Variant report

Variant	rs566374223
Chromosome Location	chr5:61787247-61787248
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	chr5:61766130..61769204-chr5:61785246..61788034,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61730000-61834200	Weak transcription	Gastric	stomach
5	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
9	chr5:61748000-61794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
11	chr5:61757600-61792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
13	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
14	chr5:61759800-61790000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:61763400-61799400	Weak transcription	Fetal Heart	heart
17	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
19	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
20	chr5:61764200-61794800	Weak transcription	Left Ventricle	heart
21	chr5:61764200-61796400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:61764200-61798800	Weak transcription	Spleen	Spleen
23	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
25	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
27	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
28	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
29	chr5:61764400-61792400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:61764400-61796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:61764400-61801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:61765200-61793200	Weak transcription	Fetal Lung	lung
33	chr5:61765200-61794600	Weak transcription	HepG2	liver
34	chr5:61765600-61794600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:61765600-61794800	Weak transcription	GM12878-XiMat	blood
36	chr5:61766000-61788000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:61771200-61792600	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:61771400-61797600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:61771400-61804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:61771600-61791400	Weak transcription	NHEK	skin
44	chr5:61771800-61794800	Weak transcription	A549	lung
45	chr5:61771800-61811400	Weak transcription	HMEC	breast
46	chr5:61772000-61801200	Weak transcription	NH-A	brain
47	chr5:61772200-61791400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:61772200-61850800	Weak transcription	HSMMtube	muscle
49	chr5:61772600-61842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:61773600-61813400	Weak transcription	NHDF-Ad	bronchial

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