Variant report

Variant	rs1620525
Chromosome Location	chr8:42864916-42864917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10087388	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs10107370	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107916	0.81[EUR][1000 genomes]
rs10111452	0.82[AMR][1000 genomes]
rs10448065	1.00[CEU][hapmap]
rs10808963	1.00[CEU][hapmap]
rs1081884	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1081885	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1081886	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13261180	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13280254	0.88[ASN][1000 genomes]
rs1625050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1648119	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1648120	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1648121	0.90[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs16891647	1.00[MEX][hapmap]
rs2042674	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2376489	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28539345	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3867147	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4236927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes]
rs4512420	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs4523300	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4623474	0.81[JPT][hapmap]
rs4736844	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs4737080	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6474429	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs6986338	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7001861	1.00[ASW][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes]
rs7012985	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7016673	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs773068	0.81[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs773069	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs773070	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs773071	0.81[ASN][1000 genomes]
rs773072	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7812948	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7815800	1.00[CEU][hapmap]
rs7819737	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7835435	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs798827	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42830800-42865400	Weak transcription	NHLF	lung
5	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
7	chr8:42831800-42872200	Weak transcription	Gastric	stomach
8	chr8:42838200-42865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:42838200-42872200	Weak transcription	K562	blood
10	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
11	chr8:42840200-42866000	Weak transcription	Spleen	Spleen
12	chr8:42840200-42866600	Weak transcription	HepG2	liver
13	chr8:42844200-42865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
15	chr8:42844600-42873200	Weak transcription	HMEC	breast
16	chr8:42844800-42865000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:42846200-42865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:42847200-42865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:42847200-42867200	Weak transcription	Colonic Mucosa	Colon
21	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:42847400-42866200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
24	chr8:42848200-42865000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:42848200-42865200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:42848400-42865600	Weak transcription	GM12878-XiMat	blood
27	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:42848600-42865600	Weak transcription	Fetal Kidney	kidney
30	chr8:42848600-42870400	Weak transcription	Thymus	Thymus
31	chr8:42848800-42865600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:42848800-42865600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:42851000-42868400	Weak transcription	Fetal Brain Male	brain
34	chr8:42852400-42865800	Weak transcription	NHEK	skin
35	chr8:42854000-42865600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:42854800-42865600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:42855400-42865600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:42855600-42865600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:42856000-42865800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:42856200-42866400	Weak transcription	Stomach Mucosa	stomach
41	chr8:42856800-42877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:42858800-42865600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:42858800-42865800	Weak transcription	Fetal Brain Female	brain
44	chr8:42859000-42865400	Weak transcription	HUVEC	blood vessel
45	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
46	chr8:42859200-42865400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:42859200-42865400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:42859200-42865400	Weak transcription	A549	lung
49	chr8:42859200-42865600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:42859200-42865600	Weak transcription	Brain Angular Gyrus	brain

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