Variant report

Variant	rs548488
Chromosome Location	chr8:103909612-103909613
allele	A/T
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	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
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10104704	0.81[AFR][1000 genomes]
rs10104995	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1055376	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs10955294	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11776547	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993347	0.80[EUR][1000 genomes]
rs1434235	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1806299	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2164061	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2256440	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2436844	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2513919	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2513921	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2513922	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2513935	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2570942	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2570947	0.92[ASN][1000 genomes]
rs2570950	0.92[ASN][1000 genomes]
rs2679741	0.85[YRI][hapmap]
rs2679742	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs2679749	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2679752	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2679754	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2679755	0.91[ASN][1000 genomes]
rs2679756	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679757	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679759	0.86[YRI][hapmap]
rs28594922	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916561	0.92[ASN][1000 genomes]
rs491770	0.83[AFR][1000 genomes]
rs492770	0.83[AFR][1000 genomes]
rs551241	0.83[AFR][1000 genomes]
rs565720	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs567395	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs601588	0.85[YRI][hapmap]
rs647313	0.82[AFR][1000 genomes]
rs665298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667927	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs678839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833202	0.81[YRI][hapmap]
rs892484	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs972142	0.89[CHB][hapmap];1.00[JPT][hapmap]

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	chr8:103907400-103909800	Weak transcription	Pancreas	Pancrea
14	chr8:103907400-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:103907400-103910000	Weak transcription	Liver	Liver
16	chr8:103907400-103910000	Weak transcription	GM12878-XiMat	blood
17	chr8:103907400-103910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:103907400-103910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:103907400-103910200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:103907400-103910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:103907400-103910200	Weak transcription	HSMMtube	muscle
22	chr8:103907400-103910400	Weak transcription	Fetal Heart	heart
23	chr8:103907400-103910600	Weak transcription	Right Ventricle	heart
24	chr8:103907400-103910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:103907400-103910800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:103907400-103911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
28	chr8:103907600-103910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:103907600-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:103907600-103910000	Weak transcription	Brain Anterior Caudate	brain
31	chr8:103907600-103910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:103907600-103910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
34	chr8:103907800-103910000	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:103907800-103910000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:103907800-103910000	Weak transcription	Brain Substantia Nigra	brain
37	chr8:103907800-103910000	Weak transcription	Stomach Mucosa	stomach
38	chr8:103907800-103910400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:103907800-103910600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103907800-103911000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
42	chr8:103907800-103922600	Weak transcription	Gastric	stomach
43	chr8:103908000-103910400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:103908000-103913200	Weak transcription	Spleen	Spleen
45	chr8:103908400-103910800	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:103908600-103910400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:103908600-103910800	Enhancers	Primary B cells from cord blood	blood
48	chr8:103908600-103911200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:103908800-103910200	Enhancers	Adipose Nuclei	Adipose
50	chr8:103908800-103910400	Enhancers	Primary hematopoietic stem cells	blood

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