Variant report

Variant	rs3827704
Chromosome Location	chr20:13376265-13376266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4813127	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6042169	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042224	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
4	chr20:13364000-13377400	Weak transcription	Brain Angular Gyrus	brain
5	chr20:13364400-13376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
7	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr20:13364800-13377600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr20:13367200-13378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:13368000-13376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr20:13368600-13376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:13368600-13378400	Weak transcription	GM12878-XiMat	blood
14	chr20:13368600-13382400	Weak transcription	HMEC	breast
15	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr20:13368800-13376400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
18	chr20:13369000-13411200	Strong transcription	Dnd41	blood
19	chr20:13369400-13377400	Weak transcription	Colon Smooth Muscle	Colon
20	chr20:13369400-13377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr20:13369400-13380200	Weak transcription	Psoas Muscle	Psoas
22	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
23	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
25	chr20:13370000-13378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr20:13370000-13382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:13371400-13413600	Weak transcription	Ovary	ovary
28	chr20:13371800-13397200	Weak transcription	Primary T cells from cord blood	blood
29	chr20:13372000-13382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:13372000-13395800	Weak transcription	HepG2	liver
31	chr20:13372000-13396400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr20:13372000-13397400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr20:13372000-13397400	Weak transcription	Left Ventricle	heart
34	chr20:13372000-13397400	Weak transcription	Thymus	Thymus
35	chr20:13372200-13381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr20:13373200-13376600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr20:13374200-13380600	Weak transcription	Spleen	Spleen
38	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr20:13374400-13380400	Weak transcription	Fetal Lung	lung
40	chr20:13374400-13382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:13374400-13382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr20:13374400-13384000	Weak transcription	Pancreas	Pancrea
43	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr20:13374600-13397400	Weak transcription	Fetal Intestine Small	intestine
45	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
47	chr20:13375800-13377600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr20:13375800-13378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:13375800-13379200	Enhancers	HSMM	muscle
50	chr20:13375800-13379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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