Variant report

Variant	rs954277
Chromosome Location	chr3:141453530-141453531
allele	G/T
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:5)
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	POLR2A	chr3:141453444-141453721	HepG2	liver:	n/a	n/a
2	TEAD4	chr3:141453482-141454497	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141453514-141453564	HRPEpiC	eye:	n/a
2	chr3:141453514-141453564	SK-N-MC	brain:	n/a
3	chr3:141453514-141453564	AG10803	skin:	n/a
4	chr3:141453514-141453564	AG04449	skin:	fetal
5	chr3:141453514-141453564	AG04450	lung:	fetal
6	chr3:141453514-141453564	AG09309	skin:	n/a
7	chr3:141453514-141453564	PFSK-1	brain:	n/a
8	chr3:141453514-141453564	Hela-S3	cervix:	n/a
9	chr3:141453514-141453564	HIPEpiC	eye:	n/a
10	chr3:141453514-141453564	MCF-7	breast:	n/a
11	chr3:141453514-141453564	NB4	blood:	n/a
12	chr3:141453514-141453564	AoSMC	blood vessel:	n/a
13	chr3:141453514-141453564	HPAEpiC	pulmonary alveolar:	n/a
14	chr3:141453514-141453564	HNPCEpiC	eye:	n/a
15	chr3:141453514-141453564	GM06990	blood:	n/a
16	chr3:141453514-141453564	PANC-1	pancreas:	n/a
17	chr3:141453514-141453564	HUVEC	blood vessel:	n/a
18	chr3:141453514-141453564	HCT-116	colon:	n/a
19	chr3:141453514-141453564	MCF10A-Er-Src	breast:	n/a
20	chr3:141453514-141453564	ECC-1	luminal epithelium:	n/a
21	chr3:141453514-141453564	HAEpiC	amniotic membrane:	n/a
22	chr3:141453514-141453564	NHDF-neo	bronchial:	n/a
23	chr3:141453514-141453564	CMK	blood:	n/a
24	chr3:141453514-141453564	A549	lung:	n/a
25	chr3:141453514-141453564	GM12892	blood:	n/a
26	chr3:141453514-141453564	NT2-D1	testis:	n/a
27	chr3:141453514-141453564	GM19239	blood:	n/a
28	chr3:141453514-141453564	NH-A	brain:	n/a
29	chr3:141453514-141453564	HCM	heart:	n/a
30	chr3:141453514-141453564	RPTEC	kidney:	n/a
31	chr3:141453514-141453564	GM12891	blood:	n/a
32	chr3:141453514-141453564	LNCaP	prostate:	n/a
33	chr3:141453514-141453564	HEEpiC	esophagus:	n/a
34	chr3:141453514-141453564	HL-60	blood:	n/a
35	chr3:141453514-141453564	HEK293	kidney:	embryo
36	chr3:141453514-141453564	HCPEpiC	choroid plexus:	n/a
37	chr3:141453514-141453564	HCF	heart:	n/a
38	chr3:141453514-141453564	T-47D	breast:	n/a
39	chr3:141453514-141453564	K562	blood:	n/a
40	chr3:141453514-141453564	U87	brain:	n/a
41	chr3:141453514-141453564	SKMC	muscle:	n/a
42	chr3:141453514-141453564	HMEC	breast:	n/a
43	chr3:141453514-141453564	HRCEpiC	kidney:	n/a
44	chr3:141453514-141453564	SAEC	small airway:	n/a
45	chr3:141453514-141453564	HRE	kidney:	n/a
46	chr3:141453514-141453564	SK-N-SH_RA	brain:	n/a
47	chr3:141453514-141453564	H1-hESC	embryonic stem cell:	embryo
48	chr3:141453514-141453564	HepG2	liver:	n/a
49	chr3:141453514-141453564	BJ	skin:	n/a
50	chr3:141453514-141453564	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:
2	chr3:141448547..141453826-chr3:141453982..141458606,7	K562	blood:
3	chr3:141452889..141455273-chr3:141594959..141597402,2	K562	blood:
4	chr3:141452326..141454943-chr3:141456910..141459390,2	K562	blood:
5	chr3:141451573..141455398-chr3:141593572..141596886,4	MCF-7	breast:

No data

Variant related genes	Relation type
RNF7	TF binding region
RNF7	CpG island
ENSG00000114125	Chromatin interaction
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16851692	0.92[ASN][1000 genomes]
rs59077856	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59379866	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59538463	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73226649	0.95[ASN][1000 genomes]
rs73870344	0.81[AFR][1000 genomes]
rs73870346	0.81[AFR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv877552	chr3:141420562-141466147	Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141444800-141456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:141447800-141456600	Weak transcription	Fetal Intestine Large	intestine
3	chr3:141449800-141456600	Weak transcription	Stomach Mucosa	stomach
4	chr3:141451200-141456600	Weak transcription	Aorta	Aorta
5	chr3:141452200-141453800	Weak transcription	HepG2	liver
6	chr3:141452600-141453600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:141453400-141453600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:141453400-141456600	Enhancers	K562	blood

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