Variant report

Variant	rs935985
Chromosome Location	chr11:73638306-73638307
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	chr11:73629846..73633013-chr11:73635127..73638678,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10160362	0.96[ASN][1000 genomes]
rs10437752	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11220	0.84[MEX][hapmap]
rs1122373	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11235909	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs11235919	0.82[ASN][1000 genomes]
rs11235940	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs11235948	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11235956	0.85[ASN][1000 genomes]
rs12269892	0.91[CHB][hapmap]
rs12280222	1.00[CHB][hapmap]
rs12284235	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12284670	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12287418	0.84[ASN][1000 genomes]
rs12291665	0.85[ASN][1000 genomes]
rs12294934	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12295206	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12420040	0.86[ASN][1000 genomes]
rs12421959	0.96[ASN][1000 genomes]
rs1670539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132368	0.86[CHB][hapmap]
rs17132495	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.98[ASN][1000 genomes]
rs1792199	0.84[MEX][hapmap]
rs2010583	1.00[CHB][hapmap]
rs2067913	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3019464	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3741138	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs3741139	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs3926010	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637028	0.93[CHD][hapmap]
rs7119602	1.00[CHB][hapmap]
rs73549968	0.84[ASN][1000 genomes]
rs935988	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs935985	OMP	cis	parietal	SCAN
rs935985	C11orf59	cis	parietal	SCAN
rs935985	UVRAG	cis	parietal	SCAN
rs935985	SERPINH1	cis	parietal	SCAN
rs935985	MRPL48	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
3	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:73613000-73640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:73615400-73640800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:73615800-73641400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:73618400-73641600	Strong transcription	Placenta	Placenta
10	chr11:73618800-73638800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73619600-73639800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:73620200-73640800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:73620200-73641400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:73620400-73641000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:73625200-73647200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73625600-73646400	Strong transcription	Liver	Liver
17	chr11:73626200-73638400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:73626600-73647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:73627600-73641400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:73628000-73646200	Strong transcription	Fetal Intestine Small	intestine
21	chr11:73628800-73646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:73629400-73640800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:73630800-73638400	Weak transcription	Colonic Mucosa	Colon
24	chr11:73630800-73638400	Weak transcription	Gastric	stomach
25	chr11:73630800-73642200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:73631000-73638400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:73631000-73638400	Weak transcription	K562	blood
28	chr11:73631000-73638800	Weak transcription	Hela-S3	cervix
29	chr11:73631000-73647200	Weak transcription	Psoas Muscle	Psoas
30	chr11:73631200-73638600	Weak transcription	NHDF-Ad	bronchial
31	chr11:73632000-73640800	Strong transcription	Adipose Nuclei	Adipose
32	chr11:73632600-73640800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:73633200-73642200	Weak transcription	Brain Angular Gyrus	brain
34	chr11:73633200-73652400	Weak transcription	Small Intestine	intestine
35	chr11:73634000-73640800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:73634400-73643800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:73634600-73640800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:73634600-73641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:73634600-73645600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:73635000-73640800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73635000-73640800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:73635000-73641000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:73635000-73641000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:73635000-73643600	Strong transcription	Fetal Stomach	stomach
45	chr11:73635000-73644000	Strong transcription	Fetal Intestine Large	intestine
46	chr11:73635000-73646400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:73635200-73639400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:73635400-73641000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:73635400-73642800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:73635600-73639400	Strong transcription	Fetal Lung	lung

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