Variant report

Variant	rs301858
Chromosome Location	chr5:37043154-37043155
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	chr5:37025436..37027538-chr5:37042888..37045586,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10041439	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10053695	1.00[AMR][1000 genomes]
rs10056607	1.00[AMR][1000 genomes]
rs10223124	1.00[AMR][1000 genomes]
rs11956853	1.00[AMR][1000 genomes]
rs1389861	1.00[AMR][1000 genomes]
rs150537	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159750	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159754	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294690	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294693	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294696	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294698	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297538	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs298970	1.00[AMR][1000 genomes]
rs300047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs391366	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs463041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786650	1.00[AMR][1000 genomes]
rs59774526	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750906	1.00[AMR][1000 genomes]
rs73750908	1.00[AMR][1000 genomes]
rs7702256	1.00[AMR][1000 genomes]
rs7724311	1.00[AMR][1000 genomes]
rs7735990	1.00[AMR][1000 genomes]
rs9292646	1.00[AMR][1000 genomes]
rs9764719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	esv1803948	chr5:37016522-37047066	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:37012400-37064600	Weak transcription	Gastric	stomach
12	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
15	chr5:37022400-37063600	Weak transcription	NHEK	skin
16	chr5:37023800-37050600	Weak transcription	Fetal Heart	heart
17	chr5:37026800-37043800	Weak transcription	Fetal Brain Female	brain
18	chr5:37027000-37048200	Weak transcription	HMEC	breast
19	chr5:37027000-37049000	Weak transcription	Pancreas	Pancrea
20	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:37027200-37045200	Weak transcription	Ovary	ovary
22	chr5:37027600-37043200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:37027600-37045600	Weak transcription	HSMMtube	muscle
24	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
25	chr5:37028600-37049000	Weak transcription	Thymus	Thymus
26	chr5:37029200-37045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:37029400-37043600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:37029400-37043800	Weak transcription	Fetal Kidney	kidney
29	chr5:37029400-37044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:37029400-37045600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:37029600-37043800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:37029800-37045600	Weak transcription	K562	blood
33	chr5:37029800-37049000	Weak transcription	A549	lung
34	chr5:37029800-37058200	Weak transcription	Right Ventricle	heart
35	chr5:37030000-37043800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:37030000-37044000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:37030400-37047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:37030800-37063800	Weak transcription	Fetal Brain Male	brain
39	chr5:37032200-37059400	Weak transcription	Aorta	Aorta
40	chr5:37032600-37043800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:37032800-37043800	Weak transcription	Left Ventricle	heart
42	chr5:37033000-37043800	Weak transcription	Primary T cells from cord blood	blood
43	chr5:37035400-37046200	Weak transcription	Brain Angular Gyrus	brain
44	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:37035600-37045000	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:37035600-37046200	Weak transcription	Brain Substantia Nigra	brain
47	chr5:37036000-37043800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:37036000-37054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:37036600-37065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:37037400-37054600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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