Variant report

Variant	rs12524323
Chromosome Location	chr6:45303853-45303854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45302590..45306713-chr6:45309297..45313421,5	K562	blood:
2	chr6:45301898..45307330-chr6:45307475..45313805,9	K562	blood:
3	chr6:45294783..45298304-chr6:45298765..45304802,5	K562	blood:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 215 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:212)

rs_ID	r²[population]
rs10456122	1.00[JPT][hapmap]
rs10456542	1.00[JPT][hapmap]
rs10456543	1.00[JPT][hapmap]
rs10456549	1.00[JPT][hapmap]
rs10456552	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1080415	0.88[ASN][1000 genomes]
rs10807318	0.84[ASN][1000 genomes]
rs10807319	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10807320	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10807321	1.00[JPT][hapmap]
rs10948212	1.00[JPT][hapmap]
rs10948213	1.00[JPT][hapmap]
rs10948214	1.00[JPT][hapmap]
rs10948220	1.00[JPT][hapmap]
rs10948222	0.93[ASN][1000 genomes]
rs10948223	1.00[JPT][hapmap]
rs10948225	0.86[ASN][1000 genomes]
rs10948226	1.00[JPT][hapmap]
rs10948227	0.86[ASN][1000 genomes]
rs10948228	0.86[ASN][1000 genomes]
rs10948229	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10948230	0.86[ASN][1000 genomes]
rs10948233	1.00[JPT][hapmap]
rs11963924	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11964690	1.00[JPT][hapmap]
rs11965706	1.00[JPT][hapmap]
rs11966878	1.00[JPT][hapmap]
rs12153922	1.00[CHB][hapmap]
rs12191262	1.00[JPT][hapmap]
rs12191566	1.00[JPT][hapmap]
rs12191751	1.00[JPT][hapmap]
rs12192890	1.00[JPT][hapmap]
rs12193030	1.00[JPT][hapmap]
rs12193812	1.00[JPT][hapmap]
rs12194311	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12194628	1.00[JPT][hapmap]
rs12199256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12199720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12199871	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12201555	1.00[JPT][hapmap]
rs12201899	1.00[JPT][hapmap]
rs12203466	1.00[JPT][hapmap]
rs12205274	0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12205312	0.95[ASN][1000 genomes]
rs12205523	1.00[JPT][hapmap]
rs12205860	1.00[JPT][hapmap]
rs12206561	1.00[JPT][hapmap]
rs12206568	1.00[JPT][hapmap]
rs12208924	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12209161	1.00[JPT][hapmap]
rs12209727	0.82[AMR][1000 genomes]
rs12211519	1.00[JPT][hapmap]
rs12212745	1.00[JPT][hapmap]
rs12213735	1.00[JPT][hapmap]
rs12214749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12216308	1.00[JPT][hapmap]
rs12524270	0.86[ASN][1000 genomes]
rs12525603	0.86[ASN][1000 genomes]
rs12526462	0.86[ASN][1000 genomes]
rs12526484	0.86[ASN][1000 genomes]
rs12527586	0.86[ASN][1000 genomes]
rs12529295	0.86[ASN][1000 genomes]
rs12529907	0.80[ASN][1000 genomes]
rs12529946	0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12660412	0.80[ASN][1000 genomes]
rs12662664	0.86[ASN][1000 genomes]
rs12662685	0.86[ASN][1000 genomes]
rs12663469	0.85[ASN][1000 genomes]
rs1284961	0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1284965	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1284969	0.84[YRI][hapmap]
rs1285013	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1285014	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1285019	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1285022	0.80[ASN][1000 genomes]
rs1285023	0.80[ASN][1000 genomes]
rs1285026	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1290386	0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1304168	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1321078	1.00[JPT][hapmap]
rs1321079	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1321080	1.00[JPT][hapmap]
rs1324540	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1406848	0.85[ASN][1000 genomes]
rs1581777	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873345	0.84[ASN][1000 genomes]
rs16873348	0.86[ASN][1000 genomes]
rs16873364	0.86[ASN][1000 genomes]
rs16873366	0.86[ASN][1000 genomes]
rs16873373	0.86[ASN][1000 genomes]
rs16873379	0.86[ASN][1000 genomes]
rs17209636	1.00[JPT][hapmap]
rs17209678	1.00[JPT][hapmap]
rs17209741	1.00[JPT][hapmap]
rs17209769	1.00[JPT][hapmap]
rs17288250	1.00[JPT][hapmap]
rs17288257	1.00[JPT][hapmap]
rs17288278	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17288320	1.00[JPT][hapmap]
rs17288327	1.00[JPT][hapmap]
rs17288334	0.84[AMR][1000 genomes]
rs1748231	0.81[AMR][1000 genomes]
rs1748234	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs1748235	0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs1748242	0.84[YRI][hapmap]
rs1797145	0.89[YRI][hapmap]
rs1852985	0.86[ASN][1000 genomes]
rs1852986	0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2024786	0.86[ASN][1000 genomes]
rs2024787	0.86[ASN][1000 genomes]
rs2093900	1.00[JPT][hapmap]
rs2093901	0.85[ASN][1000 genomes]
rs2093903	0.85[ASN][1000 genomes]
rs2295295	0.86[ASN][1000 genomes]
rs2295296	0.85[ASN][1000 genomes]
rs2396425	0.85[ASN][1000 genomes]
rs2396504	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28360524	0.86[ASN][1000 genomes]
rs34677014	0.86[ASN][1000 genomes]
rs3763190	0.86[ASN][1000 genomes]
rs3923353	0.97[ASN][1000 genomes]
rs4072928	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236086	0.86[ASN][1000 genomes]
rs4267941	1.00[JPT][hapmap]
rs4312985	0.86[ASN][1000 genomes]
rs4341001	0.86[ASN][1000 genomes]
rs4352679	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4373351	0.97[ASN][1000 genomes]
rs4400216	1.00[JPT][hapmap]
rs4401652	0.86[ASN][1000 genomes]
rs4443508	1.00[JPT][hapmap]
rs4446571	0.98[ASN][1000 genomes]
rs4463250	0.83[ASN][1000 genomes]
rs4479922	1.00[JPT][hapmap]
rs4590263	0.86[ASN][1000 genomes]
rs4610549	0.82[ASN][1000 genomes]
rs4711813	0.86[ASN][1000 genomes]
rs4711814	0.86[ASN][1000 genomes]
rs4714845	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4714847	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4714848	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4714850	0.86[ASN][1000 genomes]
rs4714853	0.86[ASN][1000 genomes]
rs56243649	0.86[ASN][1000 genomes]
rs58100797	0.81[ASN][1000 genomes]
rs59983488	0.85[ASN][1000 genomes]
rs60346641	0.86[ASN][1000 genomes]
rs60826731	0.86[ASN][1000 genomes]
rs62400336	0.82[AMR][1000 genomes]
rs6458420	0.80[ASN][1000 genomes]
rs6458425	0.83[ASN][1000 genomes]
rs6458427	0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs6458428	0.85[ASN][1000 genomes]
rs6458430	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6458440	0.86[ASN][1000 genomes]
rs6458441	0.97[ASN][1000 genomes]
rs6899763	0.89[YRI][hapmap]
rs6901786	0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6905396	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6905959	0.80[ASN][1000 genomes]
rs6919847	0.86[YRI][hapmap]
rs6919873	1.00[JPT][hapmap]
rs6919998	1.00[JPT][hapmap]
rs6920046	1.00[JPT][hapmap]
rs6926638	0.86[ASN][1000 genomes]
rs6927213	1.00[JPT][hapmap]
rs6928753	0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6932804	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932926	0.86[ASN][1000 genomes]
rs6933449	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6934594	0.98[ASN][1000 genomes]
rs6935398	0.99[ASN][1000 genomes]
rs6937317	0.88[ASN][1000 genomes]
rs6938177	0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6938316	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6941169	0.81[ASN][1000 genomes]
rs73735354	0.86[ASN][1000 genomes]
rs73735357	0.86[ASN][1000 genomes]
rs73735369	0.86[ASN][1000 genomes]
rs73735378	0.86[ASN][1000 genomes]
rs7451423	0.93[ASN][1000 genomes]
rs7738526	0.83[ASN][1000 genomes]
rs7740083	0.99[ASN][1000 genomes]
rs7757282	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7760112	0.86[ASN][1000 genomes]
rs7767025	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7769231	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs927658	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296453	0.88[ASN][1000 genomes]
rs9296455	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9296457	0.96[ASN][1000 genomes]
rs9296458	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9349313	0.80[ASN][1000 genomes]
rs9349315	0.83[ASN][1000 genomes]
rs9357478	0.86[ASN][1000 genomes]
rs9357480	0.88[ASN][1000 genomes]
rs9357484	0.99[ASN][1000 genomes]
rs9369551	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9369558	0.99[ASN][1000 genomes]
rs9381366	0.80[ASN][1000 genomes]
rs9381373	0.85[ASN][1000 genomes]
rs9381383	0.99[ASN][1000 genomes]
rs9395086	0.88[ASN][1000 genomes]
rs9395088	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9395095	0.99[ASN][1000 genomes]
rs9463076	0.82[ASN][1000 genomes]
rs9463081	0.88[ASN][1000 genomes]
rs9463083	0.99[ASN][1000 genomes]
rs9472451	0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs964452	0.81[AMR][1000 genomes]
rs967588	0.86[ASN][1000 genomes]
rs988147	0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	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
rs12524323	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45296200-45322800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:45298000-45305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:45298400-45320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:45299200-45333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:45299400-45343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:45301200-45304600	Enhancers	Osteobl	bone
7	chr6:45301600-45329600	Weak transcription	Dnd41	blood
8	chr6:45303600-45304000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45303600-45305000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:45303800-45304000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:45303800-45304200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:45303800-45304600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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