Variant report

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30072527-30072734	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:30072580-30072730	GM12868	blood:	n/a	n/a
3	CTCF	chr6:30072580-30072730	HMF	breast:	n/a	n/a
4	CTCF	chr6:30072620-30072770	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr6:30072660-30072810	BE2_C	brain:	n/a	n/a
6	RAD21	chr6:30072511-30072838	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:30072580-30072730	HCT-116	colon:	n/a	n/a
8	CTCF	chr6:30072580-30072730	GM12864	blood:	n/a	n/a
9	CTCF	chr6:30072600-30072750	HPAF	blood vessel:	n/a	n/a
10	RAD21	chr6:30072467-30072800	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:30072640-30072790	HRE	kidney:	n/a	n/a
12	CTCF	chr6:30072580-30072730	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr6:30072521-30072810	HepG2	liver:	n/a	n/a
14	CTCF	chr6:30072580-30072730	HepG2	liver:	n/a	n/a
15	CTCF	chr6:30072620-30072770	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr6:30072640-30072790	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr6:30072600-30072750	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr6:30072485-30072772	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:30072600-30072750	GM12872	blood:	n/a	n/a
20	CTCF	chr6:30072580-30072730	HEK293	kidney:	n/a	n/a
21	CTCF	chr6:30072660-30072810	GM12872	blood:	n/a	n/a
22	CTCF	chr6:30072509-30072723	HepG2	liver:	n/a	n/a
23	CTCF	chr6:30072494-30072725	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30070301..30072986-chr6:30097734..30100221,43	MCF-7	breast:
2	chr6:30071292..30074099-chr6:30075439..30077084,2	K562	blood:
3	chr6:30027872..30030809-chr6:30069511..30072907,4	K562	blood:
4	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
5	chr6:30072138..30074365-chr6:30079433..30082098,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1108052	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1108053	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1110446	0.81[EUR][1000 genomes]
rs1110448	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1116221	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1116222	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1264694	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1264695	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1264696	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1264702	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2072110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2240071	0.81[EUR][1000 genomes]
rs2523994	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2524005	1.00[CEU][hapmap]
rs2844796	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457149	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6915823	0.90[AFR][1000 genomes]
rs916569	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2248289	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs2248289	ZKSCAN3	cis	parietal	SCAN
rs2248289	HIST1H4G	cis	cerebellum	SCAN
rs2248289	Hs.519979	cis	multi-tissue	Pritchard
rs2248289	HIST1H2AM	cis	parietal	SCAN
rs2248289	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2248289	HIST1H2BN	cis	parietal	SCAN
rs2248289	HIST1H2BM	cis	cerebellum	SCAN
rs2248289	ZNF323	cis	parietal	SCAN
rs2248289	ZSCAN23	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30070000-30075400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:30071400-30073200	Enhancers	Hela-S3	cervix
3	chr6:30071600-30079200	Weak transcription	Gastric	stomach
4	chr6:30071800-30072800	Enhancers	HepG2	liver
5	chr6:30071800-30073000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:30071800-30073400	Weak transcription	HMEC	breast
7	chr6:30071800-30073800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:30071800-30074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30071800-30074800	Weak transcription	Spleen	Spleen
10	chr6:30072000-30074000	Weak transcription	Stomach Mucosa	stomach
11	chr6:30072200-30073000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:30072200-30078000	Weak transcription	Colonic Mucosa	Colon

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