Variant report

Variant	rs554213587
Chromosome Location	chr16:12012148-12012149
allele	A/T
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:4)
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	chr16:12012117-12012167	Jurkat	blood:	n/a
2	chr16:12012117-12012167	HepG2	liver:	n/a
3	chr16:12012117-12012167	SKMC	muscle:	n/a
4	chr16:12012117-12012167	AG09319	gingival:	n/a
5	chr16:12012117-12012167	K562	blood:	n/a
6	chr16:12012117-12012167	PFSK-1	brain:	n/a
7	chr16:12012117-12012167	U87	brain:	n/a
8	chr16:12012117-12012167	BE2_C	brain:	n/a
9	chr16:12012117-12012167	AG10803	skin:	n/a
10	chr16:12012117-12012167	BJ	skin:	n/a
11	chr16:12012117-12012167	HCT-116	colon:	n/a
12	chr16:12012117-12012167	HRCEpiC	kidney:	n/a
13	chr16:12012117-12012167	HIPEpiC	eye:	n/a
14	chr16:12012117-12012167	A549	lung:	n/a
15	chr16:12012117-12012167	T-47D	breast:	n/a
16	chr16:12012117-12012167	HCM	heart:	n/a
17	chr16:12012117-12012167	HEK293	kidney:	embryo
18	chr16:12012117-12012167	SK-N-SH_RA	brain:	n/a
19	chr16:12012117-12012167	HRPEpiC	eye:	n/a
20	chr16:12012117-12012167	HPAEpiC	pulmonary alveolar:	n/a
21	chr16:12012117-12012167	HEEpiC	esophagus:	n/a
22	chr16:12012117-12012167	GM12878	blood:	n/a
23	chr16:12012117-12012167	MCF10A-Er-Src	breast:	n/a
24	chr16:12012117-12012167	Hela-S3	cervix:	n/a
25	chr16:12012117-12012167	ProgFib	skin:	n/a
26	chr16:12012117-12012167	GM12892	blood:	n/a
27	chr16:12012117-12012167	IMR90	lung:	fetal
28	chr16:12012117-12012167	GM06990	blood:	n/a
29	chr16:12012117-12012167	HL-60	blood:	n/a
30	chr16:12012117-12012167	NHDF-neo	bronchial:	n/a
31	chr16:12012117-12012167	Caco-2	colon:	n/a
32	chr16:12012117-12012167	CMK	blood:	n/a
33	chr16:12012117-12012167	HCPEpiC	choroid plexus:	n/a
34	chr16:12012117-12012167	ovcar-3	ovarian:	n/a
35	chr16:12012117-12012167	SK-N-MC	brain:	n/a
36	chr16:12012117-12012167	PANC-1	pancreas:	n/a
37	chr16:12012117-12012167	LNCaP	prostate:	n/a
38	chr16:12012117-12012167	RPTEC	kidney:	n/a
39	chr16:12012117-12012167	GM19239	blood:	n/a
40	chr16:12012117-12012167	AG04450	lung:	fetal
41	chr16:12012117-12012167	ECC-1	luminal epithelium:	n/a
42	chr16:12012117-12012167	NHBE	bronchial:	n/a
43	chr16:12012117-12012167	HNPCEpiC	eye:	n/a
44	chr16:12012117-12012167	NT2-D1	testis:	n/a
45	chr16:12012117-12012167	HMEC	breast:	n/a
46	chr16:12012117-12012167	AG09309	skin:	n/a
47	chr16:12012117-12012167	SAEC	small airway:	n/a
48	chr16:12012117-12012167	HRE	kidney:	n/a
49	chr16:12012117-12012167	NH-A	brain:	n/a
50	chr16:12012117-12012167	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
2	chr16:12012124..12014555-chr16:12045355..12047902,2	K562	blood:
3	chr16:12010494..12013016-chr16:12016316..12019639,3	MCF-7	breast:
4	chr16:12010691..12013114-chr16:12155698..12158691,2	MCF-7	breast:

No data

Variant related genes	Relation type
GSPT1	CpG island
ENSG00000266163	CpG island
ENSG00000260488	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000048471	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv974848	chr16:12005053-12020022	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv524025	chr16:12009781-12016919	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3379697	chr16:12011449-12049700	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12011200-12012400	Weak transcription	A549	lung
2	chr16:12011200-12012400	Weak transcription	Hela-S3	cervix
3	chr16:12011600-12014600	Weak transcription	HepG2	liver
4	chr16:12012000-12012200	Enhancers	Placenta	Placenta

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