Variant report

Variant	rs147115478
Chromosome Location	chr1:220132750-220132751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:220131954-220133477	U2OS	brain:	n/a	n/a
2	KAP1	chr1:220131650-220133464	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220132728-220132778	Jurkat	blood:	n/a
2	chr1:220132728-220132778	AG04450	lung:	fetal
3	chr1:220132728-220132778	HIPEpiC	eye:	n/a
4	chr1:220132728-220132778	SK-N-SH	brain:	n/a
5	chr1:220132728-220132778	MCF10A-Er-Src	breast:	n/a
6	chr1:220132728-220132778	NB4	blood:	n/a
7	chr1:220132728-220132778	HEK293	kidney:	embryo
8	chr1:220132728-220132778	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:220132728-220132778	HCT-116	colon:	n/a
10	chr1:220132728-220132778	HepG2	liver:	n/a
11	chr1:220132728-220132778	HCF	heart:	n/a
12	chr1:220132728-220132778	PrEC	prostate:	n/a
13	chr1:220132728-220132778	SAEC	small airway:	n/a
14	chr1:220132728-220132778	AG10803	skin:	n/a
15	chr1:220132728-220132778	HEEpiC	esophagus:	n/a
16	chr1:220132728-220132778	BJ	skin:	n/a
17	chr1:220132728-220132778	U87	brain:	n/a
18	chr1:220132728-220132778	ovcar-3	ovarian:	n/a
19	chr1:220132728-220132778	RPTEC	kidney:	n/a
20	chr1:220132728-220132778	GM06990	blood:	n/a
21	chr1:220132728-220132778	GM19239	blood:	n/a
22	chr1:220132728-220132778	MCF-7	breast:	n/a
23	chr1:220132728-220132778	GM12891	blood:	n/a
24	chr1:220132728-220132778	HRPEpiC	eye:	n/a
25	chr1:220132728-220132778	K562	blood:	n/a
26	chr1:220132728-220132778	PFSK-1	brain:	n/a
27	chr1:220132728-220132778	Caco-2	colon:	n/a
28	chr1:220132728-220132778	SK-N-SH_RA	brain:	n/a
29	chr1:220132728-220132778	GM12878	blood:	n/a
30	chr1:220132728-220132778	NHBE	bronchial:	n/a
31	chr1:220132728-220132778	HCM	heart:	n/a
32	chr1:220132728-220132778	HRCEpiC	kidney:	n/a
33	chr1:220132728-220132778	A549	lung:	n/a
34	chr1:220132728-220132778	HAEpiC	amniotic membrane:	n/a
35	chr1:220132728-220132778	NH-A	brain:	n/a
36	chr1:220132728-220132778	CMK	blood:	n/a
37	chr1:220132728-220132778	SKMC	muscle:	n/a
38	chr1:220132728-220132778	IMR90	lung:	fetal
39	chr1:220132728-220132778	AoSMC	blood vessel:	n/a
40	chr1:220132728-220132778	AG04449	skin:	fetal
41	chr1:220132728-220132778	LNCaP	prostate:	n/a
42	chr1:220132728-220132778	HRE	kidney:	n/a
43	chr1:220132728-220132778	BE2_C	brain:	n/a
44	chr1:220132728-220132778	ECC-1	luminal epithelium:	n/a
45	chr1:220132728-220132778	NHDF-neo	bronchial:	n/a
46	chr1:220132728-220132778	Hela-S3	cervix:	n/a
47	chr1:220132728-220132778	AG09309	skin:	n/a
48	chr1:220132728-220132778	NT2-D1	testis:	n/a
49	chr1:220132728-220132778	HUVEC	blood vessel:	n/a
50	chr1:220132728-220132778	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000221673	TF binding region
SLC30A10	TF binding region
ENSG00000221673	CpG island
SLC30A10	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220129400-220133000	Weak transcription	Small Intestine	intestine
3	chr1:220132000-220133400	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr1:220132000-220138800	Weak transcription	Aorta	Aorta
5	chr1:220132200-220132800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
6	chr1:220132200-220132800	ZNF genes & repeats	K562	blood
7	chr1:220132200-220144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:220132400-220133000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:220132400-220133400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:220132400-220133600	Enhancers	Fetal Intestine Large	intestine
11	chr1:220132400-220143200	Weak transcription	Colonic Mucosa	Colon
12	chr1:220132600-220132800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:220132600-220132800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:220132600-220133600	Enhancers	Fetal Intestine Small	intestine

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