Variant report

Variant	rs571399
Chromosome Location	chr1:76617485-76617486
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	chr1:76596952..76598504-chr1:76616645..76619490,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12736289	0.88[ASN][1000 genomes]
rs167049	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2706183	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2783658	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs366825	0.82[CHB][hapmap]
rs434587	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486453	0.82[CHB][hapmap]
rs4949623	1.00[CHB][hapmap]

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	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
4	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:76611000-76620000	Weak transcription	Fetal Lung	lung
8	chr1:76615600-76617600	Enhancers	Left Ventricle	heart
9	chr1:76616400-76623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:76616600-76619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:76616600-76619800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:76616600-76620000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:76616600-76620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:76616600-76620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:76616800-76618400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:76616800-76619600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:76616800-76619800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:76616800-76619800	Weak transcription	Lung	lung
19	chr1:76616800-76620000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:76616800-76620000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:76616800-76620000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:76616800-76620200	Weak transcription	Esophagus	oesophagus
23	chr1:76617000-76619600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:76617000-76619800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:76617000-76619800	Weak transcription	Fetal Stomach	stomach
26	chr1:76617000-76620000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:76617200-76620000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:76617400-76618000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:76617400-76619800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:76617400-76620000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:76617400-76620000	Weak transcription	Right Atrium	heart

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