Variant report

Variant	rs12937327
Chromosome Location	chr17:19978984-19978985
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	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:
2	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10083830	1.00[ASN][1000 genomes]
rs10083840	1.00[ASN][1000 genomes]
rs1009082	1.00[CHB][hapmap]
rs10438824	1.00[CHB][hapmap]
rs11869931	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12449914	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450857	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12453332	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12453720	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12941200	0.82[AMR][1000 genomes]
rs12943904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12946508	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12947713	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12947950	1.00[CHB][hapmap]
rs12948178	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12949485	1.00[CHB][hapmap]
rs12949710	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1468953	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1544421	1.00[CHB][hapmap]
rs1638527	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs1638528	0.82[CEU][hapmap]
rs17604987	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17685923	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17686622	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs17686839	1.00[CHB][hapmap]
rs17759041	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17759083	1.00[ASN][1000 genomes]
rs17759609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812934	1.00[CHB][hapmap]
rs2013576	1.00[CHB][hapmap]
rs203467	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs203475	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs203478	0.84[CEU][hapmap]
rs203480	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2107566	1.00[CHB][hapmap]
rs2108981	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2158473	1.00[CHB][hapmap]
rs2189710	1.00[CHB][hapmap]
rs2263175	1.00[CHB][hapmap]
rs2386485	1.00[CHB][hapmap]
rs2526460	1.00[CHB][hapmap]
rs2526462	1.00[CHB][hapmap]
rs2526467	1.00[CHB][hapmap]
rs2526468	1.00[CHB][hapmap]
rs2526469	1.00[CHB][hapmap]
rs2526471	1.00[CHB][hapmap]
rs2526474	1.00[CHB][hapmap]
rs2526475	1.00[CHB][hapmap]
rs2526480	1.00[CHB][hapmap]
rs2526484	1.00[CHB][hapmap]
rs2526491	1.00[CHB][hapmap]
rs2703772	1.00[CHB][hapmap]
rs2703773	1.00[CHB][hapmap]
rs2703774	1.00[CHB][hapmap]
rs2703782	1.00[CHB][hapmap]
rs2703790	1.00[CHB][hapmap]
rs2703791	1.00[CHB][hapmap]
rs2703792	1.00[CHB][hapmap]
rs2703794	1.00[CHB][hapmap]
rs2703799	1.00[CHB][hapmap]
rs2703801	1.00[CHB][hapmap]
rs2703802	1.00[CHB][hapmap]
rs2703804	1.00[CHB][hapmap]
rs2703806	1.00[CHB][hapmap]
rs2703808	1.00[CHB][hapmap]
rs2703813	1.00[CHB][hapmap]
rs2703815	1.00[CHB][hapmap]
rs2703816	1.00[CHB][hapmap]
rs2703817	1.00[CHB][hapmap]
rs2703818	1.00[CHB][hapmap]
rs2703821	1.00[CHB][hapmap]
rs34089239	1.00[CHB][hapmap]
rs34756775	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35124809	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35156798	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35191778	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35244101	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35317166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35493088	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35770292	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35915823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862151	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341795	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4346259	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4350625	0.95[AMR][1000 genomes]
rs4471741	0.94[AMR][1000 genomes]
rs4577147	0.83[AMR][1000 genomes]
rs4588033	1.00[CHB][hapmap]
rs4924802	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924809	1.00[CHB][hapmap]
rs4924810	1.00[CHB][hapmap]
rs4925054	1.00[CHB][hapmap]
rs4925071	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925074	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925075	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4925076	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4925078	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4925084	1.00[CHB][hapmap];0.93[AMR][1000 genomes]
rs56371654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62067482	0.83[AMR][1000 genomes]
rs62067483	0.83[AMR][1000 genomes]
rs62067488	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7209653	0.87[CEU][hapmap]
rs7503407	0.95[AMR][1000 genomes]
rs8068484	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8075343	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8079923	0.83[CEU][hapmap]
rs8080827	1.00[CHB][hapmap]
rs8081817	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs850622	0.83[CEU][hapmap]
rs9897328	1.00[CHB][hapmap]
rs9901294	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv2762522	chr17:19976462-19996429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12937327	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19976200-19988000	Weak transcription	Gastric	stomach
2	chr17:19976200-19989400	Weak transcription	Lung	lung
3	chr17:19976800-19979000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:19977200-19979800	Weak transcription	A549	lung
5	chr17:19977600-19989600	Weak transcription	K562	blood
6	chr17:19977800-19979000	Enhancers	Primary B cells from cord blood	blood
7	chr17:19977800-19980000	Weak transcription	Osteobl	bone
8	chr17:19977800-19980200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:19977800-19980200	Weak transcription	NHLF	lung
10	chr17:19977800-19983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:19978000-19979800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:19978000-19980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:19978000-19980000	Weak transcription	Brain Anterior Caudate	brain
14	chr17:19978000-19980000	Weak transcription	NHDF-Ad	bronchial
15	chr17:19978000-19984000	Weak transcription	Brain Angular Gyrus	brain
16	chr17:19978000-19988200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:19978200-19979000	Weak transcription	Brain Substantia Nigra	brain
18	chr17:19978200-19979000	Weak transcription	Left Ventricle	heart
19	chr17:19978200-19979200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr17:19978200-19979800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:19978200-19979800	Active TSS	GM12878-XiMat	blood
22	chr17:19978200-19980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:19978200-19980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:19978200-19980000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:19978200-19980200	Enhancers	Primary hematopoietic stem cells	blood
26	chr17:19978200-19980600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr17:19978400-19979800	Enhancers	Aorta	Aorta
28	chr17:19978400-19980000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:19978400-19980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:19978400-19981800	Weak transcription	Primary T cells from cord blood	blood
31	chr17:19978600-19979800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:19978800-19979000	Enhancers	Brain Hippocampus Middle	brain
33	chr17:19978800-19979600	Weak transcription	Ovary	ovary
34	chr17:19978800-19980000	Enhancers	Adipose Nuclei	Adipose
35	chr17:19978800-19980800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr17:19978800-20000000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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