Variant report

Variant	rs2347427
Chromosome Location	chr6:71296514-71296515
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71295996..71298551-chr6:71301722..71304064,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1075262	0.96[CEU][hapmap]
rs10945236	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1140297	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1208476	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1208477	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12190556	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12198920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12205103	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215765	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13199529	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13206086	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13213357	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13437371	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13654	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534050	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1917344	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2691505	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2691506	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2747703	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2881632	0.81[ASN][1000 genomes]
rs34378057	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34873840	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35516318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35542509	0.83[ASN][1000 genomes]
rs3763251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6455371	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6925112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6925839	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7341224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7739098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7756652	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9446271	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9446272	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9446273	0.84[AMR][1000 genomes]
rs9446274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9446275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455133	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9455173	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9455179	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs998986	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2347427	C6orf57	cis	lung	GTEx
rs2347427	C6orf57	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71296800	Weak transcription	Pancreas	Pancrea
2	chr6:71277200-71300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:71277400-71299000	Weak transcription	NHDF-Ad	bronchial
6	chr6:71277400-71300600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
8	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
11	chr6:71277800-71301800	Weak transcription	HepG2	liver
12	chr6:71277800-71301800	Weak transcription	NHEK	skin
13	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:71278400-71300800	Weak transcription	Fetal Kidney	kidney
16	chr6:71278600-71308800	Weak transcription	Dnd41	blood
17	chr6:71278800-71298200	Weak transcription	K562	blood
18	chr6:71281800-71298400	Weak transcription	NHLF	lung
19	chr6:71286000-71297400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
21	chr6:71286000-71304800	Weak transcription	Gastric	stomach
22	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
23	chr6:71286800-71301600	Weak transcription	Lung	lung
24	chr6:71287400-71296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:71288400-71301600	Weak transcription	Fetal Heart	heart
26	chr6:71288400-71309800	Weak transcription	Spleen	Spleen
27	chr6:71288600-71298000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:71288800-71300600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:71289000-71301000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:71289200-71298000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:71289200-71298400	Strong transcription	Placenta	Placenta
32	chr6:71289200-71300800	Strong transcription	Adipose Nuclei	Adipose
33	chr6:71289200-71301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:71289400-71302600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:71289600-71300200	Weak transcription	Stomach Mucosa	stomach
36	chr6:71289800-71298000	Strong transcription	Liver	Liver
37	chr6:71289800-71310200	Weak transcription	Colonic Mucosa	Colon
38	chr6:71290000-71296600	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:71290000-71298400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:71290000-71298800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:71291200-71299400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:71291400-71307800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:71291600-71297200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:71291600-71301800	Weak transcription	Brain Substantia Nigra	brain
45	chr6:71291600-71304800	Weak transcription	Brain Angular Gyrus	brain
46	chr6:71291600-71310000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:71291800-71302200	Weak transcription	Osteobl	bone
48	chr6:71291800-71302800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:71292000-71297400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:71292000-71302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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