Variant report

Variant	rs17755005
Chromosome Location	chr4:88092130-88092131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88091038..88092796-chr4:88094355..88096189,2	K562	blood:
2	chr4:88090535..88092796-chr4:88094689..88097042,2	K562	blood:
3	chr4:88090797..88093455-chr4:88106518..88109486,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10001721	0.88[ASN][1000 genomes]
rs10015288	0.88[ASN][1000 genomes]
rs1005808	0.88[ASN][1000 genomes]
rs12505327	0.88[ASN][1000 genomes]
rs12505408	0.88[ASN][1000 genomes]
rs12505448	0.85[ASN][1000 genomes]
rs12509389	0.88[ASN][1000 genomes]
rs12509445	0.88[ASN][1000 genomes]
rs12640151	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12645763	0.88[ASN][1000 genomes]
rs12646299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649293	0.85[CEU][hapmap]
rs13103234	1.00[YRI][hapmap]
rs1552145	0.85[ASN][1000 genomes]
rs1563799	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17703743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17754784	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17754933	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28513782	0.88[ASN][1000 genomes]
rs4355355	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4693158	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693804	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4693806	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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61734704	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62306545	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62306548	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62308861	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308864	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62308866	0.89[ASN][1000 genomes]
rs71607411	0.86[ASN][1000 genomes]
rs7698284	0.85[CEU][hapmap]
rs7698923	0.85[CEU][hapmap]
rs967552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17755005	HELQ	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:88058200-88109000	Weak transcription	Lung	lung
3	chr4:88058800-88092200	Weak transcription	Colonic Mucosa	Colon
4	chr4:88059200-88100800	Weak transcription	Osteobl	bone
5	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
7	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
11	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:88066200-88101000	Weak transcription	HMEC	breast
13	chr4:88066800-88093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:88067600-88096800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:88068000-88116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:88073400-88093400	Weak transcription	Fetal Kidney	kidney
17	chr4:88073400-88098200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:88073400-88113000	Weak transcription	NHDF-Ad	bronchial
19	chr4:88074000-88100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:88074200-88109400	Weak transcription	Pancreas	Pancrea
21	chr4:88074400-88100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:88075400-88097800	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:88077200-88111000	Weak transcription	Fetal Brain Male	brain
24	chr4:88077800-88099800	Weak transcription	Psoas Muscle	Psoas
25	chr4:88080400-88093600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:88080600-88098600	Weak transcription	NH-A	brain
27	chr4:88080600-88101800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:88081400-88096400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:88081600-88092400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
31	chr4:88082000-88111000	Weak transcription	Brain Germinal Matrix	brain
32	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
33	chr4:88082600-88120000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:88082800-88106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:88083000-88116400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:88083800-88099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:88084800-88099200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:88084800-88113600	Weak transcription	HSMM	muscle
39	chr4:88085000-88099200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:88085000-88100400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:88085000-88128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:88085200-88098200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:88085200-88100200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:88085800-88098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:88086400-88100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:88086400-88102600	Weak transcription	HSMMtube	muscle
47	chr4:88086600-88109400	Weak transcription	NHLF	lung
48	chr4:88086800-88093600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr4:88088000-88092200	Strong transcription	Fetal Intestine Large	intestine
50	chr4:88088000-88093000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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