Variant report

Variant	rs10133035
Chromosome Location	chr14:103979127-103979128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103969311..103972021-chr14:103977810..103980718,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10134580	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10135868	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1013650	0.82[AFR][1000 genomes]
rs10139279	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141433	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143247	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10145793	0.81[EUR][1000 genomes]
rs10150072	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1022736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1028613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1136165	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11621037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622835	0.90[JPT][hapmap]
rs11623470	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11624367	0.81[EUR][1000 genomes]
rs11626483	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11626787	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626905	0.82[JPT][hapmap]
rs11627052	0.90[JPT][hapmap]
rs11627529	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11628213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11628969	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12879085	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12889639	0.82[EUR][1000 genomes]
rs12898029	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1467561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17617941	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17679475	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1803283	1.00[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1989565	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2010281	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2273699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2273700	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273703	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296484	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296486	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403180	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28361338	0.81[ASN][1000 genomes]
rs28369539	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28444993	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28496120	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28583452	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28626081	0.82[EUR][1000 genomes]
rs34216351	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3742458	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759579	0.86[CEU][hapmap]
rs3759584	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783394	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3783395	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3783402	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45441198	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4900572	0.80[EUR][1000 genomes]
rs4906321	0.90[CEU][hapmap]
rs55723020	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55859054	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56365443	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62006268	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62006272	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62007681	0.81[EUR][1000 genomes]
rs62007683	0.81[EUR][1000 genomes]
rs62007684	0.81[EUR][1000 genomes]
rs62007686	0.81[EUR][1000 genomes]
rs62007687	0.80[EUR][1000 genomes]
rs62007718	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62007719	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575983	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6575984	0.82[EUR][1000 genomes]
rs7140564	0.82[EUR][1000 genomes]
rs7145113	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146506	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150317	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7152202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7154246	0.82[EUR][1000 genomes]
rs7155014	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7156150	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7158822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7160208	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160366	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72708854	0.80[EUR][1000 genomes]
rs72708874	0.81[EUR][1000 genomes]
rs72708893	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72710714	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013101	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8019578	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs879552	0.80[AMR][1000 genomes]
rs9671911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active 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	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10133035	MARK3	cis	Thyroid	GTEx
rs10133035	BAG5	cis	multi-tissue	Pritchard
rs10133035	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs10133035	CKB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:103967000-103980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:103967000-103980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:103967000-103981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:103967800-103979400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:103970400-103984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:103970600-103984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:103971000-103984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
12	chr14:103971800-103985200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:103971800-103985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:103972000-103983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:103972000-103984400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:103972000-103985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:103972200-103979400	Weak transcription	Fetal Kidney	kidney
19	chr14:103972200-103985000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:103972800-103979600	Weak transcription	Aorta	Aorta
21	chr14:103973600-103979600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:103974200-103979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:103974600-103985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:103975400-103985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:103975800-103979200	Weak transcription	HepG2	liver
26	chr14:103975800-103981600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:103976400-103979200	Strong transcription	A549	lung
28	chr14:103976400-103985200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:103976600-103985600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:103976800-103984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:103977000-103984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:103977000-103984600	Weak transcription	K562	blood
33	chr14:103977000-103985000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:103977000-103986800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:103977000-103987000	Weak transcription	Dnd41	blood
36	chr14:103977400-103985400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:103977600-103984600	Weak transcription	Hela-S3	cervix
38	chr14:103977600-103985200	Weak transcription	GM12878-XiMat	blood
39	chr14:103977800-103984600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:103977800-103984600	Weak transcription	HUVEC	blood vessel
41	chr14:103978000-103984000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:103978000-103984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:103978000-103984600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:103978000-103984800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:103978000-103985000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:103978000-103985200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:103978000-103985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:103978200-103984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:103978200-103984400	Weak transcription	Liver	Liver
50	chr14:103978200-103985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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