Variant report

Variant	rs535621629
Chromosome Location	chr13:48971850-48971851
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	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48909000-48972200	Weak transcription	NHEK	skin
2	chr13:48914800-48972000	Weak transcription	NHLF	lung
3	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
4	chr13:48920200-48974400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48921600-48972000	Weak transcription	Stomach Mucosa	stomach
6	chr13:48925200-48974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:48925400-48976400	Weak transcription	Ovary	ovary
8	chr13:48926800-48972000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:48933400-48974000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
11	chr13:48936000-48974600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:48936400-48973200	Weak transcription	Hela-S3	cervix
13	chr13:48941800-48973200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
15	chr13:48944000-48974400	Weak transcription	Brain Anterior Caudate	brain
16	chr13:48944200-48973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
18	chr13:48945000-48972000	Weak transcription	HSMMtube	muscle
19	chr13:48945400-48974400	Weak transcription	Small Intestine	intestine
20	chr13:48949400-48972800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:48953800-48972000	Weak transcription	Osteobl	bone
22	chr13:48954400-48972200	Weak transcription	HUVEC	blood vessel
23	chr13:48954800-48975000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:48955800-48972000	Weak transcription	HMEC	breast
25	chr13:48955800-48972000	Weak transcription	NHDF-Ad	bronchial
26	chr13:48956000-48974000	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:48956200-48976600	Weak transcription	Liver	Liver
28	chr13:48959800-48972200	Weak transcription	Adipose Nuclei	Adipose
29	chr13:48961000-48972000	Weak transcription	Fetal Lung	lung
30	chr13:48964000-48974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:48965200-48974400	Weak transcription	Fetal Heart	heart
32	chr13:48966400-48974200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:48966400-48986000	Weak transcription	Lung	lung
34	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
35	chr13:48967600-48974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:48967800-48972000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:48967800-48972400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:48968200-48972000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:48968200-48972800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:48968200-48976400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:48968400-48976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:48968800-48972400	Weak transcription	Fetal Kidney	kidney
43	chr13:48968800-48974200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr13:48968800-48974800	Weak transcription	Primary T cells from cord blood	blood
45	chr13:48968800-48976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:48968800-48977800	Weak transcription	Spleen	Spleen
47	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:48969000-48972000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:48969000-48974400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine

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