Variant report

Variant	rs1357337
Chromosome Location	chr1:175930937-175930938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175923519..175925834-chr1:175928249..175930995,3	K562	blood:
2	chr1:175923519..175925469-chr1:175929072..175930995,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10158829	0.82[CHB][hapmap]
rs10436864	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10494496	0.82[CHB][hapmap]
rs10737315	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10737316	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10753111	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10798427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798428	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798431	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10798432	0.85[CHB][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs10798433	0.81[ASN][1000 genomes]
rs10913109	0.85[AMR][1000 genomes]
rs1155229	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11576862	0.84[EUR][1000 genomes]
rs11806468	0.82[CHB][hapmap]
rs12029090	0.84[YRI][hapmap]
rs12038027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239888	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs1522637	1.00[CHB][hapmap]
rs16849522	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs17351808	0.91[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs17351933	0.91[CEU][hapmap];0.87[TSI][hapmap]
rs1770643	0.84[AMR][1000 genomes]
rs1831447	0.82[CHB][hapmap]
rs2039231	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2039232	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2481627	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.81[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2481634	0.84[AMR][1000 genomes]
rs2481641	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs2481647	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2481651	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2481653	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs2481657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2502822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2502824	1.00[CHB][hapmap]
rs2502826	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2502830	0.87[AMR][1000 genomes]
rs2502832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2502834	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[YRI][hapmap]
rs2502835	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2502836	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2502841	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs2502842	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes]
rs2502847	0.84[AMR][1000 genomes]
rs2861629	1.00[CHB][hapmap]
rs2861630	0.91[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs4129061	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4304533	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs4307526	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4314844	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460596	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs4543747	1.00[CHB][hapmap]
rs4601543	0.82[EUR][1000 genomes]
rs4603086	0.84[AMR][1000 genomes]
rs4652143	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4652148	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs553852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes]
rs56367284	0.84[AMR][1000 genomes]
rs602933	1.00[CHB][hapmap]
rs60964243	0.88[EUR][1000 genomes]
rs61186664	0.82[EUR][1000 genomes]
rs61820953	0.88[EUR][1000 genomes]
rs61820960	0.86[EUR][1000 genomes]
rs61820965	0.82[EUR][1000 genomes]
rs61820968	0.82[EUR][1000 genomes]
rs61821029	0.84[AMR][1000 genomes]
rs61822767	0.86[EUR][1000 genomes]
rs6425367	0.95[ASN][1000 genomes]
rs6425368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425370	0.81[ASN][1000 genomes]
rs6661828	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6680309	0.88[EUR][1000 genomes]
rs6684747	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6687043	0.82[ASW][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs6688211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6704509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs704827	0.87[AMR][1000 genomes]
rs74127150	0.88[EUR][1000 genomes]
rs74127154	0.88[EUR][1000 genomes]
rs7517351	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[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522442	1.00[CHB][hapmap]
rs7524972	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536464	1.00[CHB][hapmap]
rs7537435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7537480	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7539247	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7543769	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7545043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545639	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7553184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	0.91[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs796933	1.00[CHB][hapmap]
rs9783047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1357337	PIGC	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175889200-175937800	Weak transcription	Osteobl	bone
4	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
10	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
11	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:175903400-175951400	Weak transcription	K562	blood
14	chr1:175903600-175940800	Weak transcription	HMEC	breast
15	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
16	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
17	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
21	chr1:175906400-175962600	Weak transcription	NH-A	brain
22	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:175907800-175937400	Weak transcription	NHLF	lung
25	chr1:175907800-175940600	Weak transcription	Colonic Mucosa	Colon
26	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
27	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:175908000-175959400	Weak transcription	NHEK	skin
29	chr1:175908200-175939400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:175909600-175932200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:175909600-175942800	Weak transcription	Fetal Brain Female	brain
33	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart
35	chr1:175916000-175940600	Weak transcription	Hela-S3	cervix
36	chr1:175916200-175937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:175916200-175939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:175916400-175937400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:175916400-175937400	Weak transcription	NHDF-Ad	bronchial
40	chr1:175916400-175937600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:175916400-175939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:175916400-175939200	Weak transcription	HSMM	muscle
43	chr1:175916400-175940600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:175916400-175952200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:175917600-175940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:175917600-175953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:175919000-175947800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:175921200-175933600	Weak transcription	GM12878-XiMat	blood
49	chr1:175921200-175936800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:175921400-175937800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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