Variant report

Variant	rs6033700
Chromosome Location	chr20:13398750-13398751
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13389415..13391531-chr20:13398502..13400479,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs2038436	1.00[AMR][1000 genomes]
rs28445300	1.00[AMR][1000 genomes]
rs35357303	1.00[AMR][1000 genomes]
rs3945993	1.00[AMR][1000 genomes]
rs6033711	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033713	1.00[AMR][1000 genomes]
rs6042062	1.00[AMR][1000 genomes]
rs6042100	1.00[AMR][1000 genomes]
rs6042112	1.00[AMR][1000 genomes]
rs6042114	1.00[AMR][1000 genomes]
rs6042115	1.00[AMR][1000 genomes]
rs6042122	1.00[AMR][1000 genomes]
rs6042125	1.00[AMR][1000 genomes]
rs6042129	1.00[AMR][1000 genomes]
rs6042140	1.00[AMR][1000 genomes]
rs6042144	1.00[AMR][1000 genomes]
rs6042161	1.00[AMR][1000 genomes]
rs6042166	1.00[AMR][1000 genomes]
rs6042173	1.00[AMR][1000 genomes]
rs6042178	1.00[AMR][1000 genomes]
rs6042191	1.00[AMR][1000 genomes]
rs6042193	1.00[AMR][1000 genomes]
rs6042200	1.00[AMR][1000 genomes]
rs6042215	1.00[AMR][1000 genomes]
rs6042216	1.00[AMR][1000 genomes]
rs6042217	1.00[AMR][1000 genomes]
rs6105112	1.00[AMR][1000 genomes]
rs6105114	1.00[AMR][1000 genomes]
rs6105122	1.00[AMR][1000 genomes]
rs6109851	1.00[AMR][1000 genomes]
rs6109852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6109853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6109855	1.00[AMR][1000 genomes]
rs6109856	1.00[AMR][1000 genomes]
rs6109857	1.00[AMR][1000 genomes]
rs6109860	1.00[AMR][1000 genomes]
rs6109874	1.00[AMR][1000 genomes]
rs6109878	1.00[AMR][1000 genomes]
rs6109880	1.00[AMR][1000 genomes]
rs6109881	1.00[AMR][1000 genomes]
rs6109897	1.00[AMR][1000 genomes]
rs6109919	1.00[AMR][1000 genomes]
rs6109943	1.00[AMR][1000 genomes]
rs6109944	1.00[AMR][1000 genomes]
rs6109948	1.00[AMR][1000 genomes]
rs6109956	1.00[AMR][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	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13369000-13411200	Strong transcription	Dnd41	blood
4	chr20:13371400-13413600	Weak transcription	Ovary	ovary
5	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
9	chr20:13379000-13410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:13379200-13463000	Weak transcription	HSMM	muscle
11	chr20:13390800-13403000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr20:13391200-13403400	Weak transcription	Fetal Kidney	kidney
13	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
14	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:13393800-13411000	Weak transcription	Pancreas	Pancrea
16	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:13394000-13403000	Weak transcription	HMEC	breast
18	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:13394200-13399600	Weak transcription	A549	lung
20	chr20:13394200-13406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
22	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr20:13395000-13399800	Weak transcription	Hela-S3	cervix
24	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:13395400-13399400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:13395400-13411000	Weak transcription	Spleen	Spleen
27	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:13395600-13477800	Weak transcription	Gastric	stomach
29	chr20:13396000-13410600	Weak transcription	GM12878-XiMat	blood
30	chr20:13396000-13415000	Weak transcription	Brain Hippocampus Middle	brain
31	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr20:13396600-13399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr20:13396800-13399200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:13397600-13410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:13397800-13405400	Weak transcription	Fetal Lung	lung
37	chr20:13397800-13414400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr20:13397800-13415000	Weak transcription	Adipose Nuclei	Adipose
39	chr20:13398000-13400600	Weak transcription	Fetal Intestine Large	intestine
40	chr20:13398000-13403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:13398000-13407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:13398000-13410800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr20:13398000-13411000	Weak transcription	Primary B cells from cord blood	blood
44	chr20:13398200-13399000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:13398200-13399000	Weak transcription	Liver	Liver
46	chr20:13398200-13399200	Enhancers	HepG2	liver
47	chr20:13398200-13400000	Weak transcription	Brain Angular Gyrus	brain
48	chr20:13398200-13403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:13398200-13403000	Weak transcription	NHEK	skin
50	chr20:13398200-13403600	Weak transcription	H9 Cell Line	embryonic stem cell

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