Variant report

Variant	rs544099839
Chromosome Location	chr5:1653870-1653871
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	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv880740	chr5:1468287-1671200	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv881554	chr5:1468287-1696932	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
4	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
5	nsv881096	chr5:1503610-1671200	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv880788	chr5:1629407-1671200	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv881328	chr5:1637461-1671200	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv596886	chr5:1644651-1655800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv433369	chr5:1644735-1656054	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv518935	chr5:1653418-1655800	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv19050	chr5:1653724-1654694	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
2	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
4	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
5	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea
6	chr5:1653000-1654000	Enhancers	Fetal Heart	heart
7	chr5:1653000-1654000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:1653000-1654600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:1653000-1654600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr5:1653000-1654600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:1653000-1654800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:1653000-1654800	Enhancers	Spleen	Spleen
13	chr5:1653200-1654000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
14	chr5:1653200-1654200	Bivalent Enhancer	Esophagus	oesophagus
15	chr5:1653200-1654400	Flanking Active TSS	Dnd41	blood
16	chr5:1653400-1654000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:1653400-1654000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:1653400-1654200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr5:1653400-1654400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:1653400-1654600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr5:1653400-1654600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr5:1653600-1654000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr5:1653600-1654000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr5:1653600-1654000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
25	chr5:1653600-1654000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr5:1653600-1654000	Enhancers	GM12878-XiMat	blood
27	chr5:1653600-1654200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:1653600-1654200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:1653600-1654200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:1653600-1654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:1653600-1654200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:1653600-1654200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:1653600-1654200	Enhancers	Right Atrium	heart
34	chr5:1653600-1654200	Bivalent/Poised TSS	A549	lung
35	chr5:1653600-1654400	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr5:1653600-1654400	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr5:1653600-1654800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:1653800-1654000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:1653800-1654000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:1653800-1654000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr5:1653800-1654000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:1653800-1654000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr5:1653800-1654000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr5:1653800-1654000	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr5:1653800-1654200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:1653800-1654200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr5:1653800-1654200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:1653800-1654200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:1653800-1654200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:1653800-1654200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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