Variant report

Variant	rs12446461
Chromosome Location	chr16:71479445-71479446
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: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	chr16:71479409-71479459	HL-60	blood:	n/a
2	chr16:71479409-71479459	PrEC	prostate:	n/a
3	chr16:71479409-71479459	RPTEC	kidney:	n/a
4	chr16:71479409-71479459	HUVEC	blood vessel:	n/a
5	chr16:71479409-71479459	MCF10A-Er-Src	breast:	n/a
6	chr16:71479409-71479459	HPAEpiC	pulmonary alveolar:	n/a
7	chr16:71479409-71479459	HCF	heart:	n/a
8	chr16:71479409-71479459	NHDF-neo	bronchial:	n/a
9	chr16:71479409-71479459	GM19239	blood:	n/a
10	chr16:71479409-71479459	CMK	blood:	n/a
11	chr16:71479409-71479459	SKMC	muscle:	n/a
12	chr16:71479409-71479459	NHBE	bronchial:	n/a
13	chr16:71479409-71479459	SK-N-MC	brain:	n/a
14	chr16:71479409-71479459	K562	blood:	n/a
15	chr16:71479409-71479459	LNCaP	prostate:	n/a
16	chr16:71479409-71479459	AG09309	skin:	n/a
17	chr16:71479409-71479459	GM12891	blood:	n/a
18	chr16:71479409-71479459	AG04450	lung:	fetal
19	chr16:71479409-71479459	HNPCEpiC	eye:	n/a
20	chr16:71479409-71479459	ProgFib	skin:	n/a
21	chr16:71479409-71479459	HMEC	breast:	n/a
22	chr16:71479409-71479459	ECC-1	luminal epithelium:	n/a
23	chr16:71479409-71479459	AG04449	skin:	fetal
24	chr16:71479409-71479459	HRCEpiC	kidney:	n/a
25	chr16:71479409-71479459	HEEpiC	esophagus:	n/a
26	chr16:71479409-71479459	HEK293	kidney:	embryo
27	chr16:71479409-71479459	HepG2	liver:	n/a
28	chr16:71479409-71479459	HCM	heart:	n/a
29	chr16:71479409-71479459	Hela-S3	cervix:	n/a
30	chr16:71479409-71479459	ovcar-3	ovarian:	n/a
31	chr16:71479409-71479459	U87	brain:	n/a
32	chr16:71479409-71479459	Jurkat	blood:	n/a
33	chr16:71479409-71479459	HCT-116	colon:	n/a
34	chr16:71479409-71479459	SK-N-SH	brain:	n/a
35	chr16:71479409-71479459	SAEC	small airway:	n/a
36	chr16:71479409-71479459	H1-hESC	embryonic stem cell:	embryo
37	chr16:71479409-71479459	HAEpiC	amniotic membrane:	n/a
38	chr16:71479409-71479459	HIPEpiC	eye:	n/a
39	chr16:71479409-71479459	SK-N-SH_RA	brain:	n/a
40	chr16:71479409-71479459	BE2_C	brain:	n/a
41	chr16:71479409-71479459	NB4	blood:	n/a
42	chr16:71479409-71479459	T-47D	breast:	n/a
43	chr16:71479409-71479459	A549	lung:	n/a
44	chr16:71479409-71479459	BJ	skin:	n/a
45	chr16:71479409-71479459	HCPEpiC	choroid plexus:	n/a
46	chr16:71479409-71479459	PANC-1	pancreas:	n/a
47	chr16:71479409-71479459	PFSK-1	brain:	n/a
48	chr16:71479409-71479459	GM06990	blood:	n/a
49	chr16:71479409-71479459	IMR90	lung:	fetal
50	chr16:71479409-71479459	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:71478885..71480600-chr16:71492072..71493651,2	K562	blood:
2	chr16:71474535..71476293-chr16:71477936..71479872,2	MCF-7	breast:
3	chr16:71477364..71480165-chr16:71494025..71496473,2	K562	blood:
4	chr16:71477849..71480634-chr16:71486623..71488977,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000262008	CpG island
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10500558	0.84[ASN][1000 genomes]
rs11640165	0.84[ASN][1000 genomes]
rs11641492	0.84[ASN][1000 genomes]
rs11643101	0.81[CHB][hapmap]
rs11643216	0.84[ASN][1000 genomes]
rs11644434	0.94[CHB][hapmap]
rs11647749	0.84[ASN][1000 genomes]
rs13331346	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1609868	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs1609869	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs16972708	0.83[YRI][hapmap]
rs2004672	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070832	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288486	0.82[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2288487	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288488	0.87[ASN][1000 genomes]
rs2288489	0.91[YRI][hapmap]
rs2303788	0.88[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs28372238	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs310334	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35373081	0.84[ASN][1000 genomes]
rs3813743	0.88[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3892120	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4149498	0.88[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4503795	0.86[ASN][1000 genomes]
rs4620964	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58134724	0.87[ASN][1000 genomes]
rs58719913	0.84[ASN][1000 genomes]
rs6499523	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs7184543	0.88[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7186241	0.84[ASN][1000 genomes]
rs7187165	0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7187354	0.83[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7188342	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7192986	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7199026	0.88[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7199373	0.87[ASN][1000 genomes]
rs7200431	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7202662	0.88[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7202953	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs730470	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs732318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74026831	0.84[ASN][1000 genomes]
rs74027246	0.84[ASN][1000 genomes]
rs8044068	0.83[ASN][1000 genomes]
rs8044561	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8051212	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053662	0.84[ASN][1000 genomes]
rs8058294	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs8058776	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8061078	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9302623	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9926110	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9928243	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9933680	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs9935426	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs9936249	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940771	0.84[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71475000-71479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71476800-71482000	Weak transcription	HepG2	liver
3	chr16:71478200-71482200	Weak transcription	Fetal Heart	heart
4	chr16:71478200-71487800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:71478400-71480600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:71478400-71481000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:71478600-71482000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:71479000-71482200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver

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