Variant report

Variant	rs73778907
Chromosome Location	chr5:112397822-112397823
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	1.00[AMR][1000 genomes]
rs1443697	1.00[AMR][1000 genomes]
rs1443698	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs60422435	1.00[AMR][1000 genomes]
rs6862997	1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	1.00[AMR][1000 genomes]
rs73239122	1.00[AMR][1000 genomes]
rs73239127	1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778917	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789281	1.00[AMR][1000 genomes]
rs935164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1032798	chr5:112392380-112408177	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
9	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
11	chr5:112383200-112409400	Strong transcription	Liver	Liver
12	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
17	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:112390600-112402400	Weak transcription	Spleen	Spleen
20	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:112391200-112398400	Weak transcription	Right Ventricle	heart
22	chr5:112391600-112439000	Weak transcription	Gastric	stomach
23	chr5:112392800-112399000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:112393600-112400200	Weak transcription	Placenta	Placenta
25	chr5:112394000-112398000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:112394000-112399200	Weak transcription	Ovary	ovary
27	chr5:112394000-112399400	Enhancers	Fetal Thymus	thymus
28	chr5:112394600-112399000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:112394800-112400800	Strong transcription	Esophagus	oesophagus
30	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:112395400-112398200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:112395400-112399000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:112395600-112398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:112395600-112398400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:112395600-112398400	Weak transcription	Thymus	Thymus
36	chr5:112395600-112399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:112395600-112399400	Weak transcription	Right Atrium	heart
38	chr5:112395600-112399600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:112395600-112399600	Enhancers	NHDF-Ad	bronchial
40	chr5:112395600-112400000	Enhancers	Brain Germinal Matrix	brain
41	chr5:112395600-112401400	Weak transcription	Lung	lung
42	chr5:112395600-112402400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:112395600-112403400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:112395600-112403600	Weak transcription	Fetal Brain Male	brain
45	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
46	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112395800-112398000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:112395800-112398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:112395800-112398400	Weak transcription	Fetal Lung	lung
50	chr5:112395800-112398400	Weak transcription	Stomach Smooth Muscle	stomach

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