Variant report

Variant	rs35516318
Chromosome Location	chr6:71178785-71178786
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	chr6:71176715..71179382-chr6:71180659..71182208,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1075262	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10945236	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1208476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208477	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190556	0.85[EUR][1000 genomes]
rs12198920	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12205103	0.83[EUR][1000 genomes]
rs12215765	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13202450	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206086	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13437371	0.82[EUR][1000 genomes]
rs13654	0.85[EUR][1000 genomes]
rs16869370	0.85[AFR][1000 genomes]
rs1775338	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1917344	0.83[EUR][1000 genomes]
rs2347427	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2691505	0.81[EUR][1000 genomes]
rs2747703	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34378057	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34873840	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35542509	0.81[ASN][1000 genomes]
rs3763251	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58370765	0.81[AFR][1000 genomes]
rs6455371	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6906592	0.87[AFR][1000 genomes]
rs6919794	0.86[AFR][1000 genomes]
rs6925112	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6925839	0.82[EUR][1000 genomes]
rs7341224	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7739098	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7756652	0.86[EUR][1000 genomes]
rs7769582	0.81[AFR][1000 genomes]
rs7773794	0.84[AFR][1000 genomes]
rs9294874	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9446258	0.86[AFR][1000 genomes]
rs9446274	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9446275	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9455130	0.82[AFR][1000 genomes]
rs9455132	0.86[AFR][1000 genomes]
rs9455133	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9455144	0.86[AFR][1000 genomes]
rs9455179	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9455180	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9455185	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9455186	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35516318	C6orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs35516318	C6orf57	cis	Thyroid	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:71125400-71188800	Weak transcription	HSMM	muscle
4	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:71130200-71185400	Weak transcription	K562	blood
6	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:71141400-71183400	Weak transcription	Right Ventricle	heart
9	chr6:71141400-71186800	Weak transcription	Fetal Brain Female	brain
10	chr6:71148800-71183200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:71149000-71183000	Weak transcription	Fetal Kidney	kidney
12	chr6:71149000-71185600	Weak transcription	Aorta	Aorta
13	chr6:71153200-71183200	Weak transcription	HepG2	liver
14	chr6:71154600-71188800	Weak transcription	Fetal Heart	heart
15	chr6:71155000-71185400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:71155400-71184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:71158200-71183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:71158200-71183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:71158200-71185600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
21	chr6:71158400-71183200	Weak transcription	Esophagus	oesophagus
22	chr6:71158400-71183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:71158400-71183400	Weak transcription	Ovary	ovary
24	chr6:71158400-71183600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:71158400-71184000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:71158400-71186800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:71158400-71198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:71158400-71213600	Weak transcription	NHEK	skin
29	chr6:71158600-71183600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:71158800-71179600	Weak transcription	Fetal Stomach	stomach
31	chr6:71158800-71182800	Weak transcription	Adipose Nuclei	Adipose
32	chr6:71158800-71182800	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:71158800-71183200	Weak transcription	Pancreas	Pancrea
34	chr6:71158800-71183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
36	chr6:71159400-71183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:71159800-71182400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:71159800-71183400	Weak transcription	Liver	Liver
39	chr6:71162800-71182800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:71162800-71183200	Weak transcription	Placenta	Placenta
41	chr6:71163000-71183000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:71163000-71183200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:71163000-71183200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:71163000-71183400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:71163000-71184200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:71163000-71184400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:71163200-71182400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:71163200-71183000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:71163200-71184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:71163200-71184200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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