Variant report

Variant	rs927700
Chromosome Location	chr1:157988119-157988120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11264876	0.83[EUR][1000 genomes]
rs17418566	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17452391	0.88[EUR][1000 genomes]
rs17453287	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1925037	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4971176	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs6671484	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912645	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912646	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912647	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs927701	0.99[AFR][1000 genomes]
rs927702	1.00[YRI][hapmap];0.99[AFR][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:87 , 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	chr1:157981600-157988200	Weak transcription	Right Ventricle	heart
4	chr1:157982200-157988200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:157982200-157989200	Enhancers	Osteobl	bone
6	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:157983200-157989000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:157983400-157989200	Enhancers	Adipose Nuclei	Adipose
9	chr1:157983600-157989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
11	chr1:157984000-157989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:157984200-157988200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:157984400-157989200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
15	chr1:157985000-157989800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:157985200-157988200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:157985200-157989200	Weak transcription	Fetal Brain Male	brain
18	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
21	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:157985600-157988400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:157986000-157988600	Enhancers	NH-A	brain
25	chr1:157986000-157989000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:157986000-157989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:157986000-157993200	Enhancers	Placenta	Placenta
29	chr1:157986200-157988600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:157986200-157988800	Enhancers	Hela-S3	cervix
31	chr1:157986200-157989200	Enhancers	HUVEC	blood vessel
32	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:157986400-157989000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:157986400-157989600	Enhancers	Aorta	Aorta
35	chr1:157986400-157990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:157986400-157993000	Enhancers	Ovary	ovary
37	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
38	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
39	chr1:157986600-157988400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:157986600-157988400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:157986600-157988800	Enhancers	NHDF-Ad	bronchial
42	chr1:157986600-157990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:157986800-157988800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:157986800-157989600	Enhancers	HMEC	breast
45	chr1:157987000-157988200	Enhancers	NHEK	skin
46	chr1:157987000-157988800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:157987000-157988800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:157987000-157988800	Enhancers	NHLF	lung
49	chr1:157987000-157990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:157987000-157991000	Weak transcription	Small Intestine	intestine

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