Variant report

Variant	rs7154246
Chromosome Location	chr14:103876794-103876795
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	chr14:103874646..103876985-chr14:103887781..103889721,2	MCF-7	breast:
2	chr14:103876768..103879568-chr14:103882112..103883749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10133035	0.82[EUR][1000 genomes]
rs10134580	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013650	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139279	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141120	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141388	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141433	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10143247	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145793	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150072	0.85[EUR][1000 genomes]
rs1028613	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621510	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622356	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623869	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624367	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626483	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628213	0.89[EUR][1000 genomes]
rs11628969	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888077	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889639	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890750	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898029	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17617941	0.89[EUR][1000 genomes]
rs17679475	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1803283	0.80[EUR][1000 genomes]
rs1951392	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961600	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989565	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010281	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273699	0.83[AMR][1000 genomes]
rs2273700	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273703	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403180	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28361338	0.81[EUR][1000 genomes]
rs28369539	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28444993	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28496120	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28583452	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28626081	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216351	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742458	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759579	0.81[ASN][1000 genomes]
rs3783394	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783402	0.86[EUR][1000 genomes]
rs3825566	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900572	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906320	0.81[AFR][1000 genomes]
rs4906321	0.87[EUR][1000 genomes]
rs55859054	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56365443	0.89[EUR][1000 genomes]
rs62006268	0.89[EUR][1000 genomes]
rs62007681	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007683	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007684	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007686	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007687	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007718	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007719	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140564	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71419613	0.82[AMR][1000 genomes]
rs7145113	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150317	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152202	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155014	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156150	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7156619	0.82[AMR][1000 genomes]
rs7158144	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158822	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160208	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7160366	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708854	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708874	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708893	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013101	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8015918	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019578	0.85[EUR][1000 genomes]
rs9671911	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7154246	MARK3	cis	Thyroid	GTEx
rs7154246	BAG5	cis	multi-tissue	Pritchard
rs7154246	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
3	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103868400-103878400	Weak transcription	Fetal Kidney	kidney
5	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:103869200-103878400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:103870600-103878400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
14	chr14:103871000-103878000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
18	chr14:103871000-103883600	Strong transcription	Dnd41	blood
19	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:103871200-103878400	Weak transcription	Esophagus	oesophagus
21	chr14:103871200-103878600	Weak transcription	NHLF	lung
22	chr14:103871200-103880000	Weak transcription	NHDF-Ad	bronchial
23	chr14:103871400-103878000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:103871400-103879600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:103871400-103881200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr14:103871400-103881400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:103872600-103878200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:103873200-103881000	Strong transcription	Primary T cells from cord blood	blood
34	chr14:103873400-103876800	Enhancers	Pancreas	Pancrea
35	chr14:103873400-103876800	Strong transcription	Hela-S3	cervix
36	chr14:103873400-103880600	Strong transcription	Osteobl	bone
37	chr14:103874200-103876800	Enhancers	K562	blood
38	chr14:103874200-103881000	Strong transcription	Thymus	Thymus
39	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:103874800-103877800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:103875000-103877400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:103875000-103878600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:103875000-103880000	Weak transcription	Fetal Brain Female	brain
46	chr14:103875000-103880600	Weak transcription	A549	lung
47	chr14:103875200-103876800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:103875200-103878400	Weak transcription	Liver	Liver
49	chr14:103875200-103878400	Weak transcription	GM12878-XiMat	blood
50	chr14:103875200-103878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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