Variant report

Variant	rs62522626
Chromosome Location	chr8:103909414-103909415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:103908956-103909533	ECC-1	luminal epithelium:	n/a	chr8:103909234-103909247
2	TCF12	chr8:103908771-103909423	ECC-1	luminal epithelium:	n/a	n/a
3	SRF	chr8:103908955-103909599	ECC-1	luminal epithelium:	n/a	chr8:103909430-103909441 chr8:103909427-103909445 chr8:103909432-103909441 chr8:103909432-103909443 chr8:103909428-103909445 chr8:103909430-103909443 chr8:103909431-103909442 chr8:103909431-103909448 chr8:103909429-103909444 chr8:103909430-103909443
4	EP300	chr8:103908749-103909547	ECC-1	luminal epithelium:	n/a	chr8:103909234-103909247 chr8:103909528-103909542
5	SRF	chr8:103908832-103909675	ECC-1	luminal epithelium:	n/a	chr8:103909430-103909441 chr8:103909427-103909445 chr8:103909432-103909441 chr8:103909432-103909443 chr8:103909428-103909445 chr8:103909430-103909443 chr8:103909431-103909442 chr8:103909431-103909448 chr8:103909429-103909444 chr8:103909430-103909443

No.	Distal block	Cell Line	Cell type
1	chr8:103876013..103877584-chr8:103908300..103910419,2	K562	blood:
2	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
3	chr8:103893102..103894642-chr8:103909185..103910728,2	MCF-7	breast:
4	chr8:103907713..103911822-chr8:103912722..103917770,5	MCF-7	breast:
5	chr8:103874983..103877501-chr8:103909403..103912170,5	MCF-7	breast:

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12544232	0.86[AMR][1000 genomes]
rs12546479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546636	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550185	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197341	0.89[AMR][1000 genomes]
rs17197736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198079	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775390	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734676	0.86[AMR][1000 genomes]
rs4734678	0.86[AMR][1000 genomes]
rs56854051	0.84[AMR][1000 genomes]
rs62522573	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62522576	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526533	0.83[AMR][1000 genomes]
rs62526534	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
3	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
4	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
5	chr8:103905200-103910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:103905400-103910800	Enhancers	Placenta	Placenta
7	chr8:103906600-103910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:103907000-103910600	Weak transcription	HSMM	muscle
9	chr8:103907000-103911600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:103907200-103910400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:103907200-103910400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:103907200-103912800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:103907400-103909600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:103907400-103909800	Weak transcription	Pancreas	Pancrea
15	chr8:103907400-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:103907400-103910000	Weak transcription	Liver	Liver
17	chr8:103907400-103910000	Weak transcription	GM12878-XiMat	blood
18	chr8:103907400-103910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:103907400-103910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:103907400-103910200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:103907400-103910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:103907400-103910200	Weak transcription	HSMMtube	muscle
23	chr8:103907400-103910400	Weak transcription	Fetal Heart	heart
24	chr8:103907400-103910600	Weak transcription	Right Ventricle	heart
25	chr8:103907400-103910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:103907400-103910800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:103907400-103911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
29	chr8:103907600-103910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:103907600-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:103907600-103910000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:103907600-103910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:103907600-103910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
35	chr8:103907800-103910000	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:103907800-103910000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:103907800-103910000	Weak transcription	Brain Substantia Nigra	brain
38	chr8:103907800-103910000	Weak transcription	Stomach Mucosa	stomach
39	chr8:103907800-103910400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:103907800-103910600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:103907800-103911000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
43	chr8:103907800-103922600	Weak transcription	Gastric	stomach
44	chr8:103908000-103910400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:103908000-103913200	Weak transcription	Spleen	Spleen
46	chr8:103908400-103910800	Enhancers	Rectal Smooth Muscle	rectum
47	chr8:103908600-103910400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:103908600-103910800	Enhancers	Primary B cells from cord blood	blood
49	chr8:103908600-103911200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:103908800-103910200	Enhancers	Adipose Nuclei	Adipose

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