Variant report

Variant	rs1187804
Chromosome Location	chr1:213455824-213455825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213447316..213454346-chr1:213454663..213460102,7	K562	blood:
2	chr1:213454813..213457467-chr1:213460549..213462056,2	K562	blood:
3	chr1:213455506..213459333-chr1:213462711..213464404,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1187788	0.84[AFR][1000 genomes]
rs1187789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1187794	0.91[AFR][1000 genomes]
rs1187797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841423	0.84[AFR][1000 genomes]
rs4256785	1.00[AMR][1000 genomes]
rs4295858	1.00[AMR][1000 genomes]
rs4411110	1.00[AMR][1000 genomes]
rs7530520	1.00[AMR][1000 genomes]
rs9430119	1.00[AMR][1000 genomes]
rs971184	1.00[AFR][1000 genomes];1.00[AMR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1187804	ABP1	trans	lymphoblastoid	seeQTL
rs1187804	VWDE	trans	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213405800-213457600	Weak transcription	NHLF	lung
2	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
3	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:213440800-213457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:213440800-213465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:213443600-213457000	Weak transcription	Lung	lung
7	chr1:213444200-213457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:213447400-213457600	Weak transcription	NHDF-Ad	bronchial
9	chr1:213447800-213457000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:213447800-213457600	Weak transcription	Osteobl	bone
11	chr1:213448400-213457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:213449400-213457600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:213449400-213458200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:213449600-213457600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:213454200-213456200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:213454400-213456000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:213454400-213456600	Weak transcription	HepG2	liver
18	chr1:213454600-213456000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:213454600-213456200	Enhancers	Fetal Brain Male	brain
20	chr1:213455200-213456000	Enhancers	Brain Germinal Matrix	brain
21	chr1:213455200-213458200	Weak transcription	HSMM	muscle
22	chr1:213455400-213456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:213455400-213456000	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:213455400-213457600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:213455400-213458000	Weak transcription	Brain Cingulate Gyrus	brain

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