Variant report

Variant	rs3101543
Chromosome Location	chr8:107618251-107618252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107616460..107618563-chr8:107620891..107623162,2	MCF-7	breast:
2	chr8:107617562..107623335-chr8:107668202..107671640,8	MCF-7	breast:
3	chr8:107612963..107615738-chr8:107617807..107620610,3	MCF-7	breast:
4	chr8:107616759..107623874-chr8:107668754..107672668,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10505093	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs1462810	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968805	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2045786	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045788	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3101526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101528	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3101542	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101545	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101546	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101547	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101548	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110421	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110422	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3110423	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110424	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110426	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3110427	0.81[ASN][1000 genomes]
rs3110430	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3110433	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110775	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132801	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3132803	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134121	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3134125	0.94[CHB][hapmap]
rs3134131	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134132	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134141	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134142	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:107610800-107619200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:107611600-107619400	Weak transcription	Fetal Thymus	thymus
5	chr8:107612800-107618800	Weak transcription	Gastric	stomach
6	chr8:107614400-107618400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:107616000-107620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:107616800-107620200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:107616800-107624200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:107617000-107623400	Weak transcription	Right Atrium	heart
11	chr8:107617200-107618800	Weak transcription	NHEK	skin
12	chr8:107617200-107619000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:107617200-107619400	Weak transcription	Fetal Kidney	kidney
14	chr8:107617200-107623600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:107617200-107641000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:107617400-107618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:107617400-107619000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:107617400-107619200	Weak transcription	Fetal Stomach	stomach
19	chr8:107617600-107618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:107617800-107619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:107617800-107619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:107618000-107623800	Enhancers	Stomach Mucosa	stomach
23	chr8:107618200-107621400	Enhancers	Cortex derived primary cultured neurospheres	brain

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