Variant report

Variant	rs13261180
Chromosome Location	chr8:42879512-42879513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42877910..42880847-chr8:42913802..42915960,2	K562	blood:

Variant related genes	Relation type
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10087388	0.90[JPT][hapmap]
rs10095511	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs10107370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10107916	0.86[EUR][1000 genomes]
rs10111452	0.84[AMR][1000 genomes]
rs10435641	0.90[CHB][hapmap]
rs10448065	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs10808963	1.00[CEU][hapmap]
rs1081884	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1081885	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1081886	0.90[AMR][1000 genomes]
rs10958736	0.92[CHB][hapmap];0.80[CHD][hapmap];0.88[ASN][1000 genomes]
rs10958738	0.92[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1129987	0.81[ASN][1000 genomes]
rs13280254	0.85[ASN][1000 genomes]
rs1620525	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]
rs1625050	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1648119	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1648120	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1648121	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs16891647	1.00[MEX][hapmap]
rs2042674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2376489	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2376490	0.90[ASN][1000 genomes]
rs28539345	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28626408	0.85[ASN][1000 genomes]
rs28688473	0.81[EUR][1000 genomes]
rs3867147	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4236927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4272427	0.92[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs4294230	0.83[ASN][1000 genomes]
rs4512420	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4523300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4559283	0.92[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs4623474	0.92[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs4736844	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs4737080	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6474429	0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs6986338	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6989998	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs7001861	1.00[ASW][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7012985	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7016673	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs773068	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs773069	0.83[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs773070	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs773072	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes]
rs7812948	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7815800	1.00[CEU][hapmap]
rs7819737	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7835435	0.83[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs7838753	0.92[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs798827	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9643854	0.92[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs9643855	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs9643892	0.92[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]

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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
5	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
14	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
15	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:42864200-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:42866000-42889400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:42866200-42889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:42867200-42889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:42867400-42884200	Weak transcription	Colonic Mucosa	Colon
22	chr8:42867600-42884200	Weak transcription	A549	lung
23	chr8:42868000-42889400	Weak transcription	NHEK	skin
24	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:42869000-42882600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:42869200-42883400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:42870200-42882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:42870200-42890800	Weak transcription	Fetal Brain Male	brain
29	chr8:42870600-42880400	Weak transcription	Right Ventricle	heart
30	chr8:42872000-42881000	Strong transcription	Dnd41	blood
31	chr8:42873200-42889600	Weak transcription	Aorta	Aorta
32	chr8:42873800-42880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:42873800-42887600	Weak transcription	HepG2	liver
34	chr8:42873800-42889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:42873800-42889400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:42873800-42889400	Weak transcription	Ovary	ovary
37	chr8:42873800-42889400	Weak transcription	Thymus	Thymus
38	chr8:42873800-42889400	Weak transcription	Spleen	Spleen
39	chr8:42873800-42891000	Weak transcription	NHLF	lung
40	chr8:42873800-42891400	Weak transcription	Esophagus	oesophagus
41	chr8:42873800-42891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:42873800-42892200	Weak transcription	Gastric	stomach
43	chr8:42874000-42884200	Weak transcription	Fetal Thymus	thymus
44	chr8:42874000-42886800	Weak transcription	GM12878-XiMat	blood
45	chr8:42874200-42891400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:42874600-42882800	Weak transcription	Fetal Brain Female	brain
47	chr8:42874600-42889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:42874800-42884600	Weak transcription	K562	blood
49	chr8:42875000-42889400	Weak transcription	Brain Angular Gyrus	brain
50	chr8:42875000-42889600	Weak transcription	HMEC	breast

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