Variant report

Variant	rs1816804
Chromosome Location	chr15:45935755-45935756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45934455..45936874-chr15:45938212..45940753,2	MCF-7	breast:
2	chr15:45931549..45933106-chr15:45935286..45937099,2	K562	blood:
3	chr15:45933273..45936098-chr15:48986463..48988127,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2083729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099880	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470114	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4270120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4271550	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];0.99[ASN][1000 genomes]
rs593126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607541	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607594	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs626808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629466	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629880	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636910	0.80[YRI][hapmap]
rs642328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673555	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs673596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675413	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675876	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675890	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74009656	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74009657	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8036075	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8036651	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv526945	chr15:45935755-45941689	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
2	chr15:45930000-45937800	Weak transcription	Right Ventricle	heart
3	chr15:45930200-45935800	Enhancers	Fetal Intestine Large	intestine
4	chr15:45930400-45936800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:45930400-45940800	Weak transcription	Fetal Thymus	thymus
6	chr15:45930600-45940800	Weak transcription	Thymus	Thymus
7	chr15:45930800-45936800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:45931000-45936600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:45931000-45938800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:45931600-45936600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr15:45932800-45936600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:45933200-45936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:45933200-45936600	Weak transcription	Primary T cells from cord blood	blood
14	chr15:45933600-45936000	Enhancers	HMEC	breast
15	chr15:45933800-45936000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45933800-45951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:45934200-45936800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:45934200-45937200	Enhancers	Lung	lung
19	chr15:45934200-45938600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:45934200-45961600	Weak transcription	Fetal Kidney	kidney
21	chr15:45934400-45936800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:45934400-45938800	Enhancers	NHLF	lung
23	chr15:45934600-45935800	Enhancers	NHDF-Ad	bronchial
24	chr15:45934600-45936000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:45934600-45936400	Weak transcription	Esophagus	oesophagus
26	chr15:45934600-45936600	Weak transcription	Spleen	Spleen
27	chr15:45934600-45936600	Weak transcription	GM12878-XiMat	blood
28	chr15:45934600-45936800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:45934600-45936800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr15:45934600-45937000	Weak transcription	Placenta	Placenta
31	chr15:45934600-45937400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:45934600-45937400	Enhancers	A549	lung
33	chr15:45934600-45937600	Weak transcription	Ovary	ovary
34	chr15:45934800-45936200	Enhancers	Liver	Liver
35	chr15:45934800-45936600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:45934800-45936600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:45934800-45936800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:45934800-45936800	Weak transcription	Right Atrium	heart
39	chr15:45934800-45936800	Weak transcription	Small Intestine	intestine
40	chr15:45934800-45937000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:45934800-45937000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:45934800-45937000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:45934800-45937800	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:45934800-45937800	Weak transcription	Gastric	stomach
45	chr15:45934800-45937800	Weak transcription	Left Ventricle	heart
46	chr15:45934800-45945800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:45935000-45935800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:45935000-45936800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:45935000-45937000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:45935000-45937000	Weak transcription	Adipose Nuclei	Adipose

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