Variant report

Variant	rs6593011
Chromosome Location	chr7:50632796-50632797
allele	A/C
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	MXI1	chr7:50631638-50633619	SK-N-SH	brain:	n/a	n/a
2	MAFF	chr7:50632787-50633306	HepG2	liver:	n/a	n/a
3	HNF4G	chr7:50632687-50633358	HepG2	liver:	n/a	chr7:50633181-50633193 chr7:50633176-50633189 chr7:50633176-50633190 chr7:50633176-50633190 chr7:50633177-50633189
4	CHD2	chr7:50632711-50633078	HepG2	liver:	n/a	n/a
5	RAD21	chr7:50632584-50632965	SK-N-SH_RA	brain:	n/a	n/a
6	MYBL2	chr7:50632524-50633459	HepG2	liver:	n/a	n/a
7	MYBL2	chr7:50632686-50633472	HepG2	liver:	n/a	n/a
8	MYC	chr7:50632690-50633358	HepG2	liver:	n/a	n/a
9	MBD4	chr7:50632739-50633574	HepG2	liver:	n/a	n/a
10	SP1	chr7:50632649-50633435	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:50632546-50633385	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:50632625-50633364	HepG2	liver:	n/a	n/a
13	HEY1	chr7:50632621-50633266	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:50632590-50632917	K562	blood:	n/a	n/a
15	HDAC2	chr7:50632615-50633479	HepG2	liver:	n/a	chr7:50633183-50633191
16	RFX5	chr7:50632760-50633361	HepG2	liver:	n/a	n/a
17	RAD21	chr7:50632656-50633324	HepG2	liver:	n/a	n/a
18	HEY1	chr7:50632663-50633385	HepG2	liver:	n/a	n/a
19	EP300	chr7:50632685-50633477	HepG2	liver:	n/a	n/a
20	TEAD4	chr7:50632608-50633506	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:50631981-50633423	HepG2	liver:	n/a	n/a
22	MAX	chr7:50632586-50633581	HepG2	liver:	n/a	n/a
23	MAX	chr7:50632498-50633437	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:50632672-50633223	HepG2	liver:	n/a	n/a
25	MXI1	chr7:50632633-50633395	HepG2	liver:	n/a	n/a
26	ARID3A	chr7:50632370-50633385	HepG2	liver:	n/a	n/a
27	TBP	chr7:50632616-50633359	HepG2	liver:	n/a	n/a
28	SMC3	chr7:50632668-50633358	HepG2	liver:	n/a	chr7:50632669-50632677
29	POLR2A	chr7:50632674-50632910	HepG2	liver:	n/a	n/a
30	BHLHE40	chr7:50632734-50633318	HepG2	liver:	n/a	n/a
31	NFIC	chr7:50632660-50633358	HepG2	liver:	n/a	n/a
32	RAD21	chr7:50632635-50632909	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr7:50632720-50632870	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10268819	0.82[TSI][hapmap]
rs10499696	0.82[TSI][hapmap]
rs11575298	0.82[TSI][hapmap]
rs12718611	0.82[EUR][1000 genomes]
rs2329347	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329486	1.00[JPT][hapmap]
rs28648530	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28722815	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245549	1.00[CHD][hapmap]
rs4947631	1.00[CHD][hapmap]
rs7791875	1.00[CHD][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6593011	C7orf69	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:50630800-50633200	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:50630800-50633200	Active TSS	Fetal Intestine Small	intestine
5	chr7:50631000-50633400	Active TSS	Fetal Intestine Large	intestine
6	chr7:50631600-50633200	Flanking Active TSS	Liver	Liver
7	chr7:50631800-50633000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:50631800-50633000	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:50631800-50633200	Active TSS	Fetal Kidney	kidney
10	chr7:50631800-50633400	Active TSS	Colonic Mucosa	Colon
11	chr7:50631800-50633400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:50631800-50633800	Enhancers	Adipose Nuclei	Adipose
13	chr7:50631800-50633800	Flanking Active TSS	HepG2	liver
14	chr7:50632000-50634000	Enhancers	Stomach Mucosa	stomach
15	chr7:50632200-50632800	Active TSS	Pancreas	Pancrea
16	chr7:50632200-50633200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:50632400-50633000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:50632400-50633200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr7:50632400-50633800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:50632600-50633200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:50632600-50633400	Flanking Active TSS	A549	lung

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