Variant report

Variant	rs61173369
Chromosome Location	chr5:74997995-74997996
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	chr5:74997231..74999217-chr5:75000460..75002166,2	K562	blood:
2	chr5:74996831..74999207-chr5:75004311..75007242,2	K562	blood:

Variant related genes	Relation type
ENSG00000207333	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	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462521	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746063	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748378	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166183	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17563686	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17563863	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17649055	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1817869	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs193344	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs194137	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2047059	0.88[EUR][1000 genomes]
rs2307113	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253388	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs253389	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253390	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34905687	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40059	0.80[EUR][1000 genomes]
rs41534344	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4703678	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703679	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4703680	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704231	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704234	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59778668	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60134294	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60423072	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66493518	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67054144	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67803720	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6868069	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72633978	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633979	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7381033	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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:121 , 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	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
6	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
8	chr5:74965600-75010400	Weak transcription	Gastric	stomach
9	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
10	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
13	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
14	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
15	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:74979800-74998400	Weak transcription	Ovary	ovary
17	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:74981400-74999200	Weak transcription	Fetal Stomach	stomach
19	chr5:74981400-74999600	Weak transcription	Fetal Intestine Small	intestine
20	chr5:74981400-75002600	Weak transcription	Pancreas	Pancrea
21	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:74985400-74998400	Weak transcription	HSMM	muscle
23	chr5:74985600-74998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:74986400-74998400	Weak transcription	Left Ventricle	heart
25	chr5:74986800-74998200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:74986800-74998400	Weak transcription	NH-A	brain
27	chr5:74986800-75000000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:74986800-75005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:74987800-75002600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:74990000-74998200	Weak transcription	Hela-S3	cervix
31	chr5:74990000-75012000	Weak transcription	HSMMtube	muscle
32	chr5:74990000-75012400	Weak transcription	Esophagus	oesophagus
33	chr5:74990200-74998000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:74990200-74998200	Weak transcription	Osteobl	bone
35	chr5:74990200-74998600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:74991200-74998200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:74992000-75012400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:74992400-74998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:74992400-75005800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:74992600-75012600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:74996400-75006400	Weak transcription	Stomach Mucosa	stomach
42	chr5:74996800-75012400	Weak transcription	Fetal Brain Male	brain
43	chr5:74997600-74998000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:74997600-74998200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:74997600-74998400	Strong transcription	HepG2	liver
46	chr5:74997600-74998600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr5:74997600-74998600	Strong transcription	NHLF	lung
48	chr5:74997600-74998800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:74997600-74998800	Strong transcription	Fetal Intestine Large	intestine
50	chr5:74997600-74998800	Strong transcription	Fetal Kidney	kidney

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