Variant report

Variant	rs6040427
Chromosome Location	chr20:11185966-11185967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:10676677..10677565-chr20:11185885..11186708,3	MCF-7	breast:
2	chr20:11185575..11186124-chr20:11254374..11255017,2	MCF-7	breast:
3	chr20:10655152..10655986-chr20:11185609..11186210,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1013497	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013498	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1016241	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2327345	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3946078	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300903	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813964	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033054	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033058	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6033061	1.00[JPT][hapmap]
rs6078102	0.89[CHB][hapmap]
rs6104722	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6108860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975481	0.93[EUR][1000 genomes];0.98[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585416	chr20:11156775-11190087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11183800-11186000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr20:11184200-11186000	Enhancers	Ovary	ovary
3	chr20:11184400-11188600	Weak transcription	Aorta	Aorta
4	chr20:11185200-11188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:11185200-11190000	Enhancers	HMEC	breast
6	chr20:11185400-11188200	Enhancers	NHEK	skin
7	chr20:11185400-11189400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:11185400-11189600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:11185600-11186200	Enhancers	Colon Smooth Muscle	Colon
10	chr20:11185600-11186200	Enhancers	Fetal Heart	heart
11	chr20:11185600-11186400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:11185600-11186400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr20:11185600-11186600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:11185600-11186800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr20:11185600-11186800	Enhancers	Osteobl	bone
16	chr20:11185600-11187400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:11185600-11188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:11185600-11189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:11185600-11189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:11185800-11186000	Enhancers	A549	lung
21	chr20:11185800-11186000	Enhancers	HSMM	muscle
22	chr20:11185800-11186200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr20:11185800-11186200	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:11185800-11186200	Enhancers	Rectal Smooth Muscle	rectum
25	chr20:11185800-11186400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:11185800-11186400	Enhancers	Fetal Kidney	kidney
27	chr20:11185800-11186400	Enhancers	Stomach Mucosa	stomach
28	chr20:11185800-11186400	Enhancers	GM12878-XiMat	blood
29	chr20:11185800-11186600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr20:11185800-11186600	Enhancers	Brain Hippocampus Middle	brain
31	chr20:11185800-11186600	Enhancers	Fetal Intestine Large	intestine
32	chr20:11185800-11186600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr20:11185800-11186800	Enhancers	Adipose Nuclei	Adipose
34	chr20:11185800-11186800	Enhancers	Fetal Intestine Small	intestine

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