Variant report

Variant	rs544928076
Chromosome Location	chr5:68556792-68556793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv965550	chr5:68556472-68572197	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
5	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
7	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
8	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
10	chr5:68535200-68558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:68535200-68559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:68538400-68563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:68539000-68559200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
15	chr5:68546200-68560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:68546200-68562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:68546400-68569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:68546600-68566600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:68548400-68557200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:68548400-68560600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:68548600-68566600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:68548800-68562000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:68549400-68565000	Weak transcription	Small Intestine	intestine
25	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:68549800-68567800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:68550400-68560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:68550600-68559800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:68550600-68561000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:68550600-68562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:68550600-68577000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:68550800-68560400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:68550800-68560400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:68550800-68566600	Strong transcription	HSMM	muscle
37	chr5:68550800-68568400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:68550800-68569600	Strong transcription	Primary B cells from cord blood	blood
39	chr5:68551000-68556800	Weak transcription	K562	blood
40	chr5:68551200-68556800	Weak transcription	Right Ventricle	heart
41	chr5:68551200-68562000	Strong transcription	Placenta	Placenta
42	chr5:68551200-68567000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:68551400-68567400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:68551600-68557600	Strong transcription	Thymus	Thymus
45	chr5:68551600-68558000	Strong transcription	HepG2	liver
46	chr5:68551600-68560200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:68551600-68560400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:68551600-68560800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:68551600-68560800	Strong transcription	Fetal Intestine Large	intestine
50	chr5:68551600-68562000	Strong transcription	Duodenum Mucosa	Duodenum

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