Variant report

Variant	rs67054144
Chromosome Location	chr5:74991443-74991444
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	chr5:74972829..74974939-chr5:74988828..74991642,2	K562	blood:
2	chr5:74991379..74992986-chr5:75011800..75013427,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10462356	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746063	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748378	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166183	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563686	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563863	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649055	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817869	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193344	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194137	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047059	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2307113	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253388	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs253389	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253390	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34905687	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40059	0.84[EUR][1000 genomes]
rs41534344	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703678	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4703679	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703680	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704231	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704234	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59778668	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60134294	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60423072	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61173369	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66493518	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67803720	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868069	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633978	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633979	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7381033	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
2	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
7	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
9	chr5:74965600-75010400	Weak transcription	Gastric	stomach
10	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
11	chr5:74965800-74991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:74969000-74991600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
17	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
20	chr5:74977200-74997600	Weak transcription	Fetal Kidney	kidney
21	chr5:74977200-74997800	Weak transcription	Brain Angular Gyrus	brain
22	chr5:74977400-74997600	Weak transcription	NHEK	skin
23	chr5:74977400-74997800	Weak transcription	NHDF-Ad	bronchial
24	chr5:74978200-74997600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:74978800-74992000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:74978800-74992200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:74978800-74997600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:74979000-74997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:74979800-74998400	Weak transcription	Ovary	ovary
31	chr5:74980000-74991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:74981200-74991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:74981400-74991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:74981400-74997600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:74981400-74997800	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:74981400-74997800	Weak transcription	Spleen	Spleen
38	chr5:74981400-74999200	Weak transcription	Fetal Stomach	stomach
39	chr5:74981400-74999600	Weak transcription	Fetal Intestine Small	intestine
40	chr5:74981400-75002600	Weak transcription	Pancreas	Pancrea
41	chr5:74983200-74992400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:74985000-74997600	Weak transcription	HepG2	liver
44	chr5:74985000-74997800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:74985000-74997800	Weak transcription	Brain Anterior Caudate	brain
46	chr5:74985000-74997800	Weak transcription	HMEC	breast
47	chr5:74985400-74998400	Weak transcription	HSMM	muscle
48	chr5:74985600-74998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:74986400-74997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:74986400-74998400	Weak transcription	Left Ventricle	heart

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