Variant report

Variant	rs314688
Chromosome Location	chr13:80023306-80023307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80022791..80024842-chr13:80026377..80029188,2	K562	blood:
2	chr13:80017886..80019741-chr13:80021356..80023922,2	K562	blood:
3	chr13:80016100..80017751-chr13:80021719..80023913,2	K562	blood:
4	chr13:79976864..79978863-chr13:80022728..80024342,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1022891	0.84[MEX][hapmap]
rs1208049	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1212082	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12865187	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12871015	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12877507	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1324868	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1335368	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1335370	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1408049	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1408658	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1409018	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1410336	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1475797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1577416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1577418	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1748761	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs1748768	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1752648	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1752649	0.88[JPT][hapmap]
rs1853830	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2025913	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2057573	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs2182009	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2182010	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2182873	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2265377	1.00[JPT][hapmap]
rs2265378	0.81[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs2274555	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2476173	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2484343	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2484345	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2760102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2760105	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2760106	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2763809	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs2763810	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap]
rs2783119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2783120	0.82[ASN][1000 genomes]
rs2783121	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2783122	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2783125	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2783126	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2876740	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap]
rs314687	0.96[ASN][1000 genomes]
rs314689	0.81[ASN][1000 genomes]
rs314690	0.85[ASN][1000 genomes]
rs3187338	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs3742117	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3742118	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs3742119	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap]
rs3742122	0.80[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs3752994	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs3818563	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs386603	0.95[ASN][1000 genomes]
rs3903388	0.92[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4145207	0.85[ASN][1000 genomes]
rs4146473	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs420387	0.81[EUR][1000 genomes]
rs4476060	0.93[ASN][1000 genomes]
rs4885633	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885634	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4885636	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs643778	0.81[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap]
rs6563098	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs6563100	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs6563104	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6563110	0.89[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6563113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6563115	0.82[ASN][1000 genomes]
rs6563116	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7317343	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7317416	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7319252	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7319320	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7321953	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7322167	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7322673	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs73235963	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7325095	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7327386	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7327603	0.88[JPT][hapmap]
rs7328494	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7329331	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs7331872	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7332367	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs7332913	0.88[JPT][hapmap];0.81[MEX][hapmap]
rs7336581	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7338530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7339303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7981067	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs7982263	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7987193	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs7987769	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7988601	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7988784	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7990344	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7996493	0.86[ASN][1000 genomes]
rs7996652	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7998837	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs8001281	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs8002042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs912639	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap]
rs9318621	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9318623	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318625	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9318626	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap]
rs9318627	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap]
rs9318634	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318640	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs9318641	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs9318644	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9530899	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs9530901	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs9530913	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9530914	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9530922	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530925	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9545065	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545066	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs9545067	0.81[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs9545076	0.81[CHB][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs9545083	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545085	0.88[JPT][hapmap]
rs9545086	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs9545087	0.92[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545097	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs9545101	0.81[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes]
rs9545142	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9565486	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9565489	0.88[JPT][hapmap]
rs9565497	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs9565510	0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9574409	0.81[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs9574416	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9574418	0.86[AMR][1000 genomes]
rs9574422	0.92[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9574429	0.93[ASN][1000 genomes]
rs9574434	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9593396	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes]
rs9593399	0.93[ASN][1000 genomes]
rs9601240	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9601242	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs987284	0.82[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs314688	SLAIN1	cis	cerebellum	SCAN
rs314688	DERA	trans	parietal	SCAN
rs314688	RP11-25J23.3	cis	Thyroid	GTEx
rs314688	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80016200-80025800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:80020200-80024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:80020800-80025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:80020800-80025600	Weak transcription	Fetal Thymus	thymus
7	chr13:80021000-80025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:80021000-80025800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:80021400-80025400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:80022200-80025400	Enhancers	Dnd41	blood
11	chr13:80022200-80026000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr13:80022200-80026000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:80022200-80026600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr13:80022400-80024000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr13:80022400-80026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:80022400-80027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:80022600-80023400	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:80022600-80023400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:80022600-80023600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:80022600-80024000	Enhancers	Primary T cells from cord blood	blood
21	chr13:80022600-80024000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr13:80022600-80024400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr13:80022600-80024800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:80022800-80025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:80023000-80025400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:80023000-80025400	Weak transcription	HUVEC	blood vessel
27	chr13:80023200-80024200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:80023200-80024400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr13:80023200-80025600	Weak transcription	GM12878-XiMat	blood

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