Variant report

Variant	rs55712021
Chromosome Location	chr1:157989270-157989271
allele	G/T
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	chr1:157984297..157985914-chr1:157988656..157990593,2	MCF-7	breast:
4	chr1:157984151..157985923-chr1:157986996..157989537,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10430456	0.82[EUR][1000 genomes]
rs11264874	0.95[ASN][1000 genomes]
rs12021619	0.94[EUR][1000 genomes]
rs12037357	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039337	0.96[EUR][1000 genomes]
rs12118340	0.82[EUR][1000 genomes]
rs16839617	0.94[EUR][1000 genomes]
rs16839627	0.86[EUR][1000 genomes]
rs16839630	0.86[EUR][1000 genomes]
rs16839636	0.86[EUR][1000 genomes]
rs1925038	0.95[ASN][1000 genomes]
rs1980765	0.82[EUR][1000 genomes]
rs4445460	0.95[ASN][1000 genomes]
rs4971174	0.97[ASN][1000 genomes]
rs5018263	0.95[ASN][1000 genomes]
rs59269620	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427415	0.92[ASN][1000 genomes]
rs6666443	0.95[ASN][1000 genomes]
rs6680191	0.95[ASN][1000 genomes]
rs7414379	0.95[ASN][1000 genomes]
rs7527064	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7537784	1.00[ASN][1000 genomes]
rs7554764	0.95[ASN][1000 genomes]
rs7555783	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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:89 , 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	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
5	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
6	chr1:157985000-157989800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
10	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:157986000-157993200	Enhancers	Placenta	Placenta
14	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:157986400-157989600	Enhancers	Aorta	Aorta
16	chr1:157986400-157990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:157986400-157993000	Enhancers	Ovary	ovary
18	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
19	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:157986600-157990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:157986800-157989600	Enhancers	HMEC	breast
22	chr1:157987000-157990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:157987000-157991000	Weak transcription	Small Intestine	intestine
24	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
25	chr1:157987200-157989600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:157987200-157989600	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:157987400-157990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:157987400-157990200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:157987400-157990400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:157987600-157989400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:157987600-157989600	Enhancers	HSMMtube	muscle
33	chr1:157987600-157990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:157987600-157991200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:157987600-157993000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:157987800-157990600	Flanking Active TSS	A549	lung
37	chr1:157987800-157991200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:157987800-157991400	Enhancers	Fetal Heart	heart
39	chr1:157987800-157993000	Enhancers	Colon Smooth Muscle	Colon
40	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:157988000-157989600	Enhancers	Left Ventricle	heart
42	chr1:157988000-157990000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:157988000-157990200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:157988000-157990200	Enhancers	Lung	lung
45	chr1:157988000-157990200	Enhancers	Right Atrium	heart
46	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:157988200-157989400	Enhancers	Right Ventricle	heart
48	chr1:157988200-157990200	Enhancers	Stomach Mucosa	stomach
49	chr1:157988200-157991400	Enhancers	Fetal Intestine Large	intestine
50	chr1:157988200-157991400	Enhancers	Fetal Intestine Small	intestine

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