Variant report

Variant	rs145122484
Chromosome Location	chr1:209404895-209404896
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209404846-209404896	HCF	heart:	n/a
2	chr1:209404846-209404896	CMK	blood:	n/a
3	chr1:209404846-209404896	BJ	skin:	n/a
4	chr1:209404846-209404896	Hela-S3	cervix:	n/a
5	chr1:209404846-209404896	ECC-1	luminal epithelium:	n/a
6	chr1:209404846-209404896	K562	blood:	n/a
7	chr1:209404846-209404896	U87	brain:	n/a
8	chr1:209404846-209404896	A549	lung:	n/a
9	chr1:209404846-209404896	HEK293	kidney:	embryo
10	chr1:209404846-209404896	HEEpiC	esophagus:	n/a
11	chr1:209404846-209404896	AoSMC	blood vessel:	n/a
12	chr1:209404846-209404896	HRPEpiC	eye:	n/a
13	chr1:209404846-209404896	AG04449	skin:	fetal
14	chr1:209404846-209404896	MCF10A-Er-Src	breast:	n/a
15	chr1:209404846-209404896	LNCaP	prostate:	n/a
16	chr1:209404846-209404896	SK-N-SH_RA	brain:	n/a
17	chr1:209404846-209404896	PANC-1	pancreas:	n/a
18	chr1:209404846-209404896	HRE	kidney:	n/a
19	chr1:209404846-209404896	HCPEpiC	choroid plexus:	n/a
20	chr1:209404846-209404896	HCM	heart:	n/a
21	chr1:209404846-209404896	HAEpiC	amniotic membrane:	n/a
22	chr1:209404846-209404896	AG09319	gingival:	n/a
23	chr1:209404846-209404896	BE2_C	brain:	n/a
24	chr1:209404846-209404896	GM12892	blood:	n/a
25	chr1:209404846-209404896	SKMC	muscle:	n/a
26	chr1:209404846-209404896	T-47D	breast:	n/a
27	chr1:209404846-209404896	SK-N-SH	brain:	n/a
28	chr1:209404846-209404896	PrEC	prostate:	n/a
29	chr1:209404846-209404896	RPTEC	kidney:	n/a
30	chr1:209404846-209404896	AG09309	skin:	n/a
31	chr1:209404846-209404896	MCF-7	breast:	n/a
32	chr1:209404846-209404896	SAEC	small airway:	n/a
33	chr1:209404846-209404896	PFSK-1	brain:	n/a
34	chr1:209404846-209404896	NH-A	brain:	n/a
35	chr1:209404846-209404896	NB4	blood:	n/a
36	chr1:209404846-209404896	AG04450	lung:	fetal
37	chr1:209404846-209404896	HUVEC	blood vessel:	n/a
38	chr1:209404846-209404896	H1-hESC	embryonic stem cell:	embryo
39	chr1:209404846-209404896	GM19239	blood:	n/a
40	chr1:209404846-209404896	NT2-D1	testis:	n/a
41	chr1:209404846-209404896	HNPCEpiC	eye:	n/a
42	chr1:209404846-209404896	Hepatocyte	liver:	n/a
43	chr1:209404846-209404896	HCT-116	colon:	n/a
44	chr1:209404846-209404896	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:209404846-209404896	HIPEpiC	eye:	n/a
46	chr1:209404846-209404896	HMEC	breast:	n/a
47	chr1:209404846-209404896	HRCEpiC	kidney:	n/a
48	chr1:209404846-209404896	Caco-2	colon:	n/a
49	chr1:209404846-209404896	NHBE	bronchial:	n/a
50	chr1:209404846-209404896	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209403276..209405119-chr1:209607404..209609101,2	MCF-7	breast:
2	chr1:209403047..209404912-chr1:209429099..209430969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224540	CpG island

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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3439351	chr1:209404154-209406702	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209404400-209409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209404800-209405000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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