Variant report

Variant	rs386630974
Chromosome Location	chr1:47883019-47883020
allele	CCTCTG/TCTCTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47882103..47884059-chr1:47889283..47891446,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3408231	chr1:47880890-47883738	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3377704	chr1:47881215-47884213	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv546169	chr1:47881978-47883019	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1850757	chr1:47881978-47883769	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv546170	chr1:47881978-47889417	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1795989	chr1:47881984-47883019	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1800351	chr1:47881984-47883019	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1809828	chr1:47881984-47883019	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1834137	chr1:47881984-47883019	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1835115	chr1:47881984-47883019	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1835729	chr1:47881984-47883019	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1798121	chr1:47881984-47883024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1797070	chr1:47881984-47889417	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv534956	chr1:47882277-47905486	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv534957	chr1:47882277-47907965	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv546172	chr1:47882482-47883019	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv546173	chr1:47882482-47883024	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1843485	chr1:47882482-47889417	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv546178	chr1:47882528-47883019	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv546179	chr1:47882528-47883024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv546182	chr1:47882638-47883019	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv546183	chr1:47882638-47883024	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv546184	chr1:47882638-47889417	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv546185	chr1:47882641-47883019	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv546186	chr1:47882641-47883024	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv546188	chr1:47882761-47883019	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv546189	chr1:47882761-47883024	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47881000-47884800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:47881400-47883400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:47881800-47883200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:47881800-47883200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:47881800-47883200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:47882400-47883200	Bivalent Enhancer	Esophagus	oesophagus
7	chr1:47882600-47883200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:47882600-47883400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr1:47882800-47883200	Bivalent Enhancer	Colonic Mucosa	Colon
10	chr1:47882800-47898400	Weak transcription	Aorta	Aorta
11	chr1:47883000-47883200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:47883000-47883200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:47883000-47883200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr1:47883000-47883200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr1:47883000-47883200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:47883000-47883200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:47883000-47883200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:47883000-47883200	Bivalent Enhancer	Liver	Liver
19	chr1:47883000-47883200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr1:47883000-47883400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr1:47883000-47883600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr1:47883000-47883600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:47883000-47883600	Weak transcription	Right Atrium	heart

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