Variant report

Variant	rs7011803
Chromosome Location	chr8:110548448-110548449
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	chr8:110548444-110548521	GM12878	blood:	n/a	n/a
2	GATA3	chr8:110548212-110548599	SH-SY5Y	brain:	n/a	chr8:110548398-110548407
3	GATA2	chr8:110548151-110548556	SH-SY5Y	brain:	n/a	chr8:110548398-110548407

No.	Distal block	Cell Line	Cell type
1	chr8:110528786..110530891-chr8:110547707..110549539,2	MCF-7	breast:
2	chr8:110346524..110348211-chr8:110547153..110549713,2	K562	blood:
3	chr8:110356416..110359294-chr8:110548274..110550933,2	MCF-7	breast:
4	chr8:110544819..110549449-chr8:110549976..110554355,13	K562	blood:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000120526	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10088258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088612	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10088684	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1009371	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10097258	0.81[YRI][hapmap]
rs10108943	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10111682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013482	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1026437	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1044230	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10505133	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955518	0.81[YRI][hapmap]
rs12546429	0.81[YRI][hapmap]
rs12680439	0.81[YRI][hapmap]
rs13249244	0.95[ASN][1000 genomes]
rs13254461	0.81[YRI][hapmap]
rs13258279	0.81[YRI][hapmap]
rs13262995	0.81[YRI][hapmap]
rs13266374	0.81[YRI][hapmap]
rs13439318	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13439864	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1379361	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1379363	0.81[YRI][hapmap]
rs1379364	0.80[YRI][hapmap]
rs1379365	0.83[YRI][hapmap]
rs1379366	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1379367	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1457282	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1457283	0.86[ASN][1000 genomes]
rs1457288	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1457292	0.81[YRI][hapmap]
rs1457294	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1457295	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458920	0.81[YRI][hapmap]
rs1563578	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1563580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1617259	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1617350	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1630134	0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1630942	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673383	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673384	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673389	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673392	0.81[AFR][1000 genomes]
rs1673395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673399	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673409	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673411	0.91[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1673412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1673413	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673415	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1673416	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1673419	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1673420	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1673421	0.85[CHB][hapmap];0.92[ASN][1000 genomes]
rs1673422	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1673424	0.91[ASN][1000 genomes]
rs1673425	0.91[ASN][1000 genomes]
rs1673426	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1673427	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673428	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17377636	0.95[ASN][1000 genomes]
rs17449762	0.95[ASN][1000 genomes]
rs1783140	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783141	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1783147	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783148	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783153	0.85[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs1783154	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1783155	0.92[ASN][1000 genomes]
rs1783157	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1783158	0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1783159	0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1783161	0.91[ASN][1000 genomes]
rs1783162	0.91[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1783165	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1783166	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1783167	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783168	0.91[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1783169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783170	0.86[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1783171	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783172	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783174	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783175	0.95[ASN][1000 genomes]
rs1824193	0.81[YRI][hapmap]
rs1870108	0.81[YRI][hapmap]
rs1892759	0.94[JPT][hapmap]
rs1892760	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2022934	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2022935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124982	0.81[YRI][hapmap]
rs2154658	0.94[JPT][hapmap]
rs2154660	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236627	0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2236628	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2607624	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607625	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607627	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607628	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607629	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607630	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607631	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607632	0.88[ASN][1000 genomes]
rs2607633	0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2607635	0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607636	0.88[ASN][1000 genomes]
rs2703377	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2703382	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2703384	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2703386	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2703387	0.91[ASN][1000 genomes]
rs2703388	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2703389	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2844231	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2844234	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs2844235	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844236	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2844254	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844255	0.88[ASN][1000 genomes]
rs2844256	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2844257	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844258	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844259	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844261	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808380	0.80[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4529437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735134	0.81[YRI][hapmap]
rs6995356	0.92[ASN][1000 genomes]
rs7006166	0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7011340	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs714994	0.93[YRI][hapmap]
rs720139	0.94[ASN][1000 genomes]
rs720140	0.94[ASN][1000 genomes]
rs730885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753995	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7818726	0.87[ASN][1000 genomes]
rs7819141	0.81[YRI][hapmap]
rs7821242	0.95[ASN][1000 genomes]
rs897840	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897842	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs921958	0.81[YRI][hapmap]
rs930877	0.88[ASN][1000 genomes]
rs9642806	0.81[YRI][hapmap]
rs9656793	0.81[YRI][hapmap]
rs9656882	0.81[YRI][hapmap]
rs965930	0.81[YRI][hapmap]

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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7011803	PKHD1L1	cis	multi-tissue	Pritchard
rs7011803	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs7011803	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110543200-110550600	Weak transcription	GM12878-XiMat	blood
2	chr8:110543600-110551200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:110544400-110550800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:110545600-110551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:110546600-110549600	Enhancers	Fetal Brain Male	brain
6	chr8:110546800-110548600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:110546800-110549800	Enhancers	Fetal Lung	lung
8	chr8:110547400-110550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:110547400-110550800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:110547400-110551200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:110547600-110550600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:110547800-110550000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:110547800-110551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:110548000-110551200	Weak transcription	NHEK	skin
15	chr8:110548200-110551000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:110548200-110551000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:110548200-110551000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:110548200-110551000	Weak transcription	Hela-S3	cervix
19	chr8:110548400-110548800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:110548400-110549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:110548400-110549600	Weak transcription	Brain Germinal Matrix	brain
22	chr8:110548400-110550000	Enhancers	K562	blood
23	chr8:110548400-110550600	Weak transcription	Fetal Brain Female	brain
24	chr8:110548400-110550800	Weak transcription	Colonic Mucosa	Colon
25	chr8:110548400-110551000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:110548400-110551000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:110548400-110551200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:110548400-110551200	Weak transcription	HSMMtube	muscle

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