Variant report

Variant	rs1191715
Chromosome Location	chr11:65792794-65792795
allele	C/T
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:8)
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	BHLHE40	chr11:65792622-65792860	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65792781-65792831	AG09309	skin:	n/a
2	chr11:65792781-65792831	NHDF-neo	bronchial:	n/a
3	chr11:65792781-65792831	ProgFib	skin:	n/a
4	chr11:65792781-65792831	HRE	kidney:	n/a
5	chr11:65792781-65792831	AoSMC	blood vessel:	n/a
6	chr11:65792781-65792831	Hela-S3	cervix:	n/a
7	chr11:65792781-65792831	HCPEpiC	choroid plexus:	n/a
8	chr11:65792781-65792831	HEEpiC	esophagus:	n/a
9	chr11:65792781-65792831	NB4	blood:	n/a
10	chr11:65792781-65792831	HUVEC	blood vessel:	n/a
11	chr11:65792781-65792831	PrEC	prostate:	n/a
12	chr11:65792781-65792831	PFSK-1	brain:	n/a
13	chr11:65792781-65792831	SAEC	small airway:	n/a
14	chr11:65792781-65792831	HNPCEpiC	eye:	n/a
15	chr11:65792781-65792831	NT2-D1	testis:	n/a
16	chr11:65792781-65792831	BE2_C	brain:	n/a
17	chr11:65792781-65792831	H1-hESC	embryonic stem cell:	embryo
18	chr11:65792781-65792831	PANC-1	pancreas:	n/a
19	chr11:65792781-65792831	MCF10A-Er-Src	breast:	n/a
20	chr11:65792781-65792831	HCF	heart:	n/a
21	chr11:65792781-65792831	HMEC	breast:	n/a
22	chr11:65792781-65792831	HAEpiC	amniotic membrane:	n/a
23	chr11:65792781-65792831	HCT-116	colon:	n/a
24	chr11:65792781-65792831	GM19239	blood:	n/a
25	chr11:65792781-65792831	U87	brain:	n/a
26	chr11:65792781-65792831	GM12892	blood:	n/a
27	chr11:65792781-65792831	CMK	blood:	n/a
28	chr11:65792781-65792831	ECC-1	luminal epithelium:	n/a
29	chr11:65792781-65792831	SKMC	muscle:	n/a
30	chr11:65792781-65792831	HepG2	liver:	n/a
31	chr11:65792781-65792831	T-47D	breast:	n/a
32	chr11:65792781-65792831	A549	lung:	n/a
33	chr11:65792781-65792831	NHBE	bronchial:	n/a
34	chr11:65792781-65792831	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:65792781-65792831	GM06990	blood:	n/a
36	chr11:65792781-65792831	SK-N-SH	brain:	n/a
37	chr11:65792781-65792831	RPTEC	kidney:	n/a
38	chr11:65792781-65792831	NH-A	brain:	n/a
39	chr11:65792781-65792831	AG09319	gingival:	n/a
40	chr11:65792781-65792831	HRPEpiC	eye:	n/a
41	chr11:65792781-65792831	AG04450	lung:	fetal
42	chr11:65792781-65792831	GM12891	blood:	n/a
43	chr11:65792781-65792831	GM12878	blood:	n/a
44	chr11:65792781-65792831	HIPEpiC	eye:	n/a
45	chr11:65792781-65792831	HEK293	kidney:	embryo
46	chr11:65792781-65792831	IMR90	lung:	fetal
47	chr11:65792781-65792831	HCM	heart:	n/a
48	chr11:65792781-65792831	AG10803	skin:	n/a
49	chr11:65792781-65792831	ovcar-3	ovarian:	n/a
50	chr11:65792781-65792831	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:65791225..65793923-chr11:65817959..65820856,2	K562	blood:
2	chr11:65791115..65793279-chr11:65800928..65803391,2	MCF-7	breast:
3	chr11:65788506..65790955-chr11:65792237..65795353,3	MCF-7	breast:
4	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
5	chr11:65657179..65659552-chr11:65792099..65795097,2	MCF-7	breast:
6	chr11:65790800..65793677-chr11:65804088..65806843,2	MCF-7	breast:
7	chr11:65792176..65796965-chr11:65812595..65817477,5	MCF-7	breast:
8	chr11:65778738..65782540-chr11:65791690..65794306,3	MCF-7	breast:

No data

Variant related genes	Relation type
CATSPER1	TF binding region
CATSPER1	CpG island
ENSG00000175229	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000238752	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1143916	1.00[AMR][1000 genomes]
rs1144796	1.00[AMR][1000 genomes]
rs1151508	1.00[AMR][1000 genomes]
rs1151532	0.96[AFR][1000 genomes]
rs1190945	0.88[AFR][1000 genomes]
rs1190946	0.82[AFR][1000 genomes]
rs1201503	1.00[AMR][1000 genomes]
rs1203551	0.88[AFR][1000 genomes]
rs1203552	0.88[AFR][1000 genomes]
rs1203749	0.96[AFR][1000 genomes]
rs1203750	0.96[AFR][1000 genomes]
rs1203799	1.00[AMR][1000 genomes]
rs1203801	0.96[AFR][1000 genomes]
rs1630638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1783562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430981	0.86[AFR][1000 genomes]
rs2452687	0.96[AFR][1000 genomes]
rs3016315	0.81[AFR][1000 genomes]
rs3017606	0.85[AFR][1000 genomes]
rs471709	0.92[AFR][1000 genomes]
rs472853	0.96[AFR][1000 genomes]
rs475817	0.96[AFR][1000 genomes]
rs477001	0.96[AFR][1000 genomes]
rs485547	0.89[AFR][1000 genomes]
rs4930332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502898	0.86[AFR][1000 genomes]
rs504456	0.96[AFR][1000 genomes]
rs505412	0.88[AFR][1000 genomes]
rs505642	0.96[AFR][1000 genomes]
rs512316	0.88[AFR][1000 genomes]
rs515778	0.88[AFR][1000 genomes]
rs519911	0.96[AFR][1000 genomes]
rs527279	0.96[AFR][1000 genomes]
rs532265	0.83[AFR][1000 genomes]
rs547282	0.96[AFR][1000 genomes]
rs547892	0.96[AFR][1000 genomes]
rs549228	0.96[AFR][1000 genomes]
rs551652	0.96[AFR][1000 genomes]
rs555826	0.81[AFR][1000 genomes]
rs560105	0.96[AFR][1000 genomes]
rs560983	0.80[AFR][1000 genomes]
rs561199	0.96[AFR][1000 genomes]
rs561869	0.96[AFR][1000 genomes]
rs567414	0.96[AFR][1000 genomes]
rs568423	0.96[AFR][1000 genomes]
rs571368	0.88[AFR][1000 genomes]
rs572697	0.88[AFR][1000 genomes]
rs577301	0.96[AFR][1000 genomes]
rs581247	0.88[AFR][1000 genomes]
rs59973646	1.00[AMR][1000 genomes]
rs6591196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693382	0.96[AFR][1000 genomes]
rs73498471	1.00[AMR][1000 genomes]
rs7934588	0.92[AFR][1000 genomes]
rs7947668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
2	chr11:65790000-65800800	Weak transcription	HSMMtube	muscle
3	chr11:65790400-65812600	Weak transcription	Right Atrium	heart
4	chr11:65790400-65818600	Weak transcription	HSMM	muscle
5	chr11:65792600-65793000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:65792600-65793200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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