Variant report

Variant	rs13278198
Chromosome Location	chr8:61678993-61678994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61676134..61677689-chr8:61677907..61680647,2	MCF-7	breast:
2	chr8:61590330..61593541-chr8:61678134..61679718,3	MCF-7	breast:
3	chr8:61676637..61679256-chr8:61683583..61686325,2	K562	blood:
4	chr8:61678725..61681401-chr8:61683493..61686141,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088263	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1038353	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957159	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957160	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11775560	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12056700	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13255052	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326597	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34022185	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34345692	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35149496	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35254359	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35687554	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35914442	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471900	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471904	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67670110	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6987611	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6988835	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6989150	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6994642	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7460516	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823926	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833957	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846314	1.00[ASN][1000 genomes]
rs9298041	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61657000-61690400	Weak transcription	HepG2	liver
2	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
3	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
4	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:61671800-61679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:61672000-61681000	Weak transcription	NHEK	skin
9	chr8:61672000-61694400	Weak transcription	A549	lung
10	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
11	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
12	chr8:61672400-61679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:61672600-61679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:61672600-61679600	Weak transcription	HSMMtube	muscle
15	chr8:61672600-61681000	Weak transcription	Fetal Brain Female	brain
16	chr8:61672600-61685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61672800-61680000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:61674800-61679000	Weak transcription	Fetal Kidney	kidney
19	chr8:61675000-61679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:61675000-61679000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:61675000-61679400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:61675000-61679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:61675000-61679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:61675000-61679800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:61675000-61682400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:61675000-61683200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:61675000-61687000	Weak transcription	Fetal Stomach	stomach
28	chr8:61675200-61679000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:61675200-61679200	Weak transcription	Primary T cells from cord blood	blood
30	chr8:61675400-61679000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:61675400-61679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:61675400-61679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:61675400-61679600	Weak transcription	Fetal Lung	lung
34	chr8:61675600-61679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:61676000-61679000	Weak transcription	Lung	lung
36	chr8:61676200-61679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:61676400-61679000	Weak transcription	HSMM	muscle
38	chr8:61676400-61679200	Weak transcription	Primary B cells from cord blood	blood
39	chr8:61676400-61679600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:61676400-61679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:61676400-61679800	Weak transcription	K562	blood
42	chr8:61676400-61687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:61677000-61691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:61677200-61683200	Enhancers	Fetal Heart	heart
45	chr8:61677400-61680600	Enhancers	Left Ventricle	heart
46	chr8:61677400-61682000	Enhancers	GM12878-XiMat	blood
47	chr8:61677600-61679000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:61677600-61679200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:61677600-61679600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:61677600-61679600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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