Variant report

Variant	rs144926819
Chromosome Location	chr1:159919366-159919367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:159918826-159919401	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr1:159918770-159919424	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr1:159918856-159919427	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr1:159918844-159919408	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr1:159918645-159919527	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr1:159918746-159919505	ECC-1	luminal epithelium:	n/a	chr1:159918863-159918872 chr1:159919435-159919445

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159919350-159919400	CMK	blood:	n/a
2	chr1:159919350-159919400	AG04450	lung:	fetal
3	chr1:159919350-159919400	K562	blood:	n/a
4	chr1:159919350-159919400	HAEpiC	amniotic membrane:	n/a
5	chr1:159919350-159919400	AG10803	skin:	n/a
6	chr1:159919350-159919400	Jurkat	blood:	n/a
7	chr1:159919350-159919400	ECC-1	luminal epithelium:	n/a
8	chr1:159919350-159919400	U87	brain:	n/a
9	chr1:159919350-159919400	PANC-1	pancreas:	n/a
10	chr1:159919350-159919400	BE2_C	brain:	n/a
11	chr1:159919350-159919400	HCF	heart:	n/a
12	chr1:159919350-159919400	Hela-S3	cervix:	n/a
13	chr1:159919350-159919400	RPTEC	kidney:	n/a
14	chr1:159919350-159919400	AG09319	gingival:	n/a
15	chr1:159919350-159919400	HCT-116	colon:	n/a
16	chr1:159919350-159919400	HRCEpiC	kidney:	n/a
17	chr1:159919350-159919400	AG04449	skin:	fetal
18	chr1:159919350-159919400	HEEpiC	esophagus:	n/a
19	chr1:159919350-159919400	IMR90	lung:	fetal
20	chr1:159919350-159919400	GM19239	blood:	n/a
21	chr1:159919350-159919400	ovcar-3	ovarian:	n/a
22	chr1:159919350-159919400	HUVEC	blood vessel:	n/a
23	chr1:159919350-159919400	SK-N-SH	brain:	n/a
24	chr1:159919350-159919400	SK-N-MC	brain:	n/a
25	chr1:159919350-159919400	PrEC	prostate:	n/a
26	chr1:159919350-159919400	NHBE	bronchial:	n/a
27	chr1:159919350-159919400	HepG2	liver:	n/a
28	chr1:159919350-159919400	GM12878	blood:	n/a
29	chr1:159919350-159919400	BJ	skin:	n/a
30	chr1:159919350-159919400	GM12891	blood:	n/a
31	chr1:159919350-159919400	SAEC	small airway:	n/a
32	chr1:159919350-159919400	NT2-D1	testis:	n/a
33	chr1:159919350-159919400	HNPCEpiC	eye:	n/a
34	chr1:159919350-159919400	ProgFib	skin:	n/a
35	chr1:159919350-159919400	AG09309	skin:	n/a
36	chr1:159919350-159919400	NH-A	brain:	n/a
37	chr1:159919350-159919400	T-47D	breast:	n/a
38	chr1:159919350-159919400	PFSK-1	brain:	n/a
39	chr1:159919350-159919400	GM06990	blood:	n/a
40	chr1:159919350-159919400	SKMC	muscle:	n/a
41	chr1:159919350-159919400	Caco-2	colon:	n/a
42	chr1:159919350-159919400	HCM	heart:	n/a
43	chr1:159919350-159919400	A549	lung:	n/a
44	chr1:159919350-159919400	HEK293	kidney:	embryo
45	chr1:159919350-159919400	AoSMC	blood vessel:	n/a
46	chr1:159919350-159919400	HIPEpiC	eye:	n/a
47	chr1:159919350-159919400	HRE	kidney:	n/a
48	chr1:159919350-159919400	HMEC	breast:	n/a
49	chr1:159919350-159919400	HCPEpiC	choroid plexus:	n/a
50	chr1:159919350-159919400	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:159906196..159907844-chr1:159918689..159920496,2	K562	blood:
2	chr1:159914087..159917108-chr1:159918737..159921842,4	K562	blood:
3	chr1:159912050..159914185-chr1:159918859..159921422,2	MCF-7	breast:

No data

Variant related genes	Relation type
IGSF9	TF binding region
IGSF9	CpG island
ENSG00000085552	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv548055	chr1:159918418-159940000	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159915800-159919600	Weak transcription	Lung	lung
2	chr1:159916200-159919800	Enhancers	Fetal Intestine Small	intestine
3	chr1:159916200-159920000	Enhancers	Stomach Mucosa	stomach
4	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
5	chr1:159916600-159919600	Weak transcription	Colonic Mucosa	Colon
6	chr1:159916600-159920800	Weak transcription	Fetal Lung	lung
7	chr1:159916800-159923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:159917000-159919800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:159917000-159923400	Weak transcription	NHEK	skin
10	chr1:159917600-159919800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:159918000-159919800	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:159918200-159919800	Enhancers	Fetal Intestine Large	intestine
13	chr1:159918600-159920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:159918600-159920000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:159918600-159920400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:159918600-159921400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:159918800-159919400	Enhancers	Placenta	Placenta
18	chr1:159918800-159919400	Enhancers	K562	blood
19	chr1:159918800-159919600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:159918800-159919600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:159918800-159919600	Enhancers	Pancreas	Pancrea
22	chr1:159918800-159919800	Enhancers	Esophagus	oesophagus
23	chr1:159919000-159919600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:159919000-159920000	Enhancers	Fetal Stomach	stomach
25	chr1:159919200-159919400	Enhancers	A549	lung
26	chr1:159919200-159919400	Enhancers	HMEC	breast
27	chr1:159919200-159919800	Weak transcription	Gastric	stomach
28	chr1:159919200-159920200	Enhancers	Primary monocytes fromperipheralblood	blood

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