Variant report

Variant	rs7141656
Chromosome Location	chr14:21199101-21199102
allele	C/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: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	chr14:21199099-21199149	HRE	kidney:	n/a
2	chr14:21199099-21199149	NT2-D1	testis:	n/a
3	chr14:21199099-21199149	HNPCEpiC	eye:	n/a
4	chr14:21199099-21199149	HEK293	kidney:	embryo
5	chr14:21199099-21199149	NH-A	brain:	n/a
6	chr14:21199099-21199149	HMEC	breast:	n/a
7	chr14:21199099-21199149	GM12892	blood:	n/a
8	chr14:21199099-21199149	Hela-S3	cervix:	n/a
9	chr14:21199099-21199149	NB4	blood:	n/a
10	chr14:21199099-21199149	K562	blood:	n/a
11	chr14:21199099-21199149	Jurkat	blood:	n/a
12	chr14:21199099-21199149	T-47D	breast:	n/a
13	chr14:21199099-21199149	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:21199099-21199149	ECC-1	luminal epithelium:	n/a
15	chr14:21199099-21199149	BJ	skin:	n/a
16	chr14:21199099-21199149	NHBE	bronchial:	n/a
17	chr14:21199099-21199149	A549	lung:	n/a
18	chr14:21199099-21199149	HCF	heart:	n/a
19	chr14:21199099-21199149	LNCaP	prostate:	n/a
20	chr14:21199099-21199149	AG10803	skin:	n/a
21	chr14:21199099-21199149	SK-N-SH	brain:	n/a
22	chr14:21199099-21199149	ovcar-3	ovarian:	n/a
23	chr14:21199099-21199149	SAEC	small airway:	n/a
24	chr14:21199099-21199149	HAEpiC	amniotic membrane:	n/a
25	chr14:21199099-21199149	PrEC	prostate:	n/a
26	chr14:21199099-21199149	GM12878	blood:	n/a
27	chr14:21199099-21199149	AG09309	skin:	n/a
28	chr14:21199099-21199149	H1-hESC	embryonic stem cell:	embryo
29	chr14:21199099-21199149	HCM	heart:	n/a
30	chr14:21199099-21199149	RPTEC	kidney:	n/a
31	chr14:21199099-21199149	IMR90	lung:	fetal
32	chr14:21199099-21199149	Hepatocyte	liver:	n/a
33	chr14:21199099-21199149	MCF-7	breast:	n/a
34	chr14:21199099-21199149	NHDF-neo	bronchial:	n/a
35	chr14:21199099-21199149	AoSMC	blood vessel:	n/a
36	chr14:21199099-21199149	HCT-116	colon:	n/a
37	chr14:21199099-21199149	HEEpiC	esophagus:	n/a
38	chr14:21199099-21199149	PFSK-1	brain:	n/a
39	chr14:21199099-21199149	HepG2	liver:	n/a
40	chr14:21199099-21199149	SK-N-SH_RA	brain:	n/a
41	chr14:21199099-21199149	HL-60	blood:	n/a
42	chr14:21199099-21199149	HUVEC	blood vessel:	n/a
43	chr14:21199099-21199149	HCPEpiC	choroid plexus:	n/a
44	chr14:21199099-21199149	SKMC	muscle:	n/a
45	chr14:21199099-21199149	U87	brain:	n/a
46	chr14:21199099-21199149	AG09319	gingival:	n/a
47	chr14:21199099-21199149	SK-N-MC	brain:	n/a
48	chr14:21199099-21199149	GM19239	blood:	n/a
49	chr14:21199099-21199149	HRPEpiC	eye:	n/a
50	chr14:21199099-21199149	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21187061..21189567-chr14:21198375..21200452,2	K562	blood:
2	chr14:21192360..21195343-chr14:21197458..21200150,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258963	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10135243	0.98[ASN][1000 genomes]
rs11156644	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12892436	0.80[EUR][1000 genomes]
rs1815436	0.94[ASN][1000 genomes]
rs2012838	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319444	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2873977	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144568	1.00[ASN][1000 genomes]
rs55882524	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56214359	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571363	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571364	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7141775	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7141852	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7143445	0.88[AFR][1000 genomes]
rs7157189	0.88[AFR][1000 genomes]
rs8003578	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8008064	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8010496	0.82[ASN][1000 genomes]
rs8010867	1.00[ASN][1000 genomes]
rs8012716	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8013177	0.83[ASN][1000 genomes]
rs8013276	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8023192	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr14:21189600-21201600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21192800-21201400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:21195400-21209400	Weak transcription	Gastric	stomach
4	chr14:21196800-21199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:21198800-21199800	Enhancers	Fetal Heart	heart
6	chr14:21199000-21199800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:21199000-21199800	Enhancers	K562	blood
8	chr14:21199000-21203800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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