Variant report

Variant	rs17187917
Chromosome Location	chr6:30080643-30080644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr6:30080489-30081505	GM19193	blood:	n/a	chr6:30081212-30081221 chr6:30080991-30081000 chr6:30081212-30081221 chr6:30080991-30081000
2	SPI1	chr6:30080434-30080712	GM12878	blood:	n/a	n/a
3	RELA	chr6:30080467-30081547	GM12891	blood:	n/a	chr6:30081212-30081221 chr6:30080991-30081000 chr6:30081212-30081221 chr6:30080991-30081000
4	WRNIP1	chr6:30080598-30080700	GM12878	blood:	n/a	n/a
5	SPI1	chr6:30080365-30080726	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30080642-30080692	HCPEpiC	choroid plexus:	n/a
2	chr6:30080642-30080692	GM19239	blood:	n/a
3	chr6:30080642-30080692	AG09309	skin:	n/a
4	chr6:30080642-30080692	PANC-1	pancreas:	n/a
5	chr6:30080642-30080692	HMEC	breast:	n/a
6	chr6:30080642-30080692	MCF10A-Er-Src	breast:	n/a
7	chr6:30080642-30080692	NHBE	bronchial:	n/a
8	chr6:30080642-30080692	AG04449	skin:	fetal
9	chr6:30080642-30080692	NHDF-neo	bronchial:	n/a
10	chr6:30080642-30080692	LNCaP	prostate:	n/a
11	chr6:30080642-30080692	HL-60	blood:	n/a
12	chr6:30080642-30080692	HRPEpiC	eye:	n/a
13	chr6:30080642-30080692	U87	brain:	n/a
14	chr6:30080642-30080692	NH-A	brain:	n/a
15	chr6:30080642-30080692	HRE	kidney:	n/a
16	chr6:30080642-30080692	CMK	blood:	n/a
17	chr6:30080642-30080692	HIPEpiC	eye:	n/a
18	chr6:30080642-30080692	HRCEpiC	kidney:	n/a
19	chr6:30080642-30080692	MCF-7	breast:	n/a
20	chr6:30080642-30080692	AG10803	skin:	n/a
21	chr6:30080642-30080692	SKMC	muscle:	n/a
22	chr6:30080642-30080692	H1-hESC	embryonic stem cell:	embryo
23	chr6:30080642-30080692	Hepatocyte	liver:	n/a
24	chr6:30080642-30080692	HCF	heart:	n/a
25	chr6:30080642-30080692	HCT-116	colon:	n/a
26	chr6:30080642-30080692	AoSMC	blood vessel:	n/a
27	chr6:30080642-30080692	GM06990	blood:	n/a
28	chr6:30080642-30080692	AG04450	lung:	fetal
29	chr6:30080642-30080692	GM12892	blood:	n/a
30	chr6:30080642-30080692	K562	blood:	n/a
31	chr6:30080642-30080692	SK-N-SH_RA	brain:	n/a
32	chr6:30080642-30080692	HepG2	liver:	n/a
33	chr6:30080642-30080692	SK-N-MC	brain:	n/a
34	chr6:30080642-30080692	ECC-1	luminal epithelium:	n/a
35	chr6:30080642-30080692	HCM	heart:	n/a
36	chr6:30080642-30080692	AG09319	gingival:	n/a
37	chr6:30080642-30080692	RPTEC	kidney:	n/a
38	chr6:30080642-30080692	HEK293	kidney:	embryo
39	chr6:30080642-30080692	HEEpiC	esophagus:	n/a
40	chr6:30080642-30080692	HAEpiC	amniotic membrane:	n/a
41	chr6:30080642-30080692	HNPCEpiC	eye:	n/a
42	chr6:30080642-30080692	BJ	skin:	n/a
43	chr6:30080642-30080692	SAEC	small airway:	n/a
44	chr6:30080642-30080692	ovcar-3	ovarian:	n/a
45	chr6:30080642-30080692	PFSK-1	brain:	n/a
46	chr6:30080642-30080692	Jurkat	blood:	n/a
47	chr6:30080642-30080692	NB4	blood:	n/a
48	chr6:30080642-30080692	GM12878	blood:	n/a
49	chr6:30080642-30080692	HUVEC	blood vessel:	n/a
50	chr6:30080642-30080692	T-47D	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30072138..30074365-chr6:30079433..30082098,2	K562	blood:
2	chr6:30072893..30076173-chr6:30078690..30081417,3	MCF-7	breast:
3	chr6:30073473..30076763-chr6:30077230..30080756,3	K562	blood:

No data

Variant related genes	Relation type
TRIM31	TF binding region
TRIM31	CpG island
ENSG00000204616	Chromatin interaction
ENSG00000231226	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17194293	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17194363	1.00[EUR][1000 genomes]
rs59795345	0.96[EUR][1000 genomes]
rs60471614	0.88[EUR][1000 genomes]
rs61043470	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv884055	chr6:30078275-30087776	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30078400-30081400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr6:30079200-30081000	Active TSS	Colonic Mucosa	Colon
3	chr6:30080000-30080800	Flanking Active TSS	Fetal Intestine Large	intestine
4	chr6:30080000-30081200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr6:30080000-30081800	Enhancers	Liver	Liver
6	chr6:30080200-30082400	Enhancers	HepG2	liver
7	chr6:30080400-30080800	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr6:30080400-30080800	Flanking Active TSS	A549	lung
9	chr6:30080600-30080800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr6:30080600-30081000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr6:30080600-30081000	Enhancers	Hela-S3	cervix
12	chr6:30080600-30081200	Weak transcription	Stomach Mucosa	stomach
13	chr6:30080600-30081800	Flanking Active TSS	GM12878-XiMat	blood

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