Variant report

Variant	rs540866975
Chromosome Location	chr13:49086386-49086387
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	chr13:49081743..49084542-chr13:49085954..49089235,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv983709	chr13:49086347-49097905	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
6	chr13:49068000-49105600	Weak transcription	Gastric	stomach
7	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
9	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
15	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
18	chr13:49079600-49091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:49079600-49092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:49080600-49087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:49080800-49087400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:49081000-49090200	Weak transcription	HSMM	muscle
26	chr13:49081400-49088600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
28	chr13:49081600-49088000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr13:49082000-49086800	Weak transcription	Thymus	Thymus
30	chr13:49082600-49087000	Strong transcription	Fetal Brain Female	brain
31	chr13:49083000-49087000	Strong transcription	Fetal Lung	lung
32	chr13:49083400-49094400	Weak transcription	Fetal Intestine Small	intestine
33	chr13:49083400-49095800	Weak transcription	Spleen	Spleen
34	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
35	chr13:49084800-49086400	Strong transcription	Brain Germinal Matrix	brain
36	chr13:49084800-49086400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr13:49085000-49086600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:49085000-49087200	Strong transcription	GM12878-XiMat	blood
39	chr13:49085000-49088400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:49085000-49091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:49085000-49096000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr13:49085000-49096600	Weak transcription	Small Intestine	intestine
43	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:49085200-49086800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:49085200-49096000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr13:49085200-49100400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
49	chr13:49085600-49086400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:49085600-49087000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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