Variant report

Variant	rs73781500
Chromosome Location	chr5:112378935-112378936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
2	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:
3	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
4	chr5:112373432..112375747-chr5:112376830..112379641,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1443688	1.00[AMR][1000 genomes]
rs1443697	1.00[AMR][1000 genomes]
rs1443698	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs56029122	0.93[AFR][1000 genomes]
rs60422435	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6862997	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	1.00[AMR][1000 genomes]
rs73778907	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778912	1.00[AMR][1000 genomes]
rs73778915	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73783203	1.00[AMR][1000 genomes]
rs73789268	0.93[AFR][1000 genomes]
rs73789281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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	esv1817377	chr5:112373682-112389837	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
2	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:112363600-112379200	Weak transcription	Gastric	stomach
6	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
7	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
8	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
9	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
12	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
14	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
18	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
19	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:112368800-112379400	Strong transcription	Fetal Stomach	stomach
22	chr5:112368800-112382800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:112369000-112379000	Weak transcription	Psoas Muscle	Psoas
24	chr5:112369200-112380200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:112369400-112382800	Strong transcription	Liver	Liver
26	chr5:112370200-112379200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:112370600-112382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:112371000-112383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:112371400-112379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:112371400-112382600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:112371400-112391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112371600-112379000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112372600-112384000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:112373000-112381400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:112373000-112382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:112373000-112382800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:112373000-112383000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:112374600-112383200	Weak transcription	Fetal Kidney	kidney
46	chr5:112374800-112379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:112374800-112379200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112374800-112379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:112374800-112382400	Weak transcription	HSMMtube	muscle
50	chr5:112374800-112383200	Weak transcription	Osteobl	bone

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