Variant report

Variant	rs7494129
Chromosome Location	chr14:106095504-106095505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:106095111-106095600	U87	brain:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
2	REST	chr14:106095115-106095605	GM12878	blood:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
3	MYC	chr14:106095416-106095522	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr14:106095126-106095630	GM12878	blood:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
5	REST	chr14:106095205-106095596	HepG2	liver:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
6	REST	chr14:106094903-106095698	U87	brain:	n/a	chr14:106095326-106095339 chr14:106095624-106095637 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106094990-106095003 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
7	REST	chr14:106095200-106095519	Hela-S3	cervix:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
8	REST	chr14:106095075-106095722	PANC-1	pancreas:	n/a	chr14:106095326-106095339 chr14:106095624-106095637 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
9	REST	chr14:106095049-106095520	A549	lung:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
10	REST	chr14:106095204-106095512	SK-N-SH	brain:	n/a	chr14:106095326-106095339 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358
11	REST	chr14:106095039-106095683	GM12878	blood:	n/a	chr14:106095326-106095339 chr14:106095624-106095637 chr14:106095344-106095358 chr14:106095338-106095358 chr14:106095341-106095354 chr14:106095462-106095475 chr14:106095343-106095352 chr14:106095248-106095266 chr14:106095338-106095358

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:106095491-106095541	ProgFib	skin:	n/a
2	chr14:106095491-106095541	HAEpiC	amniotic membrane:	n/a
3	chr14:106095491-106095541	HMEC	breast:	n/a
4	chr14:106095491-106095541	HCT-116	colon:	n/a
5	chr14:106095491-106095541	GM06990	blood:	n/a
6	chr14:106095491-106095541	MCF10A-Er-Src	breast:	n/a
7	chr14:106095491-106095541	AG04449	skin:	fetal
8	chr14:106095491-106095541	HUVEC	blood vessel:	n/a
9	chr14:106095491-106095541	SKMC	muscle:	n/a
10	chr14:106095491-106095541	SK-N-MC	brain:	n/a
11	chr14:106095491-106095541	PANC-1	pancreas:	n/a
12	chr14:106095491-106095541	HL-60	blood:	n/a
13	chr14:106095491-106095541	BJ	skin:	n/a
14	chr14:106095491-106095541	HRPEpiC	eye:	n/a
15	chr14:106095491-106095541	PrEC	prostate:	n/a
16	chr14:106095491-106095541	NT2-D1	testis:	n/a
17	chr14:106095491-106095541	HNPCEpiC	eye:	n/a
18	chr14:106095491-106095541	Jurkat	blood:	n/a
19	chr14:106095491-106095541	GM19239	blood:	n/a
20	chr14:106095491-106095541	HepG2	liver:	n/a
21	chr14:106095491-106095541	Caco-2	colon:	n/a
22	chr14:106095491-106095541	BE2_C	brain:	n/a
23	chr14:106095491-106095541	AG04450	lung:	fetal
24	chr14:106095491-106095541	NH-A	brain:	n/a
25	chr14:106095491-106095541	AoSMC	blood vessel:	n/a
26	chr14:106095491-106095541	HCM	heart:	n/a
27	chr14:106095491-106095541	HEEpiC	esophagus:	n/a
28	chr14:106095491-106095541	HRCEpiC	kidney:	n/a
29	chr14:106095491-106095541	Hela-S3	cervix:	n/a
30	chr14:106095491-106095541	SK-N-SH	brain:	n/a
31	chr14:106095491-106095541	GM12891	blood:	n/a
32	chr14:106095491-106095541	LNCaP	prostate:	n/a
33	chr14:106095491-106095541	AG09319	gingival:	n/a
34	chr14:106095491-106095541	IMR90	lung:	fetal
35	chr14:106095491-106095541	ovcar-3	ovarian:	n/a
36	chr14:106095491-106095541	GM12892	blood:	n/a
37	chr14:106095491-106095541	Hepatocyte	liver:	n/a
38	chr14:106095491-106095541	NHDF-neo	bronchial:	n/a
39	chr14:106095491-106095541	U87	brain:	n/a
40	chr14:106095491-106095541	HCF	heart:	n/a
41	chr14:106095491-106095541	NHBE	bronchial:	n/a
42	chr14:106095491-106095541	K562	blood:	n/a
43	chr14:106095491-106095541	PFSK-1	brain:	n/a
44	chr14:106095491-106095541	AG09309	skin:	n/a
45	chr14:106095491-106095541	SK-N-SH_RA	brain:	n/a
46	chr14:106095491-106095541	NB4	blood:	n/a
47	chr14:106095491-106095541	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:106095491-106095541	HCPEpiC	choroid plexus:	n/a
49	chr14:106095491-106095541	CMK	blood:	n/a
50	chr14:106095491-106095541	HIPEpiC	eye:	n/a

Variant related genes	Relation type
IGHG4	TF binding region
IGHG4	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10137699	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11160857	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160858	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622374	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003803	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003804	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28572080	0.90[EUR][1000 genomes]
rs4983482	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61986375	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153753	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7154746	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7492292	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7494551	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7494643	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 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	chr14:106090000-106097200	Weak transcription	Esophagus	oesophagus
2	chr14:106093600-106098600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:106093800-106097600	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:106094200-106095600	Enhancers	Placenta	Placenta
5	chr14:106094600-106095600	Weak transcription	Lung	lung
6	chr14:106095000-106098400	Weak transcription	Liver	Liver
7	chr14:106095200-106096000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr14:106095400-106096200	Enhancers	Spleen	Spleen

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