Variant report

Variant	rs7757330
Chromosome Location	chr6:87886335-87886336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr6:87886172-87886341	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:87885848-87886555	GM12878	blood:	n/a	n/a
3	WRNIP1	chr6:87885989-87886616	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:87880595..87882172-chr6:87885118..87887359,3	MCF-7	breast:
2	chr6:87884610..87889850-chr6:87890271..87893351,5	K562	blood:
3	chr6:87886069..87888632-chr6:87890271..87892855,3	K562	blood:

Variant related genes	Relation type
ENSG00000218313	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11759727	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13201289	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13210074	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16878497	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1925686	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025490	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs382956	0.80[EUR][1000 genomes]
rs3857486	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3999791	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235830	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4707344	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4707345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4707355	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6908834	0.85[EUR][1000 genomes]
rs6913159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926686	0.83[EUR][1000 genomes]
rs6932641	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6938885	0.83[EUR][1000 genomes]
rs6939075	0.83[EUR][1000 genomes]
rs6940325	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752414	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7758360	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767245	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs912815	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9294375	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9294376	0.83[EUR][1000 genomes]
rs9444476	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9444481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9444486	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9444488	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444490	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9444491	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9450619	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9450623	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450630	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450636	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9450637	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450638	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450639	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450640	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9450646	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9450651	0.84[EUR][1000 genomes]
rs9450653	0.83[EUR][1000 genomes]

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	nsv1024751	chr6:87433199-87908721	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv604114	chr6:87816905-87906053	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758067	chr6:87817883-87992957	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759453	chr6:87817883-87992957	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7757330	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs7757330	C6orf162	cis	multi-tissue	Pritchard
rs7757330	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs7757330	C6orf162	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87866600-87886600	Weak transcription	Aorta	Aorta
2	chr6:87866600-87889800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:87866600-87890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:87866600-87890200	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:87867000-87895600	Weak transcription	HSMM	muscle
6	chr6:87867000-87915600	Weak transcription	NH-A	brain
7	chr6:87867200-87893400	Weak transcription	Adipose Nuclei	Adipose
8	chr6:87867800-87886400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:87868000-87933000	Weak transcription	Hela-S3	cervix
10	chr6:87868200-87889600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:87868600-87889800	Weak transcription	Fetal Intestine Large	intestine
12	chr6:87871400-87890000	Weak transcription	Pancreas	Pancrea
13	chr6:87871400-87890200	Weak transcription	Gastric	stomach
14	chr6:87874200-87890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:87874200-87892600	Weak transcription	NHDF-Ad	bronchial
16	chr6:87874400-87924200	Weak transcription	Fetal Kidney	kidney
17	chr6:87874600-87890000	Weak transcription	Psoas Muscle	Psoas
18	chr6:87875000-87910400	Weak transcription	K562	blood
19	chr6:87876400-87890200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:87876400-87890600	Weak transcription	NHLF	lung
21	chr6:87876600-87890000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:87879600-87889000	Weak transcription	Spleen	Spleen
23	chr6:87879800-87889000	Weak transcription	Fetal Stomach	stomach
24	chr6:87879800-87889800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:87879800-87889800	Weak transcription	Fetal Intestine Small	intestine
26	chr6:87879800-87890000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:87879800-87890000	Weak transcription	Lung	lung
28	chr6:87879800-87923000	Weak transcription	Esophagus	oesophagus
29	chr6:87880200-87893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:87880600-87906000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:87881200-87893400	Weak transcription	HepG2	liver
32	chr6:87881400-87926200	Weak transcription	Liver	Liver
33	chr6:87881600-87893000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:87881600-87893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:87881800-87888200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:87881800-87889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:87881800-87909400	Weak transcription	Fetal Brain Male	brain
38	chr6:87882000-87889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:87882000-87899400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:87882200-87889800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:87882200-87889800	Weak transcription	Ovary	ovary
42	chr6:87882200-87890000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:87882200-87896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:87882400-87889000	Weak transcription	Brain Germinal Matrix	brain
45	chr6:87882400-87889800	Weak transcription	Fetal Brain Female	brain
46	chr6:87882800-87886400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:87883200-87886400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:87883200-87890200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:87883400-87890200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:87883400-87926200	Weak transcription	Fetal Lung	lung

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