Variant report

Variant	rs6575983
Chromosome Location	chr14:103869849-103869850
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103868073..103870458-chr14:103882409..103885335,2	MCF-7	breast:
2	chr14:103798722..103803234-chr14:103866449..103871829,6	MCF-7	breast:
3	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
4	chr14:103867682..103870650-chr14:103878470..103880525,2	K562	blood:
5	chr14:103869618..103871185-chr14:103898241..103901206,2	MCF-7	breast:
6	chr14:103798810..103800403-chr14:103867650..103869868,2	K562	blood:
7	chr14:103808960..103811171-chr14:103869358..103871126,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244691	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10133035	0.81[EUR][1000 genomes]
rs10134580	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013650	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139279	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141120	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141388	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141433	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10143247	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145793	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150072	0.84[EUR][1000 genomes]
rs1028613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1107070	0.83[YRI][hapmap]
rs1116095	0.83[YRI][hapmap]
rs11621037	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11621510	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622356	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11622835	0.93[JPT][hapmap]
rs11623869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624367	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626483	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11626905	0.86[JPT][hapmap]
rs11627052	0.83[CHD][hapmap];0.93[JPT][hapmap]
rs11628213	0.88[EUR][1000 genomes]
rs11628969	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435516	0.83[YRI][hapmap]
rs12879085	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888077	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889639	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890750	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898029	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467561	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs17617941	0.88[EUR][1000 genomes]
rs17679475	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17841064	0.83[YRI][hapmap]
rs1803283	0.96[CEU][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs1951392	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961600	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989565	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2273700	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273703	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2296484	0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs2403180	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2756135	0.83[YRI][hapmap]
rs28361338	0.81[EUR][1000 genomes]
rs28369539	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28444993	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28496120	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28583452	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28626081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216351	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742458	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759579	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs3783394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783395	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783402	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs3825566	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900572	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906319	0.86[YRI][hapmap]
rs4906320	0.86[YRI][hapmap]
rs4906321	0.96[CEU][hapmap];0.83[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs55859054	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56365443	0.88[EUR][1000 genomes]
rs62006268	0.88[EUR][1000 genomes]
rs62007681	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007683	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007684	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007686	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007687	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007718	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007719	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140647	0.85[YRI][hapmap]
rs71419613	0.82[AMR][1000 genomes]
rs7144010	0.81[AFR][1000 genomes]
rs7145113	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7149767	0.83[YRI][hapmap]
rs7150317	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152202	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156150	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7156619	0.82[AMR][1000 genomes]
rs7158144	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158822	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160208	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7160366	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708854	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708874	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708893	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013101	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015918	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8018400	0.83[YRI][hapmap]
rs8019578	0.84[EUR][1000 genomes]
rs9671911	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs975892	0.83[YRI][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6575983	EIF5	cis	cerebellum	SCAN
rs6575983	MARK3	cis	Thyroid	GTEx
rs6575983	BAG5	cis	multi-tissue	Pritchard
rs6575983	C14orf153	cis	cerebellum	SCAN
rs6575983	KLC1	cis	parietal	SCAN
rs6575983	MARK3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
2	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
7	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
12	chr14:103862400-103870200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:103863200-103870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:103863800-103871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:103864200-103871200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr14:103864200-103871400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:103864400-103870800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:103865000-103871400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:103865000-103872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:103866000-103870800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:103866000-103870800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:103866000-103871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:103866400-103871200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:103866400-103871400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:103866400-103871400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr14:103866400-103871600	Enhancers	Brain Anterior Caudate	brain
27	chr14:103866600-103870200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:103866600-103870600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:103866600-103870600	Weak transcription	Lung	lung
30	chr14:103866600-103871000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:103866800-103870000	Enhancers	Primary B cells from cord blood	blood
33	chr14:103866800-103870400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:103866800-103870600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:103866800-103871600	Enhancers	Brain Angular Gyrus	brain
36	chr14:103866800-103871600	Enhancers	Brain Hippocampus Middle	brain
37	chr14:103867000-103870800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:103867000-103871200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:103867400-103871400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:103867400-103871400	Enhancers	HSMM	muscle
41	chr14:103867400-103871800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr14:103867600-103870400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:103867600-103870600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:103867600-103870800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:103867600-103870800	Enhancers	Hela-S3	cervix
46	chr14:103867600-103870800	Enhancers	HSMMtube	muscle
47	chr14:103867600-103871800	Enhancers	Fetal Heart	heart
48	chr14:103867800-103871200	Enhancers	Brain Substantia Nigra	brain
49	chr14:103868000-103870400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:103868000-103871000	Enhancers	Muscle Satellite Cultured Cells	--

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