Variant report

Variant	rs61904163
Chromosome Location	chr11:49580112-49580113
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:0)
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	POLR2A	chr11:49580011-49580175	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49580074-49580124	ovcar-3	ovarian:	n/a
2	chr11:49580074-49580124	HRCEpiC	kidney:	n/a
3	chr11:49580074-49580124	HCM	heart:	n/a
4	chr11:49580074-49580124	GM12878	blood:	n/a
5	chr11:49580074-49580124	AG09319	gingival:	n/a
6	chr11:49580074-49580124	HRPEpiC	eye:	n/a
7	chr11:49580074-49580124	AoSMC	blood vessel:	n/a
8	chr11:49580074-49580124	MCF10A-Er-Src	breast:	n/a
9	chr11:49580074-49580124	HepG2	liver:	n/a
10	chr11:49580074-49580124	Caco-2	colon:	n/a
11	chr11:49580074-49580124	HIPEpiC	eye:	n/a
12	chr11:49580074-49580124	AG04450	lung:	fetal
13	chr11:49580074-49580124	NB4	blood:	n/a
14	chr11:49580074-49580124	GM12892	blood:	n/a
15	chr11:49580074-49580124	HCF	heart:	n/a
16	chr11:49580074-49580124	SK-N-SH_RA	brain:	n/a
17	chr11:49580074-49580124	A549	lung:	n/a
18	chr11:49580074-49580124	CMK	blood:	n/a
19	chr11:49580074-49580124	ProgFib	skin:	n/a
20	chr11:49580074-49580124	RPTEC	kidney:	n/a
21	chr11:49580074-49580124	IMR90	lung:	fetal
22	chr11:49580074-49580124	NHDF-neo	bronchial:	n/a
23	chr11:49580074-49580124	HEK293	kidney:	embryo
24	chr11:49580074-49580124	AG10803	skin:	n/a
25	chr11:49580074-49580124	SK-N-MC	brain:	n/a
26	chr11:49580074-49580124	HRE	kidney:	n/a
27	chr11:49580074-49580124	HEEpiC	esophagus:	n/a
28	chr11:49580074-49580124	HCPEpiC	choroid plexus:	n/a
29	chr11:49580074-49580124	HAEpiC	amniotic membrane:	n/a
30	chr11:49580074-49580124	PFSK-1	brain:	n/a
31	chr11:49580074-49580124	U87	brain:	n/a
32	chr11:49580074-49580124	SAEC	small airway:	n/a
33	chr11:49580074-49580124	BJ	skin:	n/a
34	chr11:49580074-49580124	HL-60	blood:	n/a
35	chr11:49580074-49580124	GM12891	blood:	n/a
36	chr11:49580074-49580124	NHBE	bronchial:	n/a
37	chr11:49580074-49580124	PANC-1	pancreas:	n/a
38	chr11:49580074-49580124	T-47D	breast:	n/a
39	chr11:49580074-49580124	GM19239	blood:	n/a
40	chr11:49580074-49580124	GM06990	blood:	n/a
41	chr11:49580074-49580124	Jurkat	blood:	n/a
42	chr11:49580074-49580124	SK-N-SH	brain:	n/a
43	chr11:49580074-49580124	H1-hESC	embryonic stem cell:	embryo
44	chr11:49580074-49580124	SKMC	muscle:	n/a
45	chr11:49580074-49580124	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:49580074-49580124	PrEC	prostate:	n/a
47	chr11:49580074-49580124	LNCaP	prostate:	n/a
48	chr11:49580074-49580124	NT2-D1	testis:	n/a
49	chr11:49580074-49580124	Hepatocyte	liver:	n/a
50	chr11:49580074-49580124	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
ENSG00000205035	TF binding region
ENSG00000205035	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10501325	0.95[EUR][1000 genomes]
rs17472150	0.95[EUR][1000 genomes]
rs1851985	0.95[EUR][1000 genomes]
rs4085879	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56259899	0.91[EUR][1000 genomes]
rs61885338	0.95[EUR][1000 genomes]
rs61885339	0.91[EUR][1000 genomes]
rs61885340	0.95[EUR][1000 genomes]
rs61885341	0.95[EUR][1000 genomes]
rs61885342	0.95[EUR][1000 genomes]
rs61885343	0.95[EUR][1000 genomes]
rs61885344	0.91[EUR][1000 genomes]
rs61885355	0.93[EUR][1000 genomes]
rs61885356	0.95[EUR][1000 genomes]
rs61904162	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61904164	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61904167	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61904168	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7116574	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv897486	chr11:49373782-49688837	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897487	chr11:49390619-49610094	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv832146	chr11:49492949-49672305	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv897490	chr11:49498923-49620253	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv897491	chr11:49498923-50058422	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49579200-49581200	Active TSS	Brain Anterior Caudate	brain
2	chr11:49579800-49580200	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:49579800-49580200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr11:49579800-49580200	Enhancers	Pancreas	Pancrea
5	chr11:49579800-49580400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:49579800-49580400	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr11:49579800-49580600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:49579800-49581200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:49579800-49581200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:49579800-49581400	Active TSS	Brain Angular Gyrus	brain
11	chr11:49580000-49580400	Active TSS	Brain Germinal Matrix	brain

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