Variant report

Variant	rs10943084
Chromosome Location	chr6:73969722-73969723
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	chr6:73966087..73967944-chr6:73968086..73969956,2	MCF-7	breast:
2	chr6:73968889..73971935-chr6:73973198..73976161,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10455272	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943085	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943088	0.85[MEX][hapmap]
rs11963438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190274	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191242	1.00[JPT][hapmap]
rs12197094	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12198600	1.00[JPT][hapmap]
rs12199180	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12199709	1.00[ASN][1000 genomes]
rs12199821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207480	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208950	0.82[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210517	0.83[EUR][1000 genomes]
rs12210588	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213765	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215980	1.00[JPT][hapmap]
rs12216244	0.85[MEX][hapmap]
rs12529651	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883518	0.87[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883564	0.87[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883571	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603472	0.90[LWK][hapmap];0.82[AFR][1000 genomes]
rs2603474	0.82[AFR][1000 genomes]
rs35542640	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45491600	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810380	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159527	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411447	0.90[EUR][1000 genomes]
rs62411451	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438243	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438245	1.00[ASN][1000 genomes]
rs62440564	0.83[ASN][1000 genomes]
rs62440565	0.83[ASN][1000 genomes]
rs72947904	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1030079	chr6:73920050-73984084	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv886157	chr6:73922561-73969722	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10943084	C6orf148	Cis_1M	lymphoblastoid	RTeQTL
rs10943084	EIF3EP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73934000-73972400	Weak transcription	Ovary	ovary
2	chr6:73950400-73972200	Weak transcription	Right Atrium	heart
3	chr6:73957800-73971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:73958200-73972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:73967200-73971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:73968600-73971600	Weak transcription	GM12878-XiMat	blood
7	chr6:73968800-73970000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:73968800-73972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:73968800-73972400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:73969000-73969800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:73969200-73969800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:73969200-73969800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:73969200-73970000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:73969200-73970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:73969200-73970000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:73969200-73970000	Enhancers	HMEC	breast
17	chr6:73969200-73970000	Enhancers	NHEK	skin
18	chr6:73969200-73970200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:73969400-73969800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:73969400-73969800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:73969400-73970000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:73969400-73970000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:73969400-73970000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:73969400-73971800	Weak transcription	Brain Anterior Caudate	brain
25	chr6:73969600-73969800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:73969600-73971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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