Variant report

Variant	rs11612089
Chromosome Location	chr12:119557349-119557350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr12:119557335-119557762	HEK293-T-REx	kidney:	n/a	chr12:119557560-119557581

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:119557318-119557368	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:119557318-119557368	SK-N-SH_RA	brain:	n/a
3	chr12:119557318-119557368	SK-N-SH	brain:	n/a
4	chr12:119557318-119557368	HRPEpiC	eye:	n/a
5	chr12:119557318-119557368	HL-60	blood:	n/a
6	chr12:119557318-119557368	AG09319	gingival:	n/a
7	chr12:119557318-119557368	GM12892	blood:	n/a
8	chr12:119557318-119557368	NH-A	brain:	n/a
9	chr12:119557318-119557368	Jurkat	blood:	n/a
10	chr12:119557318-119557368	CMK	blood:	n/a
11	chr12:119557318-119557368	Hela-S3	cervix:	n/a
12	chr12:119557318-119557368	K562	blood:	n/a
13	chr12:119557318-119557368	H1-hESC	embryonic stem cell:	embryo
14	chr12:119557318-119557368	SKMC	muscle:	n/a
15	chr12:119557318-119557368	HIPEpiC	eye:	n/a
16	chr12:119557318-119557368	PFSK-1	brain:	n/a
17	chr12:119557318-119557368	BE2_C	brain:	n/a
18	chr12:119557318-119557368	SAEC	small airway:	n/a
19	chr12:119557318-119557368	Caco-2	colon:	n/a
20	chr12:119557318-119557368	ECC-1	luminal epithelium:	n/a
21	chr12:119557318-119557368	HEK293	kidney:	embryo
22	chr12:119557318-119557368	HCM	heart:	n/a
23	chr12:119557318-119557368	MCF10A-Er-Src	breast:	n/a
24	chr12:119557318-119557368	MCF-7	breast:	n/a
25	chr12:119557318-119557368	GM19239	blood:	n/a
26	chr12:119557318-119557368	PANC-1	pancreas:	n/a
27	chr12:119557318-119557368	AoSMC	blood vessel:	n/a
28	chr12:119557318-119557368	T-47D	breast:	n/a
29	chr12:119557318-119557368	AG04450	lung:	fetal
30	chr12:119557318-119557368	HEEpiC	esophagus:	n/a
31	chr12:119557318-119557368	HAEpiC	amniotic membrane:	n/a
32	chr12:119557318-119557368	BJ	skin:	n/a
33	chr12:119557318-119557368	HCT-116	colon:	n/a
34	chr12:119557318-119557368	IMR90	lung:	fetal
35	chr12:119557318-119557368	NT2-D1	testis:	n/a
36	chr12:119557318-119557368	NHBE	bronchial:	n/a
37	chr12:119557318-119557368	LNCaP	prostate:	n/a
38	chr12:119557318-119557368	HRE	kidney:	n/a
39	chr12:119557318-119557368	HCPEpiC	choroid plexus:	n/a
40	chr12:119557318-119557368	Hepatocyte	liver:	n/a
41	chr12:119557318-119557368	RPTEC	kidney:	n/a
42	chr12:119557318-119557368	GM12878	blood:	n/a
43	chr12:119557318-119557368	A549	lung:	n/a
44	chr12:119557318-119557368	GM12891	blood:	n/a
45	chr12:119557318-119557368	HepG2	liver:	n/a
46	chr12:119557318-119557368	HMEC	breast:	n/a
47	chr12:119557318-119557368	NHDF-neo	bronchial:	n/a
48	chr12:119557318-119557368	PrEC	prostate:	n/a
49	chr12:119557318-119557368	AG09309	skin:	n/a
50	chr12:119557318-119557368	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:
2	chr12:119552092..119553800-chr12:119555501..119557752,2	K562	blood:

No data

Variant related genes	Relation type
SRRM4	TF binding region
ENSG00000257095	TF binding region
ENSG00000257095	CpG island
SRRM4	CpG island
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11609302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609322	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11609646	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11609710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11610259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11611821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611822	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611908	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11613120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11613980	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11613998	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11614188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614415	1.00[ASN][1000 genomes]
rs11615966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28799973	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28858405	1.00[ASN][1000 genomes]
rs28875796	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34067101	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915081	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35641235	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850732	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035046	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766927	1.00[ASN][1000 genomes]
rs4766928	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766929	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766930	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766931	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4767775	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767776	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767778	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767779	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4767780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67353211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382838	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135298	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7295542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315034	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211886	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73211887	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213716	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73213717	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213719	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213721	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213730	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213731	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213738	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213749	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213751	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73213758	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv455725	chr12:119532430-119558565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv560395	chr12:119532430-119558565	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:119535200-119568800	Weak transcription	Fetal Brain Male	brain
2	chr12:119547800-119557400	Weak transcription	Pancreas	Pancrea
3	chr12:119553400-119557600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:119553600-119567600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:119553800-119558800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:119553800-119569000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:119554200-119557600	Strong transcription	Fetal Brain Female	brain
8	chr12:119555800-119559000	Strong transcription	Brain Germinal Matrix	brain
9	chr12:119556200-119557600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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