Variant report

Variant	rs17020381
Chromosome Location	chr1:213450378-213450379
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	chr1:213433608..213435913-chr1:213449399..213451147,2	K562	blood:
2	chr1:213447316..213454346-chr1:213454663..213460102,7	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11120091	0.80[AFR][1000 genomes]
rs11120105	0.90[AFR][1000 genomes]
rs11120109	1.00[AFR][1000 genomes]
rs12060400	0.90[AFR][1000 genomes]
rs12061530	1.00[AFR][1000 genomes]
rs12064577	0.90[AFR][1000 genomes]
rs12064974	0.90[AFR][1000 genomes]
rs12067919	0.90[AFR][1000 genomes]
rs12071832	0.90[AFR][1000 genomes]
rs12074538	0.90[AFR][1000 genomes]
rs12075302	0.90[AFR][1000 genomes]
rs12085937	1.00[AFR][1000 genomes]
rs12086415	0.90[AFR][1000 genomes]
rs12086986	0.90[AFR][1000 genomes]
rs12089456	1.00[AFR][1000 genomes]
rs17020280	0.90[AFR][1000 genomes]
rs17020291	0.90[AFR][1000 genomes]
rs17020352	1.00[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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:213405800-213457600	Weak transcription	NHLF	lung
5	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
7	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
10	chr1:213427000-213451400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:213431200-213450600	Weak transcription	Psoas Muscle	Psoas
12	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:213434600-213453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:213434600-213453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
18	chr1:213440000-213451400	Weak transcription	NH-A	brain
19	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:213440400-213450800	Weak transcription	Fetal Stomach	stomach
21	chr1:213440600-213452400	Weak transcription	Aorta	Aorta
22	chr1:213440600-213454200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:213440600-213454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:213440600-213454800	Weak transcription	Left Ventricle	heart
25	chr1:213440800-213450800	Weak transcription	Fetal Intestine Small	intestine
26	chr1:213440800-213451000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:213440800-213457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:213440800-213465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:213441000-213454600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:213443600-213452200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:213443600-213457000	Weak transcription	Lung	lung
32	chr1:213444000-213454800	Weak transcription	Fetal Brain Female	brain
33	chr1:213444000-213455000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:213444200-213457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:213445600-213454400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:213447200-213454400	Enhancers	HepG2	liver
37	chr1:213447400-213457600	Weak transcription	NHDF-Ad	bronchial
38	chr1:213447800-213451200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:213447800-213452200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:213447800-213454400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:213447800-213454600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:213447800-213457000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:213447800-213457600	Weak transcription	Osteobl	bone
44	chr1:213448000-213450600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:213448000-213450800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:213448000-213453000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:213448400-213451600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:213448400-213454800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:213448400-213457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:213448800-213453200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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