Variant report

Variant	rs548892035
Chromosome Location	chr5:61794382-61794383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61781558..61784548-chr5:61790648..61794410,3	K562	blood:
2	chr5:61793500..61795640-chr5:61797559..61799676,2	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	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
10	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
11	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
12	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
13	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
8	chr5:61748000-61794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
10	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
11	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
12	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:61763400-61799400	Weak transcription	Fetal Heart	heart
14	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
16	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
17	chr5:61764200-61794800	Weak transcription	Left Ventricle	heart
18	chr5:61764200-61796400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:61764200-61798800	Weak transcription	Spleen	Spleen
20	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
22	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
24	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
26	chr5:61764400-61796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:61764400-61801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:61765200-61794600	Weak transcription	HepG2	liver
29	chr5:61765600-61794600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:61765600-61794800	Weak transcription	GM12878-XiMat	blood
31	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:61771400-61797600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:61771400-61804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:61771800-61794800	Weak transcription	A549	lung
37	chr5:61771800-61811400	Weak transcription	HMEC	breast
38	chr5:61772000-61801200	Weak transcription	NH-A	brain
39	chr5:61772200-61850800	Weak transcription	HSMMtube	muscle
40	chr5:61772600-61842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:61773600-61813400	Weak transcription	NHDF-Ad	bronchial
42	chr5:61773800-61803000	Weak transcription	NHLF	lung
43	chr5:61774000-61794800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:61774200-61827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:61775000-61811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:61775200-61829200	Weak transcription	Brain Germinal Matrix	brain
47	chr5:61778600-61798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:61780800-61796200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr5:61781600-61867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:61782200-61794400	Weak transcription	Fetal Intestine Small	intestine

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