Variant report

Variant	rs11818544
Chromosome Location	chr10:4987846-4987847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4984238..4986431-chr10:4987413..4989346,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10795214	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10904376	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10904377	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10904379	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34540171	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503432	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv894793	chr10:4935482-4988818	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4968600-4990800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4973000-5005600	Weak transcription	Left Ventricle	heart
3	chr10:4973200-4994800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:4974000-4990600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:4974200-4990600	Weak transcription	Esophagus	oesophagus
6	chr10:4977800-4988200	Weak transcription	Pancreas	Pancrea
7	chr10:4982000-4989600	Enhancers	HepG2	liver
8	chr10:4983600-4991600	Enhancers	Adipose Nuclei	Adipose
9	chr10:4984000-4988000	Enhancers	NHDF-Ad	bronchial
10	chr10:4984000-4990400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:4984200-4989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:4984800-4988400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:4985000-4989000	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:4985000-4989200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:4985400-4988000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:4985400-4990600	Weak transcription	Right Atrium	heart
17	chr10:4985600-4989000	Weak transcription	Stomach Mucosa	stomach
18	chr10:4985600-4989000	Weak transcription	NHEK	skin
19	chr10:4985600-4989200	Weak transcription	HMEC	breast
20	chr10:4985600-4989400	Weak transcription	NH-A	brain
21	chr10:4985600-4989800	Weak transcription	HUVEC	blood vessel
22	chr10:4985600-4990400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:4985800-4989400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:4986000-4990000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:4986200-4989200	Weak transcription	Fetal Lung	lung
26	chr10:4986200-4990000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:4986400-4988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:4986400-4989000	Weak transcription	NHLF	lung
29	chr10:4986400-4990400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:4986600-4989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:4986600-4989400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:4986600-4990000	Weak transcription	Ovary	ovary
33	chr10:4986600-4990200	Weak transcription	Fetal Stomach	stomach
34	chr10:4986600-4990400	Weak transcription	Psoas Muscle	Psoas
35	chr10:4986800-4989000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:4987000-4988200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:4987000-4988200	Genic enhancers	A549	lung
38	chr10:4987000-4989400	Weak transcription	HSMM	muscle
39	chr10:4987000-4990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:4987200-4988200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:4987200-4988600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:4987200-4988600	Weak transcription	Osteobl	bone
43	chr10:4987200-4989400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:4987200-4989800	Enhancers	Liver	Liver
45	chr10:4987200-4990000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:4987200-4991000	Enhancers	Fetal Intestine Small	intestine
47	chr10:4987400-4989600	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:4987400-4991000	Enhancers	Fetal Intestine Large	intestine
49	chr10:4987600-4988000	Weak transcription	Hela-S3	cervix
50	chr10:4987600-4988400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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