Variant report

Variant	rs13261519
Chromosome Location	chr8:61605194-61605195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61603796..61605326-chr8:61626958..61629344,2	MCF-7	breast:
2	chr8:61604857..61607132-chr8:61609872..61611507,2	MCF-7	breast:
3	chr8:61599708..61602124-chr8:61603749..61606422,3	MCF-7	breast:
4	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13269361	0.86[YRI][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13275837	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926398	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][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	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs34833917	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35777815	0.93[AFR][1000 genomes];0.92[AMR][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	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7013969	0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs730084	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 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	chr8:61594000-61610400	Weak transcription	A549	lung
3	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
4	chr8:61597000-61619800	Weak transcription	HMEC	breast
5	chr8:61597200-61605200	Weak transcription	Esophagus	oesophagus
6	chr8:61597200-61605200	Weak transcription	Lung	lung
7	chr8:61597400-61605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:61597400-61605600	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:61597400-61607400	Weak transcription	Small Intestine	intestine
10	chr8:61597600-61605200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:61597800-61605200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:61597800-61605200	Weak transcription	Gastric	stomach
13	chr8:61597800-61606600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:61598000-61605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:61598000-61606000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:61598000-61609000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:61598000-61609600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:61598200-61605600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:61598200-61605600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:61598200-61619800	Weak transcription	HepG2	liver
21	chr8:61598800-61608000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:61599200-61613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:61599400-61605200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:61599400-61605400	Weak transcription	Spleen	Spleen
25	chr8:61599400-61605800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:61600200-61612200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:61600800-61605200	Weak transcription	Left Ventricle	heart
28	chr8:61600800-61605600	Weak transcription	Right Atrium	heart
29	chr8:61601600-61605200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:61601800-61607400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:61602200-61605800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:61602600-61606400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:61602600-61606800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:61602600-61606800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:61602600-61606800	Weak transcription	Fetal Lung	lung
36	chr8:61602600-61607000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:61602600-61607400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:61602600-61610800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:61602800-61605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:61603200-61605200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:61603400-61605200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:61603400-61605200	Weak transcription	Fetal Brain Female	brain
43	chr8:61603400-61605200	Weak transcription	Psoas Muscle	Psoas
44	chr8:61603400-61605800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:61603400-61606000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:61603400-61606400	Weak transcription	Fetal Heart	heart
47	chr8:61603400-61610200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:61603400-61613400	Weak transcription	K562	blood
49	chr8:61603400-61616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine

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