Variant report

Variant	rs2271567
Chromosome Location	chr8:55049255-55049256
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
2	chr8:54792772..54795313-chr8:55047110..55049629,2	MCF-7	breast:
3	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
4	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
5	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
6	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
7	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
8	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147509	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000120992	Chromatin interaction
ENSG00000251835	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10216491	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1039926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504161	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1050523	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap]
rs10958396	0.91[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10958397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11984645	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984672	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986577	0.87[CHB][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap]
rs11991952	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11993959	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994629	0.91[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs11996128	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114043	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114739	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674895	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12679103	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679542	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276927	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277185	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919782	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919784	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1828835	0.92[EUR][1000 genomes]
rs2008122	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292589	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375696	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28573859	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34168614	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34997387	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4440612	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4506187	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4737479	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.92[EUR][1000 genomes]
rs4737485	0.92[EUR][1000 genomes]
rs4737486	0.92[EUR][1000 genomes]
rs4737487	0.87[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs4737488	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs4737503	0.95[MEX][hapmap]
rs4738519	0.91[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap]
rs4738678	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58387069	0.92[EUR][1000 genomes]
rs58419852	0.80[EUR][1000 genomes]
rs58948369	0.90[EUR][1000 genomes]
rs61213253	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473913	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473914	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473915	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011430	0.81[EUR][1000 genomes]
rs7012031	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71517558	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614667	0.92[EUR][1000 genomes]
rs72614668	0.93[EUR][1000 genomes]
rs72614670	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72614671	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463083	0.87[CHB][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap]
rs7464767	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7830051	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842911	0.93[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9298497	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap]
rs952194	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs981638	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr8:55047600-55049800	Active TSS	GM12878-XiMat	blood
2	chr8:55048200-55055400	Weak transcription	Spleen	Spleen
3	chr8:55048400-55049800	Weak transcription	Esophagus	oesophagus
4	chr8:55048400-55049800	Weak transcription	Lung	lung
5	chr8:55048400-55049800	Weak transcription	Pancreas	Pancrea
6	chr8:55048400-55050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:55048400-55055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:55048400-55055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:55048400-55055600	Weak transcription	Gastric	stomach
10	chr8:55048400-55056200	Weak transcription	Small Intestine	intestine
11	chr8:55048600-55049400	Weak transcription	Placenta	Placenta
12	chr8:55048600-55049600	Weak transcription	Fetal Stomach	stomach
13	chr8:55048600-55049600	Weak transcription	Left Ventricle	heart
14	chr8:55048600-55049800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:55048600-55050000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:55048600-55050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:55048600-55051000	Weak transcription	Ovary	ovary
18	chr8:55048600-55053600	Weak transcription	HSMMtube	muscle
19	chr8:55048600-55055200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:55048600-55055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:55048600-55055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:55048600-55055400	Weak transcription	Colonic Mucosa	Colon
23	chr8:55048600-55056000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:55048600-55056200	Weak transcription	Aorta	Aorta
25	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:55048800-55049400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:55048800-55049400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:55048800-55049600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:55048800-55049800	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:55048800-55050000	Genic enhancers	Liver	Liver
32	chr8:55048800-55056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:55048800-55063200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:55049000-55049400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:55049000-55049400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
36	chr8:55049000-55049400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:55049000-55049400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:55049000-55049400	Strong transcription	Fetal Lung	lung
39	chr8:55049000-55049400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:55049000-55049400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:55049000-55049400	Transcr. at gene 5' and 3'	A549	lung
42	chr8:55049000-55049400	Weak transcription	HSMM	muscle
43	chr8:55049000-55049400	Genic enhancers	NH-A	brain
44	chr8:55049000-55049400	Genic enhancers	NHEK	skin
45	chr8:55049000-55049600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:55049000-55049600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:55049000-55049600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:55049000-55049600	Enhancers	HepG2	liver
49	chr8:55049000-55049800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:55049000-55049800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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