Variant report

Variant	rs1055130
Chromosome Location	chr8:120847188-120847189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120844551-120847497	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120845425..120847415-chr8:120848742..120851022,2	K562	blood:

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10086913	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10088232	0.82[ASN][1000 genomes]
rs10092747	0.88[CHD][hapmap];0.83[JPT][hapmap]
rs10095282	0.86[JPT][hapmap]
rs10096486	0.82[ASN][1000 genomes]
rs10096846	0.86[JPT][hapmap]
rs10101278	0.86[JPT][hapmap]
rs10103886	0.86[JPT][hapmap]
rs10107579	0.80[YRI][hapmap]
rs10108071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109513	0.82[ASN][1000 genomes]
rs10109951	0.86[JPT][hapmap]
rs10110601	0.86[JPT][hapmap]
rs10113252	0.83[ASN][1000 genomes]
rs10216503	0.85[YRI][hapmap]
rs10505374	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1055131	0.87[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs1055133	0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10955941	0.83[YRI][hapmap]
rs12155707	0.86[ASN][1000 genomes]
rs12542706	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12543087	0.86[JPT][hapmap]
rs12707880	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13257316	0.83[YRI][hapmap]
rs13258336	0.90[ASN][1000 genomes]
rs13261032	0.86[JPT][hapmap]
rs13262434	0.86[JPT][hapmap]
rs13268676	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.82[ASN][1000 genomes]
rs13270831	0.86[JPT][hapmap]
rs13272214	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs13279398	0.82[YRI][hapmap]
rs14027	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1433951	0.86[JPT][hapmap]
rs1433952	0.81[ASN][1000 genomes]
rs1509348	0.81[ASN][1000 genomes]
rs1567358	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1567359	0.86[JPT][hapmap]
rs16893077	0.86[JPT][hapmap]
rs16893101	0.86[JPT][hapmap]
rs16893113	0.86[JPT][hapmap]
rs16893140	0.85[JPT][hapmap]
rs1828238	0.86[JPT][hapmap]
rs1960439	0.86[ASN][1000 genomes]
rs1976575	0.86[JPT][hapmap]
rs2043430	0.86[JPT][hapmap]
rs2043431	0.86[JPT][hapmap]
rs2048239	0.86[JPT][hapmap]
rs2136375	0.93[ASN][1000 genomes]
rs2164022	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2289011	0.86[JPT][hapmap]
rs2326377	0.86[JPT][hapmap]
rs2326378	0.86[JPT][hapmap]
rs2634	0.86[JPT][hapmap]
rs28486048	0.89[ASN][1000 genomes]
rs28736344	0.82[ASN][1000 genomes]
rs35019302	0.83[ASN][1000 genomes]
rs35148850	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812463	0.86[JPT][hapmap]
rs4380974	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4870931	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4870956	0.87[ASN][1000 genomes]
rs4871577	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871578	0.86[JPT][hapmap]
rs4871587	1.00[CEU][hapmap]
rs4871595	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4871597	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871629	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4871634	0.86[JPT][hapmap]
rs4871648	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871660	0.86[ASN][1000 genomes]
rs6469846	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6469849	0.86[JPT][hapmap]
rs6469852	0.86[JPT][hapmap]
rs6469853	0.86[JPT][hapmap]
rs6983932	0.86[JPT][hapmap]
rs6987099	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6989559	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6989791	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6992109	0.91[ASN][1000 genomes]
rs6996250	0.87[ASN][1000 genomes]
rs7009073	0.86[JPT][hapmap]
rs7011974	0.86[JPT][hapmap]
rs7012857	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7015470	0.82[YRI][hapmap]
rs7017010	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7017045	0.84[ASN][1000 genomes]
rs7017279	0.86[JPT][hapmap]
rs7813438	0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.84[ASN][1000 genomes]
rs7813651	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7813680	0.83[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7821501	0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7825803	0.86[JPT][hapmap]
rs7827482	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7829198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832755	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];0.95[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7833112	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7833490	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7833706	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837213	0.86[JPT][hapmap]
rs7837589	0.86[JPT][hapmap]
rs7839110	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9297604	0.86[JPT][hapmap]
rs9297605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9693207	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1055130	TAF2	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120845600-120850000	Weak transcription	Stomach Mucosa	stomach
3	chr8:120845600-120852000	Weak transcription	Aorta	Aorta
4	chr8:120845600-120853200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:120845800-120847800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:120845800-120848000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:120845800-120849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:120845800-120849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:120845800-120855200	Weak transcription	NH-A	brain
12	chr8:120846000-120847400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:120846000-120848600	Weak transcription	Fetal Brain Male	brain
14	chr8:120846000-120848800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:120846000-120849800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:120846000-120851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:120846000-120855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:120846200-120847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:120846200-120847600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:120846200-120847800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:120846200-120847800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:120846200-120848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:120846200-120848000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:120846200-120848000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:120846200-120848000	Weak transcription	HMEC	breast
27	chr8:120846200-120848800	Weak transcription	Hela-S3	cervix
28	chr8:120846200-120849000	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:120846200-120849000	Weak transcription	Thymus	Thymus
30	chr8:120846200-120849400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:120846200-120849400	Weak transcription	Brain Germinal Matrix	brain
32	chr8:120846200-120849400	Weak transcription	Fetal Brain Female	brain
33	chr8:120846200-120849400	Weak transcription	Ovary	ovary
34	chr8:120846200-120849600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:120846200-120849600	Weak transcription	Placenta	Placenta
36	chr8:120846200-120849600	Weak transcription	Fetal Stomach	stomach
37	chr8:120846200-120849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:120846200-120850000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:120846200-120850800	Weak transcription	Brain Substantia Nigra	brain
40	chr8:120846200-120851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:120846200-120851800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:120846200-120852000	Weak transcription	Small Intestine	intestine
43	chr8:120846200-120852400	Weak transcription	Brain Angular Gyrus	brain
44	chr8:120846200-120852600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:120846200-120854200	Weak transcription	Psoas Muscle	Psoas
46	chr8:120846200-120854600	Weak transcription	Spleen	Spleen
47	chr8:120846200-120855400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:120846200-120856000	Weak transcription	Left Ventricle	heart
49	chr8:120846200-120857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:120846200-120857200	Strong transcription	Fetal Thymus	thymus

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