Variant report

Variant	rs62524913
Chromosome Location	chr8:61609483-61609484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61597723..61599279-chr8:61608776..61610801,2	K562	blood:
2	chr8:61594018..61597231-chr8:61607679..61611092,4	K562	blood:
3	chr8:61605995..61607571-chr8:61609134..61612024,2	MCF-7	breast:
4	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
5	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:
6	chr8:61590547..61593297-chr8:61607284..61609575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16926440	0.86[EUR][1000 genomes]
rs16926444	0.86[EUR][1000 genomes]
rs41312172	1.00[AMR][1000 genomes]
rs45461501	1.00[AMR][1000 genomes]
rs62510252	1.00[AMR][1000 genomes]
rs62512702	1.00[AMR][1000 genomes]
rs62524908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524942	0.86[EUR][1000 genomes]
rs62524943	0.86[EUR][1000 genomes]
rs62524944	0.86[EUR][1000 genomes]
rs62524946	0.86[EUR][1000 genomes]
rs62524949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524950	0.86[EUR][1000 genomes]
rs62524952	0.86[EUR][1000 genomes]
rs62524954	0.86[EUR][1000 genomes]
rs730084	0.86[EUR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61594000-61610400	Weak transcription	A549	lung
2	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
3	chr8:61597000-61619800	Weak transcription	HMEC	breast
4	chr8:61598000-61609600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:61598200-61619800	Weak transcription	HepG2	liver
6	chr8:61599200-61613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:61600200-61612200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:61602600-61610800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:61603400-61610200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:61603400-61613400	Weak transcription	K562	blood
11	chr8:61603400-61616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
14	chr8:61604400-61614200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:61605800-61615400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:61606000-61611400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:61606200-61612000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:61606400-61620400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:61606600-61610200	Weak transcription	Primary B cells from cord blood	blood
20	chr8:61607000-61610800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:61607200-61612000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:61607200-61613400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:61607200-61619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:61607400-61610200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:61607400-61612800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:61607400-61612800	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:61607400-61613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:61607400-61613000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:61607400-61613000	Weak transcription	Gastric	stomach
30	chr8:61607400-61615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:61607400-61619800	Weak transcription	Fetal Lung	lung
32	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
33	chr8:61607600-61610200	Weak transcription	GM12878-XiMat	blood
34	chr8:61607600-61612800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:61607600-61612800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:61607600-61613000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:61607600-61613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:61607600-61613000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:61607600-61613000	Weak transcription	Pancreas	Pancrea
40	chr8:61607600-61613000	Weak transcription	Psoas Muscle	Psoas
41	chr8:61607600-61613000	Weak transcription	Right Ventricle	heart
42	chr8:61607600-61613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:61607600-61613200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:61607600-61614000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:61607600-61614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:61607600-61615000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:61607600-61615800	Weak transcription	Small Intestine	intestine
48	chr8:61607600-61616200	Weak transcription	Right Atrium	heart
49	chr8:61607600-61620400	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:61607800-61610200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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