Variant report

Variant	rs13276960
Chromosome Location	chr8:103908004-103908005
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	POLR2A	chr8:103907770-103908197	HL-60	blood:	n/a	n/a
2	POLR2A	chr8:103907992-103908219	K562	blood:	n/a	n/a
3	CEBPB	chr8:103907898-103908027	H1-hESC	embryonic stem cell:	n/a	chr8:103907990-103908001
4	CEBPB	chr8:103908004-103908016	K562	blood:	n/a	n/a
5	CEBPB	chr8:103907948-103908040	HepG2	liver:	n/a	chr8:103907990-103908001

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
2	chr8:103907713..103911822-chr8:103912722..103917770,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF10-1	chr8:103905962-103908782	NONHSAT128128

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13278305	1.00[ASN][1000 genomes]
rs17200107	1.00[ASN][1000 genomes]
rs6468841	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990288	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991188	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841632	0.86[EUR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
4	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
6	chr8:103900800-103908600	Weak transcription	Primary B cells from cord blood	blood
7	chr8:103905200-103910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:103905400-103910800	Enhancers	Placenta	Placenta
9	chr8:103906200-103909400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:103906400-103909200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:103906600-103910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:103907000-103910600	Weak transcription	HSMM	muscle
13	chr8:103907000-103911600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:103907200-103909000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:103907200-103910400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:103907200-103910400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:103907200-103912800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:103907400-103908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:103907400-103908800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:103907400-103908800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:103907400-103909000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:103907400-103909000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:103907400-103909000	Weak transcription	Psoas Muscle	Psoas
24	chr8:103907400-103909200	Weak transcription	Left Ventricle	heart
25	chr8:103907400-103909200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:103907400-103909600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:103907400-103909800	Weak transcription	Pancreas	Pancrea
28	chr8:103907400-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:103907400-103910000	Weak transcription	Liver	Liver
30	chr8:103907400-103910000	Weak transcription	GM12878-XiMat	blood
31	chr8:103907400-103910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:103907400-103910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:103907400-103910200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:103907400-103910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:103907400-103910200	Weak transcription	HSMMtube	muscle
36	chr8:103907400-103910400	Weak transcription	Fetal Heart	heart
37	chr8:103907400-103910600	Weak transcription	Right Ventricle	heart
38	chr8:103907400-103910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:103907400-103910800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:103907400-103911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
42	chr8:103907600-103908600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr8:103907600-103910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:103907600-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:103907600-103910000	Weak transcription	Brain Anterior Caudate	brain
46	chr8:103907600-103910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:103907600-103910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
49	chr8:103907800-103908400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:103907800-103908800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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