1:212569600-212582600	Weak transcription	Ovary	ovary
8	chr1:212570600-212582000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:212571000-212586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:212572600-212582000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:212572600-212585000	Strong transcription	Dnd41	blood
12	chr1:212572800-212585600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:212573400-212582200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:212574400-212582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:212575200-212583600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:212575200-212584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:212575200-212585800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:212575400-212582600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:212575400-212584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:212575400-212585000	Strong transcription	Thymus	Thymus
21	chr1:212575600-212582200	Weak transcription	Right Ventricle	heart
22	chr1:212575600-212585200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:212576000-212584200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:212576000-212585200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr1:212576200-212582600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:212576200-212582600	Weak transcription	NHLF	lung
27	chr1:212576200-212585200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:212576200-212585200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:212576400-212582000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:212576600-212582400	Weak transcription	Liver	Liver
31	chr1:212576600-212584000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:212576600-212585000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:212576800-212582000	Weak transcription	HUVEC	blood vessel
34	chr1:212577000-212582200	Weak transcription	Hela-S3	cervix
35	chr1:212577000-212584200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:212577000-212584600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:212577200-212586200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:212577200-212586200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:212577400-212582000	Weak transcription	Pancreas	Pancrea
40	chr1:212577600-212585000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:212577600-212585000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:212577600-212585000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:212577600-212585000	Strong transcription	NHEK	skin
44	chr1:212577800-212584000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:212577800-212584800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:212577800-212585000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:212577800-212585000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:212577800-212585000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:212577800-212586600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:212578000-212585000	Strong transcription	GM12878-XiMat	blood

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