Variant report

Variant	rs17035050
Chromosome Location	chr2:46584090-46584091
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	chr2:46583354..46585479-chr2:46594871..46597151,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10189575	1.00[AMR][1000 genomes]
rs17035035	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035175	1.00[AMR][1000 genomes]
rs72887408	1.00[AMR][1000 genomes]
rs9973625	1.00[AMR][1000 genomes]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46567400-46584600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:46570200-46584800	Weak transcription	Small Intestine	intestine
4	chr2:46572000-46584600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:46572600-46590600	Strong transcription	NHEK	skin
6	chr2:46573200-46584200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
8	chr2:46573800-46591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:46574000-46586200	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:46574000-46589200	Strong transcription	Osteobl	bone
11	chr2:46574000-46589600	Strong transcription	A549	lung
12	chr2:46574200-46589600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:46574200-46590600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr2:46574400-46587400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:46574400-46590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:46574800-46613000	Weak transcription	HSMM	muscle
18	chr2:46575600-46584400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:46576600-46585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:46578400-46585600	Genic enhancers	Left Ventricle	heart
21	chr2:46578600-46590400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:46578800-46590800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:46579000-46585600	Strong transcription	Fetal Intestine Small	intestine
24	chr2:46579400-46588000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:46579600-46585400	Enhancers	Fetal Thymus	thymus
26	chr2:46579600-46587800	Weak transcription	Fetal Lung	lung
27	chr2:46580000-46587800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:46580000-46588600	Strong transcription	NHLF	lung
29	chr2:46580000-46589000	Strong transcription	Liver	Liver
30	chr2:46580000-46594600	Weak transcription	Psoas Muscle	Psoas
31	chr2:46580200-46585200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:46580200-46585600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:46580200-46588600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:46580400-46589600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:46580600-46585600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:46580600-46589200	Weak transcription	Dnd41	blood
37	chr2:46580600-46589600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:46580600-46597200	Weak transcription	Fetal Heart	heart
39	chr2:46580800-46589800	Strong transcription	HUVEC	blood vessel
40	chr2:46581000-46586200	Genic enhancers	Right Ventricle	heart
41	chr2:46581000-46588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:46581000-46589200	Strong transcription	Adipose Nuclei	Adipose
43	chr2:46581000-46589800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:46581200-46597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:46581400-46584200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:46581400-46589000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:46581800-46589400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:46581800-46589600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:46582400-46584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:46582800-46585000	Strong transcription	Pancreas	Pancrea

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