Variant report

Variant	rs16926398
Chromosome Location	chr8:61606745-61606746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61594274..61596445-chr8:61605915..61607443,2	MCF-7	breast:
2	chr8:61601737..61603348-chr8:61606675..61608350,2	MCF-7	breast:
3	chr8:61604857..61607132-chr8:61609872..61611507,2	MCF-7	breast:
4	chr8:61605995..61607571-chr8:61609134..61612024,2	MCF-7	breast:
5	chr8:61564774..61566716-chr8:61606613..61609248,2	MCF-7	breast:
6	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
7	chr8:61596105..61598331-chr8:61606151..61608898,3	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:35)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13261519	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13269361	0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275837	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34833917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777815	0.91[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988200	1.00[CEU][hapmap]
rs7013969	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730084	1.00[ASN][1000 genomes]

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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:82 , 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	chr8:61597400-61607400	Weak transcription	Small Intestine	intestine
6	chr8:61598000-61609000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:61598000-61609600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:61598200-61619800	Weak transcription	HepG2	liver
9	chr8:61598800-61608000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:61599200-61613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:61600200-61612200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:61601800-61607400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:61602600-61606800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:61602600-61606800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:61602600-61606800	Weak transcription	Fetal Lung	lung
16	chr8:61602600-61607000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:61602600-61607400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:61602600-61610800	Weak transcription	Fetal Intestine Small	intestine
19	chr8:61603400-61610200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:61603400-61613400	Weak transcription	K562	blood
21	chr8:61603400-61616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
24	chr8:61603800-61607600	Enhancers	Primary T cells from cord blood	blood
25	chr8:61603800-61608200	Enhancers	Brain Germinal Matrix	brain
26	chr8:61604000-61607400	Enhancers	Brain Hippocampus Middle	brain
27	chr8:61604400-61614200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:61604600-61607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:61604600-61609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:61605200-61607400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:61605200-61607400	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:61605200-61607400	Enhancers	Gastric	stomach
33	chr8:61605200-61607600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:61605200-61607600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:61605200-61607600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:61605200-61607600	Enhancers	Psoas Muscle	Psoas
37	chr8:61605200-61607800	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:61605200-61607800	Enhancers	Left Ventricle	heart
39	chr8:61605200-61608200	Enhancers	Brain Substantia Nigra	brain
40	chr8:61605200-61608600	Enhancers	Brain Anterior Caudate	brain
41	chr8:61605400-61606800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:61605400-61606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:61605400-61607200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:61605400-61607600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:61605400-61607600	Enhancers	Right Ventricle	heart
46	chr8:61605600-61607600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:61605600-61607600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:61605600-61607600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:61605600-61607600	Enhancers	GM12878-XiMat	blood
50	chr8:61605600-61607800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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