Variant report

Variant	rs17418759
Chromosome Location	chr1:157988652-157988653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:157980406..157983368-chr1:157988556..157991541,2	K562	blood:
2	chr1:157987648..157990014-chr1:158000833..158002495,2	MCF-7	breast:
3	chr1:157984151..157985923-chr1:157986996..157989537,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10796988	1.00[CEU][hapmap]
rs2224932	1.00[CEU][hapmap]
rs4971173	1.00[EUR][1000 genomes]
rs73018972	1.00[EUR][1000 genomes]
rs7514059	1.00[EUR][1000 genomes]
rs7521855	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7527643	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549283	1.00[CEU][hapmap]
rs9628667	1.00[CEU][hapmap];1.00[EUR][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157979800-157991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:157982200-157989200	Enhancers	Osteobl	bone
4	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:157983200-157989000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:157983400-157989200	Enhancers	Adipose Nuclei	Adipose
7	chr1:157983600-157989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
9	chr1:157984000-157989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:157984400-157989200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
12	chr1:157985000-157989800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:157985200-157989200	Weak transcription	Fetal Brain Male	brain
14	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
17	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:157986000-157989000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:157986000-157989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:157986000-157993200	Enhancers	Placenta	Placenta
23	chr1:157986200-157988800	Enhancers	Hela-S3	cervix
24	chr1:157986200-157989200	Enhancers	HUVEC	blood vessel
25	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:157986400-157989000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:157986400-157989600	Enhancers	Aorta	Aorta
28	chr1:157986400-157990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:157986400-157993000	Enhancers	Ovary	ovary
30	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
31	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
32	chr1:157986600-157988800	Enhancers	NHDF-Ad	bronchial
33	chr1:157986600-157990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:157986800-157988800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:157986800-157989600	Enhancers	HMEC	breast
36	chr1:157987000-157988800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:157987000-157988800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:157987000-157988800	Enhancers	NHLF	lung
39	chr1:157987000-157990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:157987000-157991000	Weak transcription	Small Intestine	intestine
41	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
42	chr1:157987200-157989600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:157987200-157989600	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:157987400-157990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:157987400-157990200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:157987400-157990400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:157987600-157988800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:157987600-157989000	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:157987600-157989200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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