Variant report

Variant	rs62067488
Chromosome Location	chr17:19967281-19967282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11204422	1.00[ASN][1000 genomes]
rs11869931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870381	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11870673	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12449914	0.93[AMR][1000 genomes]
rs12451216	0.92[ASN][1000 genomes]
rs12451841	0.98[ASN][1000 genomes]
rs12453332	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12937327	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12942179	1.00[ASN][1000 genomes]
rs12943904	0.90[AMR][1000 genomes]
rs12947713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685923	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17686798	0.88[ASN][1000 genomes]
rs17759041	0.93[AMR][1000 genomes]
rs17759609	0.91[AMR][1000 genomes]
rs17759959	0.90[ASN][1000 genomes]
rs34370440	0.98[ASN][1000 genomes]
rs34756775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35041742	0.85[ASN][1000 genomes]
rs35124809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35191778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35317166	0.95[AMR][1000 genomes]
rs35493088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35770292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35915823	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36051592	0.87[ASN][1000 genomes]
rs3862151	0.93[AMR][1000 genomes]
rs4341795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4350625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471741	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924802	0.95[AMR][1000 genomes]
rs4924808	0.92[ASN][1000 genomes]
rs4925071	0.93[AMR][1000 genomes]
rs4925074	0.93[AMR][1000 genomes]
rs4925075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925082	0.98[ASN][1000 genomes]
rs4925084	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4925088	0.84[ASN][1000 genomes]
rs56371654	0.95[AMR][1000 genomes]
rs57146223	0.80[ASN][1000 genomes]
rs7215803	1.00[ASN][1000 genomes]
rs7503407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066705	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8068484	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8074791	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8075343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888424	1.00[ASN][1000 genomes]
rs972966	0.88[ASN][1000 genomes]
rs9901125	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62067488	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19965600-19967400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:19965800-19968000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:19965800-19969200	Enhancers	Ovary	ovary
4	chr17:19966200-19967400	Weak transcription	Aorta	Aorta
5	chr17:19966200-19968200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:19966200-19968600	Flanking Active TSS	A549	lung
7	chr17:19966200-19970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:19966400-19967400	Enhancers	Adipose Nuclei	Adipose
9	chr17:19966400-19967600	Enhancers	Brain Substantia Nigra	brain
10	chr17:19966400-19968400	Enhancers	NH-A	brain
11	chr17:19966400-19968600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:19966400-19968600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr17:19966400-19968800	Enhancers	Brain Cingulate Gyrus	brain
14	chr17:19966400-19970000	Enhancers	Brain Angular Gyrus	brain
15	chr17:19966400-19970200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:19966400-19970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:19966600-19967400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:19966600-19967400	Flanking Active TSS	NHDF-Ad	bronchial
19	chr17:19966600-19967600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:19966600-19968200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr17:19966600-19968200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:19966600-19969600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:19966600-19970000	Enhancers	Colon Smooth Muscle	Colon
24	chr17:19966800-19968000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:19966800-19968000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr17:19966800-19968000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:19966800-19968000	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:19966800-19968000	Enhancers	Gastric	stomach
29	chr17:19966800-19968000	Flanking Active TSS	Hela-S3	cervix
30	chr17:19966800-19968000	Flanking Active TSS	HMEC	breast
31	chr17:19966800-19968000	Enhancers	HSMMtube	muscle
32	chr17:19966800-19968000	Flanking Active TSS	NHLF	lung
33	chr17:19966800-19968000	Flanking Active TSS	Osteobl	bone
34	chr17:19966800-19968200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr17:19966800-19968200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr17:19966800-19968200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr17:19966800-19968200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:19966800-19968200	Enhancers	Brain Germinal Matrix	brain
39	chr17:19966800-19968200	Enhancers	Spleen	Spleen
40	chr17:19966800-19968400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr17:19966800-19969800	Enhancers	Fetal Stomach	stomach
42	chr17:19967000-19967400	Enhancers	Fetal Lung	lung
43	chr17:19967000-19967600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr17:19967000-19967600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:19967000-19967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:19967000-19967800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr17:19967000-19967800	Flanking Active TSS	NHEK	skin
48	chr17:19967000-19968000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:19967000-19968000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr17:19967000-19968000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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