Variant report

Variant	rs56003023
Chromosome Location	chr8:103300646-103300647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103292030..103294873-chr8:103298040..103300852,2	MCF-7	breast:
2	chr8:103299064..103302464-chr8:103303139..103305515,3	MCF-7	breast:
3	chr8:103278418..103280718-chr8:103300341..103302619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10505020	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955287	1.00[AFR][1000 genomes]
rs12707772	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13248603	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13249865	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250998	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259151	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261528	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262662	0.95[EUR][1000 genomes]
rs13263132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270908	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278798	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2061299	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927991	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999669	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270914	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34278087	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34279135	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34351006	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34356268	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34730203	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34976508	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35166521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35316247	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35558370	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818724	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35873559	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35969173	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980679	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59572423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71518852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518861	0.87[EUR][1000 genomes]
rs71518862	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7845877	0.88[EUR][1000 genomes]
rs9650000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
13	chr8:103286600-103302000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:103287800-103302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:103287800-103312800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103295800-103301800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:103296000-103312600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr8:103296200-103301000	Strong transcription	Fetal Brain Female	brain
20	chr8:103296600-103302000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:103296600-103303800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:103296600-103327000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:103296800-103300800	Strong transcription	Gastric	stomach
24	chr8:103296800-103301800	Strong transcription	Fetal Stomach	stomach
25	chr8:103296800-103301800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:103296800-103304200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:103296800-103311400	Strong transcription	HUVEC	blood vessel
28	chr8:103297000-103301800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:103297000-103301800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr8:103297000-103302200	Strong transcription	Left Ventricle	heart
31	chr8:103297000-103304000	Strong transcription	Brain Germinal Matrix	brain
32	chr8:103297000-103312600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:103297000-103315400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr8:103297200-103300800	Strong transcription	Pancreas	Pancrea
35	chr8:103297400-103302400	Strong transcription	A549	lung
36	chr8:103298200-103301000	Strong transcription	Psoas Muscle	Psoas
37	chr8:103298800-103303000	Weak transcription	Small Intestine	intestine
38	chr8:103298800-103303000	Strong transcription	Hela-S3	cervix
39	chr8:103298800-103305800	Weak transcription	Esophagus	oesophagus
40	chr8:103298800-103307200	Weak transcription	Spleen	Spleen
41	chr8:103298800-103307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:103299200-103300800	Genic enhancers	Placenta	Placenta
43	chr8:103299200-103305000	Weak transcription	Right Ventricle	heart
44	chr8:103299200-103307200	Weak transcription	Aorta	Aorta
45	chr8:103299400-103301600	Weak transcription	Lung	lung
46	chr8:103299800-103301000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:103299800-103303800	Weak transcription	HSMMtube	muscle
48	chr8:103299800-103305800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:103299800-103327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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