Variant report

Variant	rs73790817
Chromosome Location	chr5:118680276-118680277
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	chr5:118675434..118678874-chr5:118679948..118684456,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-8	chr5:118677271-118680524	NONHSAT103433

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs36205350	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
2	chr5:118671200-118681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:118671200-118695400	Weak transcription	A549	lung
4	chr5:118673200-118683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:118673200-118683800	Weak transcription	Hela-S3	cervix
6	chr5:118673400-118683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:118673800-118683400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:118674200-118681800	Weak transcription	Pancreas	Pancrea
9	chr5:118674200-118689000	Weak transcription	Esophagus	oesophagus
10	chr5:118674400-118681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:118674400-118689000	Weak transcription	Gastric	stomach
12	chr5:118676000-118682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:118676200-118681800	Weak transcription	Spleen	Spleen
14	chr5:118676600-118681800	Weak transcription	Right Atrium	heart
15	chr5:118676800-118681800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:118676800-118689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:118676800-118691400	Weak transcription	Lung	lung
18	chr5:118677000-118686000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:118677200-118686800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118677400-118680400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:118677400-118682600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:118677600-118680400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:118677600-118680400	Enhancers	NH-A	brain
24	chr5:118677800-118680400	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:118677800-118681800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:118677800-118681800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:118677800-118683400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:118678000-118681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:118678000-118681600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:118678000-118681800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:118678000-118690600	Weak transcription	NHEK	skin
32	chr5:118678200-118680400	Enhancers	HSMM	muscle
33	chr5:118678200-118681200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:118678200-118681600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:118678200-118682200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:118678200-118682600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:118678200-118682600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:118678200-118683400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:118678200-118684600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:118678400-118680400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr5:118678400-118680800	Enhancers	HSMMtube	muscle
42	chr5:118678400-118682000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:118678600-118680600	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr5:118678600-118681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:118678600-118681600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:118678600-118681800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:118678600-118681800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:118678800-118680400	Genic enhancers	Primary T cells from cord blood	blood
49	chr5:118678800-118683600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:118678800-118686400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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