Variant report

Variant	rs34058697
Chromosome Location	chr8:52794952-52794953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52794319..52797948-chr8:52808305..52812349,5	K562	blood:
2	chr8:52787298..52790273-chr8:52793803..52795714,2	K562	blood:
3	chr8:52781708..52785337-chr8:52790872..52796475,5	K562	blood:

Variant related genes	Relation type
ENSG00000228801	Chromatin interaction
ENSG00000168300	Chromatin interaction
ENSG00000253475	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10101163	0.82[EUR][1000 genomes]
rs10504130	0.95[ASN][1000 genomes]
rs10958300	0.98[ASN][1000 genomes]
rs10958301	0.98[ASN][1000 genomes]
rs10958304	0.81[EUR][1000 genomes]
rs10958305	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11775587	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11775611	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777016	0.98[ASN][1000 genomes]
rs11777714	0.98[ASN][1000 genomes]
rs11778849	0.95[ASN][1000 genomes]
rs11780040	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781330	0.95[ASN][1000 genomes]
rs11784869	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785467	0.83[AMR][1000 genomes]
rs11785805	0.94[ASN][1000 genomes]
rs11787229	0.86[ASN][1000 genomes]
rs11787499	0.81[EUR][1000 genomes]
rs12675786	0.95[ASN][1000 genomes]
rs12675907	0.83[ASN][1000 genomes]
rs12676345	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676780	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12676835	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12677407	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12678639	0.94[ASN][1000 genomes]
rs12679287	0.94[ASN][1000 genomes]
rs12679983	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680128	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12681203	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12681734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13265006	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274159	0.85[AMR][1000 genomes]
rs13275967	0.85[AMR][1000 genomes]
rs13276400	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16916820	0.95[ASN][1000 genomes]
rs16916856	0.95[ASN][1000 genomes]
rs16916865	0.95[ASN][1000 genomes]
rs16916906	0.98[ASN][1000 genomes]
rs16916952	0.81[EUR][1000 genomes]
rs16916961	0.94[ASN][1000 genomes]
rs17212214	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17212256	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17284746	0.94[ASN][1000 genomes]
rs2037138	0.95[ASN][1000 genomes]
rs2037139	0.98[ASN][1000 genomes]
rs2069119	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2176120	0.98[ASN][1000 genomes]
rs34004633	0.85[AMR][1000 genomes]
rs34073804	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34213209	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34319820	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34364864	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34372756	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34677273	0.94[ASN][1000 genomes]
rs34780436	0.85[AMR][1000 genomes]
rs34973406	0.95[ASN][1000 genomes]
rs35032384	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35509250	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35603537	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41453644	0.94[ASN][1000 genomes]
rs4242479	0.82[EUR][1000 genomes]
rs4292674	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4321994	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4436115	0.85[AMR][1000 genomes]
rs4534123	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4573262	0.85[AMR][1000 genomes]
rs4598243	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4626585	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57212480	0.95[ASN][1000 genomes]
rs58561048	0.95[ASN][1000 genomes]
rs58583070	0.85[ASN][1000 genomes]
rs59602923	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60153173	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60304457	0.94[ASN][1000 genomes]
rs60796336	0.94[ASN][1000 genomes]
rs61326367	0.85[ASN][1000 genomes]
rs6768	0.82[AMR][1000 genomes]
rs6994203	0.90[ASN][1000 genomes]
rs71513549	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71513552	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71513561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71513564	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs763550	0.95[ASN][1000 genomes]
rs9650179	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9650180	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9650305	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9792352	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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' 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
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
2	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
3	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
5	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
6	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:52773600-52797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
9	chr8:52779400-52796200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
11	chr8:52780400-52796400	Weak transcription	Liver	Liver
12	chr8:52780800-52803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
14	chr8:52782800-52796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:52783000-52796800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:52783000-52797200	Weak transcription	HSMM	muscle
17	chr8:52783000-52803200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:52783000-52803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:52783000-52803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:52783200-52795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:52783200-52796400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:52783200-52797200	Weak transcription	Fetal Brain Female	brain
23	chr8:52783400-52796600	Weak transcription	NHEK	skin
24	chr8:52783400-52796800	Weak transcription	Fetal Intestine Large	intestine
25	chr8:52783400-52797000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:52784000-52795600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:52784000-52795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:52784000-52797000	Weak transcription	HMEC	breast
29	chr8:52784000-52797000	Weak transcription	NH-A	brain
30	chr8:52784000-52806600	Weak transcription	Hela-S3	cervix
31	chr8:52784200-52796200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:52784200-52796800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:52784200-52796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:52784200-52797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:52784200-52797000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:52784200-52806600	Weak transcription	A549	lung
37	chr8:52785000-52796400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:52785200-52796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:52785200-52797000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:52786400-52797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:52786800-52795600	Weak transcription	HUVEC	blood vessel
42	chr8:52786800-52796600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:52786800-52796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:52786800-52797000	Weak transcription	Lung	lung
45	chr8:52786800-52797200	Weak transcription	GM12878-XiMat	blood
46	chr8:52787000-52797000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:52787400-52796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:52787600-52795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:52787600-52796800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:52787600-52796800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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