Variant report

Variant	rs12547574
Chromosome Location	chr8:103675402-103675403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103674994..103677007-chr8:103818020..103820756,2	MCF-7	breast:
2	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
3	chr8:103672071..103674387-chr8:103675400..103678194,2	K562	blood:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
5	chr8:103611593..103614378-chr8:103673976..103676752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10955288	0.83[AFR][1000 genomes]
rs12546601	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548858	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12549399	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674646	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674767	0.83[AFR][1000 genomes]
rs12675196	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675239	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680598	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680908	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869676	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869695	0.96[ASN][1000 genomes]
rs16869724	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436946	0.93[ASN][1000 genomes]
rs2471847	0.97[ASN][1000 genomes]
rs2511701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511718	0.96[ASN][1000 genomes]
rs2511719	0.96[ASN][1000 genomes]
rs2511730	0.97[ASN][1000 genomes]
rs2734824	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2916570	0.96[ASN][1000 genomes]
rs3018443	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35509459	0.83[AFR][1000 genomes]
rs55750587	0.83[AFR][1000 genomes]
rs55814340	0.83[AFR][1000 genomes]
rs56929055	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72683098	0.83[AFR][1000 genomes]
rs72683100	0.83[AFR][1000 genomes]
rs72683101	0.83[AFR][1000 genomes]
rs72683102	0.83[AFR][1000 genomes]
rs72685109	0.81[ASN][1000 genomes]
rs72685110	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685117	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685118	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685123	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685128	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276720	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642792	0.83[ASN][1000 genomes]
rs980112	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103670800-103678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:103671000-103675600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:103671000-103678600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:103671200-103678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:103673400-103675600	Enhancers	Spleen	Spleen
6	chr8:103673400-103675600	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:103673600-103675600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:103673600-103675600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:103673600-103675600	Enhancers	Fetal Thymus	thymus
10	chr8:103673600-103675600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:103673800-103675600	Enhancers	Right Atrium	heart
12	chr8:103674200-103675600	Enhancers	Brain Hippocampus Middle	brain
13	chr8:103674200-103675600	Enhancers	Colon Smooth Muscle	Colon
14	chr8:103674200-103675600	Enhancers	Placenta	Placenta
15	chr8:103674400-103675600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:103674400-103675600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:103674400-103675600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr8:103674400-103675600	Enhancers	Fetal Intestine Small	intestine
19	chr8:103674400-103675600	Enhancers	Fetal Lung	lung
20	chr8:103674400-103675600	Enhancers	Fetal Stomach	stomach
21	chr8:103674400-103675600	Enhancers	Lung	lung
22	chr8:103674400-103675600	Enhancers	Small Intestine	intestine
23	chr8:103674400-103675600	Enhancers	Stomach Mucosa	stomach
24	chr8:103674400-103675600	Enhancers	NHDF-Ad	bronchial
25	chr8:103674600-103675600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:103674600-103675600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr8:103674600-103675600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:103674600-103675600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr8:103674600-103675600	Enhancers	Left Ventricle	heart
30	chr8:103674600-103675600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:103674600-103675600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:103674600-103675600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr8:103674600-103675600	Enhancers	K562	blood
34	chr8:103674600-103675600	Enhancers	NHEK	skin
35	chr8:103674600-103679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:103675000-103675600	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:103675000-103675600	Enhancers	Brain Substantia Nigra	brain
38	chr8:103675000-103675600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:103675000-103675600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr8:103675000-103675600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:103675200-103675600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:103675200-103675600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:103675200-103675600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:103675200-103675600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:103675200-103675600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:103675200-103675600	Enhancers	Adipose Nuclei	Adipose
47	chr8:103675200-103675600	Enhancers	Esophagus	oesophagus
48	chr8:103675200-103675600	Enhancers	Gastric	stomach
49	chr8:103675200-103675600	Enhancers	Ovary	ovary
50	chr8:103675200-103675600	Enhancers	Skeletal Muscle Female	skeletal muscle

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