Variant report

Variant	rs12675605
Chromosome Location	chr8:105565663-105565664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105565492..105567421-chr8:105600088..105601868,2	MCF-7	breast:
2	chr8:105565178..105567381-chr8:105597153..105599899,2	K562	blood:
3	chr8:105564767..105567386-chr8:105599921..105602701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10505062	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808392	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955357	0.82[EUR][1000 genomes]
rs11775166	0.84[EUR][1000 genomes]
rs11775331	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776230	0.88[EUR][1000 genomes]
rs11777528	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779233	0.82[ASN][1000 genomes]
rs11781863	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11782169	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11782366	0.81[AMR][1000 genomes]
rs11782889	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783063	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783104	0.88[EUR][1000 genomes]
rs11783651	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784193	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785071	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11786825	0.82[EUR][1000 genomes]
rs11787202	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989936	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996303	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675273	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12676758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677793	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678904	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680652	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681898	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682004	0.82[ASN][1000 genomes]
rs13250948	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254058	0.85[AMR][1000 genomes]
rs13257283	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13259268	0.81[EUR][1000 genomes]
rs13260018	0.85[AMR][1000 genomes]
rs13262954	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13265309	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13265320	0.85[AMR][1000 genomes]
rs13266739	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13268122	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13270263	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279448	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16871500	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1837203	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2880074	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs33999897	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34008887	0.84[EUR][1000 genomes]
rs34145689	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155810	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155867	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34255383	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34299626	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34306176	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34340810	0.81[AMR][1000 genomes]
rs34435802	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34493777	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34556973	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34690452	0.85[AMR][1000 genomes]
rs34695252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34873943	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34881302	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34971735	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35013911	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35085883	0.81[AMR][1000 genomes]
rs35140929	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35258168	0.81[AMR][1000 genomes]
rs35263244	0.88[EUR][1000 genomes]
rs35349928	0.82[ASN][1000 genomes]
rs35379160	0.84[EUR][1000 genomes]
rs35394104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35467682	0.84[EUR][1000 genomes]
rs35517423	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35635659	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35649342	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767747	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795037	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4288345	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4552868	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4593510	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66494641	0.82[EUR][1000 genomes]
rs67089516	0.84[EUR][1000 genomes]
rs67555988	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984152	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990243	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994764	0.93[EUR][1000 genomes]
rs6995010	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7004507	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009594	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71520889	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520891	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520892	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520893	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520897	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520900	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71520901	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs731126	0.84[EUR][1000 genomes]
rs7821181	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824500	0.84[EUR][1000 genomes]
rs7834086	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842204	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7845137	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
3	chr8:105559000-105565800	Weak transcription	K562	blood
4	chr8:105563000-105565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:105565000-105565800	Enhancers	Lung	lung
6	chr8:105565000-105566000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr8:105565000-105566000	Enhancers	Adipose Nuclei	Adipose
8	chr8:105565000-105566000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr8:105565200-105565800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:105565200-105566000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:105565200-105566000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:105565200-105566000	Enhancers	Right Atrium	heart
13	chr8:105565200-105566000	Enhancers	Right Ventricle	heart
14	chr8:105565200-105566400	ZNF genes & repeats	Fetal Stomach	stomach
15	chr8:105565200-105566600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:105565400-105565800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr8:105565400-105565800	Genic enhancers	Dnd41	blood
18	chr8:105565400-105566000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:105565400-105566000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:105565400-105566200	Enhancers	Left Ventricle	heart
21	chr8:105565600-105565800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:105565600-105565800	ZNF genes & repeats	Aorta	Aorta
23	chr8:105565600-105565800	Enhancers	Brain Substantia Nigra	brain
24	chr8:105565600-105565800	Genic enhancers	Ovary	ovary
25	chr8:105565600-105566000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:105565600-105566000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:105565600-105566000	Enhancers	Spleen	Spleen
28	chr8:105565600-105566000	Enhancers	Osteobl	bone
29	chr8:105565600-105566200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:105565600-105566200	Enhancers	Psoas Muscle	Psoas
31	chr8:105565600-105566200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:105565600-105566400	ZNF genes & repeats	Fetal Thymus	thymus
33	chr8:105565600-105568000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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