Variant report

Variant	rs7013969
Chromosome Location	chr8:61597447-61597448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61595844..61597847-chr8:61600108..61602179,3	MCF-7	breast:
2	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
3	chr8:61595659..61597988-chr8:61649091..61651205,2	MCF-7	breast:
4	chr8:61563298..61566288-chr8:61597428..61599462,2	K562	blood:
5	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
6	chr8:61586135..61588890-chr8:61597344..61600255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13256570	1.00[TSI][hapmap]
rs13261519	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13269361	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275837	0.88[AMR][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926398	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926440	1.00[ASN][1000 genomes]
rs16926444	1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	1.00[ASN][1000 genomes]
rs28539276	1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34301717	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34833917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272442	1.00[ASN][1000 genomes]
rs62524942	1.00[ASN][1000 genomes]
rs62524943	1.00[ASN][1000 genomes]
rs62524944	1.00[ASN][1000 genomes]
rs62524946	1.00[ASN][1000 genomes]
rs62524950	1.00[ASN][1000 genomes]
rs62524951	1.00[ASN][1000 genomes]
rs62524954	1.00[ASN][1000 genomes]
rs62524956	1.00[ASN][1000 genomes]
rs62524957	1.00[ASN][1000 genomes]
rs62526484	1.00[ASN][1000 genomes]
rs62526485	1.00[ASN][1000 genomes]
rs62526486	1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6471895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986750	1.00[CEU][hapmap]
rs6988200	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[LWK][hapmap]
rs730084	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	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	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61594000-61597600	Weak transcription	K562	blood
3	chr8:61594000-61598000	Enhancers	Fetal Heart	heart
4	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:61594000-61610400	Weak transcription	A549	lung
6	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
9	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
10	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
12	chr8:61594400-61599200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:61594400-61599800	Enhancers	Brain Hippocampus Middle	brain
14	chr8:61594400-61600800	Enhancers	Primary T cells from cord blood	blood
15	chr8:61594800-61598000	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:61594800-61598000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:61595000-61597600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:61595000-61598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:61595200-61598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:61595400-61598000	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:61595600-61598000	Enhancers	Liver	Liver
22	chr8:61595600-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:61595800-61597800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:61595800-61598000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:61595800-61598200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:61595800-61599800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:61596000-61597800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:61596000-61598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:61596000-61599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:61596000-61599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:61596200-61597600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:61596200-61597800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:61596200-61597800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:61596200-61597800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:61596200-61597800	Enhancers	Gastric	stomach
36	chr8:61596200-61598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:61596200-61598000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:61596200-61598000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:61596200-61598000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:61596200-61598000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:61596200-61598000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:61596200-61598200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:61596200-61598200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:61596200-61598200	Enhancers	Left Ventricle	heart
45	chr8:61596200-61598200	Enhancers	Psoas Muscle	Psoas
46	chr8:61596200-61598400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:61596200-61598400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr8:61596200-61599200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:61596400-61597600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:61596600-61597600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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