Variant report

Variant	rs73778915
Chromosome Location	chr5:112417023-112417024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

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]
rs73244751	1.00[AMR][1000 genomes]
rs73778907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781500	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:4 , 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	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
3	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
4	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
4	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:112391600-112439000	Weak transcription	Gastric	stomach
6	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
11	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
14	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
16	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
18	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
19	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:112407400-112418000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:112409000-112419600	Weak transcription	Fetal Heart	heart
22	chr5:112411000-112431800	Weak transcription	Spleen	Spleen
23	chr5:112411200-112417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:112411200-112425800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:112411600-112417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:112411600-112417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:112411600-112417600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:112411600-112417600	Weak transcription	Right Ventricle	heart
30	chr5:112411600-112425800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:112411800-112417400	Weak transcription	Fetal Stomach	stomach
32	chr5:112411800-112417800	Weak transcription	Primary T cells from cord blood	blood
33	chr5:112411800-112418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:112411800-112420400	Weak transcription	Pancreas	Pancrea
35	chr5:112411800-112428000	Weak transcription	Fetal Intestine Large	intestine
36	chr5:112412000-112417400	Weak transcription	Esophagus	oesophagus
37	chr5:112412000-112417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:112412000-112435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:112412200-112417400	Weak transcription	Fetal Lung	lung
40	chr5:112412200-112432400	Weak transcription	Fetal Intestine Small	intestine
41	chr5:112414200-112425600	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:112416200-112421000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:112416400-112417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:112416600-112417200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:112416600-112417200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:112416600-112417200	Enhancers	NH-A	brain
47	chr5:112416600-112417600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:112416600-112417600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:112416600-112417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:112416600-112417600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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