Variant report

Variant	rs333140
Chromosome Location	chr1:61685182-61685183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61672323..61674145-chr1:61683601..61686082,2	K562	blood:
2	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11207719	0.85[EUR][1000 genomes]
rs162878	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs167987	0.82[AMR][1000 genomes]
rs1977653	0.86[EUR][1000 genomes]
rs2275208	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs333136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333137	0.99[ASN][1000 genomes]
rs333138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333141	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333143	0.99[ASN][1000 genomes]
rs333144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333146	0.99[ASN][1000 genomes]
rs333147	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333148	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333150	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs333160	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333161	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs333162	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs333164	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs333165	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs333166	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs334690	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4244151	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6684051	0.85[EUR][1000 genomes]
rs72664877	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72664888	0.89[EUR][1000 genomes]
rs72664890	0.89[EUR][1000 genomes]
rs72664891	0.89[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	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61669200-61685800	Weak transcription	Fetal Brain Female	brain
2	chr1:61669200-61692400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:61669400-61691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:61669600-61685800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:61669600-61686000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:61669600-61692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:61674200-61686200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:61676600-61685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:61676600-61690000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:61677600-61692400	Weak transcription	Esophagus	oesophagus
11	chr1:61677800-61685600	Weak transcription	Fetal Stomach	stomach
12	chr1:61679200-61692200	Weak transcription	NHEK	skin
13	chr1:61679600-61685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:61679800-61687400	Weak transcription	Fetal Brain Male	brain
15	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:61680800-61687400	Weak transcription	A549	lung
17	chr1:61681800-61686000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:61682000-61686200	Weak transcription	Brain Anterior Caudate	brain
19	chr1:61682000-61687400	Weak transcription	Fetal Lung	lung
20	chr1:61682000-61690200	Weak transcription	Ovary	ovary
21	chr1:61682000-61692400	Weak transcription	Left Ventricle	heart
22	chr1:61682000-61706800	Weak transcription	Gastric	stomach
23	chr1:61682200-61686000	Weak transcription	HepG2	liver
24	chr1:61682200-61691800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:61683600-61687200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:61683800-61685800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:61683800-61686200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:61683800-61692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:61684000-61685600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:61684000-61685800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:61684000-61687400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:61684000-61690000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:61684200-61685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:61684200-61685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:61684200-61686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:61684200-61690200	Weak transcription	Psoas Muscle	Psoas
37	chr1:61684400-61692400	Weak transcription	K562	blood
38	chr1:61685000-61687200	Weak transcription	Liver	Liver
39	chr1:61685000-61688600	Enhancers	Cortex derived primary cultured neurospheres	brain

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