Variant report

Variant	rs10736380
Chromosome Location	chr1:151428605-151428606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:151428503-151428766	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:151428566-151428725	K562	blood:	n/a	n/a
3	MAFK	chr1:151428532-151428685	HepG2	liver:	n/a	n/a
4	IRF1	chr1:151428598-151428845	K562	blood:	n/a	n/a
5	CEBPB	chr1:151428590-151428633	A549	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
2	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
3	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
4	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
5	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
6	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
7	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
8	chr1:151428333..151430220-chr1:151430244..151432504,3	K562	blood:

No data

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10749662	0.86[EUR][1000 genomes]
rs11204807	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11204808	0.86[EUR][1000 genomes]
rs11204809	0.85[EUR][1000 genomes]
rs11204811	0.92[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11204815	0.89[EUR][1000 genomes]
rs11204819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204824	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11578888	0.92[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11583968	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11584694	0.86[EUR][1000 genomes]
rs11589645	0.87[EUR][1000 genomes]
rs11801791	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12025432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12029691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047617	0.86[EUR][1000 genomes]
rs12068166	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068368	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12071705	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120726	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12125310	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12740875	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743850	0.84[CEU][hapmap]
rs12751531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16833237	0.80[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1887544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1887545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274533	0.92[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2274534	0.92[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2274535	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2479379	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2479385	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2495380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2864122	0.86[EUR][1000 genomes]
rs3118720	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34884031	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748550	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811409	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3976737	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4246526	0.88[EUR][1000 genomes]
rs4246527	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4291502	0.84[CEU][hapmap]
rs4364884	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4528122	0.92[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4971042	0.92[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4971043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4971047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4971049	0.85[EUR][1000 genomes]
rs61818037	0.83[EUR][1000 genomes]
rs61818039	0.86[EUR][1000 genomes]
rs6587572	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587573	0.86[EUR][1000 genomes]
rs6587577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587584	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587585	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684085	0.81[CHD][hapmap];0.92[GIH][hapmap]
rs6684333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689436	0.86[EUR][1000 genomes]
rs7172	0.92[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7542776	0.86[EUR][1000 genomes]
rs7546151	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7546933	0.86[EUR][1000 genomes]
rs9659456	0.91[AFR][1000 genomes];0.88[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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10736380	MRPS21	cis	parietal	SCAN
rs10736380	POGZ	cis	cerebellum	SCAN
rs10736380	SPRR2B	cis	parietal	SCAN
rs10736380	SELENBP1	cis	Thyroid	GTEx
rs10736380	S100A4	cis	cerebellum	SCAN
rs10736380	SELENBP1	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
3	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
4	chr1:151410200-151429800	Weak transcription	Lung	lung
5	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
8	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
15	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
18	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
19	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
22	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:151416400-151429400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:151416800-151429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:151417000-151428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:151417000-151429200	Weak transcription	HUVEC	blood vessel
27	chr1:151417200-151429000	Weak transcription	HSMMtube	muscle
28	chr1:151417400-151429600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:151417600-151428800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:151417600-151428800	Weak transcription	Hela-S3	cervix
31	chr1:151418000-151429200	Weak transcription	Left Ventricle	heart
32	chr1:151418400-151428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:151418400-151429400	Weak transcription	Brain Substantia Nigra	brain
34	chr1:151418400-151429400	Weak transcription	Fetal Heart	heart
35	chr1:151418400-151429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:151418400-151429600	Weak transcription	Osteobl	bone
37	chr1:151418600-151429000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:151418600-151429200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:151418600-151429200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:151418600-151429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:151418600-151429400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:151418600-151429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:151418800-151428800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:151419000-151429400	Weak transcription	Liver	Liver
45	chr1:151421800-151429400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:151421800-151429600	Weak transcription	HMEC	breast
47	chr1:151422000-151429200	Weak transcription	Thymus	Thymus
48	chr1:151422000-151429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:151422000-151429400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:151422000-151430000	Weak transcription	Ovary	ovary

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