Variant report

Variant	rs11686919
Chromosome Location	chr2:20454431-20454432
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	chr2:20450501..20452950-chr2:20453500..20455085,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10175853	0.80[JPT][hapmap]
rs10190763	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10192042	0.80[JPT][hapmap]
rs1043400	0.80[JPT][hapmap]
rs11096655	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679966	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683916	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888357	0.80[JPT][hapmap]
rs11895228	0.82[JPT][hapmap]
rs11896241	0.80[JPT][hapmap]
rs2110409	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2160072	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs2348704	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs343163	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs343164	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs343165	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3771228	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3796066	0.80[JPT][hapmap]
rs3821218	0.80[JPT][hapmap]
rs4666299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666304	0.85[EUR][1000 genomes]
rs4666305	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4666382	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4666383	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531232	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6713329	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6730690	0.81[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap]
rs6748274	0.80[JPT][hapmap]
rs6750331	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756819	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7355288	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563245	0.80[JPT][hapmap]
rs7596797	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306890	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11686919	HS1BP3	cis	parietal	SCAN
rs11686919	WDR35	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20442800-20455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:20444200-20457200	Strong transcription	A549	lung
6	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
7	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
9	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:20446000-20464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:20446200-20456000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr2:20446200-20456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:20446200-20459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20446200-20463400	Strong transcription	Liver	Liver
21	chr2:20446200-20464600	Strong transcription	Placenta	Placenta
22	chr2:20446400-20456400	Strong transcription	NHDF-Ad	bronchial
23	chr2:20446400-20463400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:20446400-20463400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:20446400-20463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:20446400-20473600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:20446600-20457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:20446600-20460400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:20446600-20463600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:20446800-20456600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:20446800-20463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:20446800-20463600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:20446800-20465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:20447000-20455800	Strong transcription	Colonic Mucosa	Colon
35	chr2:20447000-20456000	Strong transcription	Adipose Nuclei	Adipose
36	chr2:20447000-20456000	Strong transcription	HUVEC	blood vessel
37	chr2:20447000-20456600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:20447000-20456600	Strong transcription	GM12878-XiMat	blood
39	chr2:20447000-20462400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:20447000-20463400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:20447000-20463600	Strong transcription	NH-A	brain
42	chr2:20447000-20463600	Strong transcription	Osteobl	bone
43	chr2:20447000-20464000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:20447000-20464600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:20447000-20465800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:20447000-20468600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:20447000-20470200	Strong transcription	Dnd41	blood
48	chr2:20447200-20456400	Strong transcription	Primary B cells from cord blood	blood
49	chr2:20447200-20456600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:20447200-20463200	Strong transcription	HSMM	muscle

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