Variant report

Variant	rs17064257
Chromosome Location	chr13:75940396-75940397
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	chr13:75936738..75942482-chr13:75944415..75947523,6	K562	blood:

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

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

rs_ID	r²[population]
rs17064319	1.00[AMR][1000 genomes]
rs17064366	1.00[AMR][1000 genomes]
rs17064411	1.00[AMR][1000 genomes]
rs17064467	1.00[AMR][1000 genomes]
rs17064473	1.00[AMR][1000 genomes]
rs17071230	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75902600-75947000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:75912000-75940800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:75928000-75941800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:75932400-75944400	Weak transcription	Spleen	Spleen
7	chr13:75933000-75943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:75934800-75947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:75936600-75942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:75936600-75942600	Weak transcription	Fetal Stomach	stomach
11	chr13:75936600-75942800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:75936600-75943000	Weak transcription	Ovary	ovary
13	chr13:75936600-75947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:75936600-75947600	Weak transcription	Lung	lung
15	chr13:75937000-75940600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:75937000-75941400	Enhancers	HMEC	breast
17	chr13:75937200-75940600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:75937200-75945600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:75937600-75940600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:75937800-75945800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:75938400-75940600	Flanking Active TSS	HUVEC	blood vessel
22	chr13:75938400-75940800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:75938400-75941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:75938600-75941000	Weak transcription	Fetal Intestine Small	intestine
25	chr13:75938800-75940400	Weak transcription	HepG2	liver
26	chr13:75939000-75940800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr13:75939200-75941200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:75939200-75943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:75939400-75940400	Flanking Active TSS	NHLF	lung
30	chr13:75939400-75940800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr13:75939400-75940800	Flanking Active TSS	GM12878-XiMat	blood
32	chr13:75939400-75943000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:75939600-75940600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr13:75939600-75940800	Enhancers	Hela-S3	cervix
35	chr13:75939600-75941000	Enhancers	Adipose Nuclei	Adipose
36	chr13:75939600-75942400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:75939800-75940600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr13:75939800-75940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:75939800-75940600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr13:75939800-75940600	Flanking Active TSS	Osteobl	bone
41	chr13:75939800-75940800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:75940000-75940400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:75940000-75940400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr13:75940000-75940400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:75940000-75940400	Enhancers	Fetal Muscle Leg	muscle
46	chr13:75940000-75940400	Enhancers	Small Intestine	intestine
47	chr13:75940000-75940400	Flanking Active TSS	HSMM	muscle
48	chr13:75940000-75940600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:75940000-75940600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:75940000-75940600	Flanking Active TSS	NHEK	skin

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