Variant report

Variant	rs556776949
Chromosome Location	chr1:196620235-196620236
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	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:

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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
2	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
3	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:196619600-196620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196619600-196620800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:196619800-196620600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:196619800-196620600	Weak transcription	Psoas Muscle	Psoas
8	chr1:196619800-196620600	Enhancers	HSMMtube	muscle
9	chr1:196619800-196620800	Weak transcription	Fetal Thymus	thymus
10	chr1:196619800-196621200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:196619800-196623800	Active TSS	K562	blood
12	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:196620000-196620400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:196620000-196620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:196620000-196620400	Enhancers	HSMM	muscle
16	chr1:196620000-196620600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:196620000-196621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:196620200-196620400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:196620200-196620400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:196620200-196620400	Flanking Active TSS	Liver	Liver
22	chr1:196620200-196620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:196620200-196620600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:196620200-196620600	Enhancers	NH-A	brain
25	chr1:196620200-196620600	Enhancers	Osteobl	bone
26	chr1:196620200-196621000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:196620200-196621200	Enhancers	Primary T helper cells fromperipheralblood	blood

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