Variant report

Variant	rs2003177
Chromosome Location	chr11:87066709-87066710
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	chr11:87063292..87065568-chr11:87066607..87068698,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10792946	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898680	0.98[ASN][1000 genomes]
rs2226629	0.98[ASN][1000 genomes]
rs4545589	0.82[GIH][hapmap]
rs7125700	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2003177	DDX19B	trans	parietal	SCAN
rs2003177	PRSS23	cis	parietal	SCAN
rs2003177	RAB38	cis	parietal	SCAN
rs2003177	JTB	trans	parietal	SCAN
rs2003177	C11orf73	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87048400-87095400	Weak transcription	Aorta	Aorta
2	chr11:87063200-87068400	Enhancers	Fetal Lung	lung
3	chr11:87063600-87067200	Enhancers	Adipose Nuclei	Adipose
4	chr11:87063800-87068600	Enhancers	Fetal Muscle Leg	muscle
5	chr11:87064200-87079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:87064400-87067400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:87064400-87071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:87064600-87068200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:87064800-87069800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:87065200-87067600	Weak transcription	Colonic Mucosa	Colon
11	chr11:87065600-87066800	Weak transcription	Fetal Stomach	stomach
12	chr11:87065600-87067400	Weak transcription	Left Ventricle	heart
13	chr11:87065600-87077800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:87065800-87066800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:87065800-87066800	Enhancers	Right Atrium	heart
16	chr11:87066000-87067800	Enhancers	Ovary	ovary
17	chr11:87066200-87067400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:87066200-87067400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:87066200-87068400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:87066400-87067000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:87066400-87067400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:87066400-87067400	Weak transcription	Spleen	Spleen
23	chr11:87066400-87067600	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:87066600-87066800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:87066600-87067000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:87066600-87067200	Enhancers	Fetal Brain Male	brain
27	chr11:87066600-87067400	Enhancers	Brain Germinal Matrix	brain
28	chr11:87066600-87068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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