Variant report

Variant	rs6033866
Chromosome Location	chr20:13977742-13977743
allele	A/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:1)
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	chr20:13977717-13977767	PANC-1	pancreas:	n/a
2	chr20:13977717-13977767	HAEpiC	amniotic membrane:	n/a
3	chr20:13977717-13977767	SK-N-SH	brain:	n/a
4	chr20:13977717-13977767	HEK293	kidney:	embryo
5	chr20:13977717-13977767	Caco-2	colon:	n/a
6	chr20:13977717-13977767	K562	blood:	n/a
7	chr20:13977717-13977767	PrEC	prostate:	n/a
8	chr20:13977717-13977767	AG09309	skin:	n/a
9	chr20:13977717-13977767	AG04450	lung:	fetal
10	chr20:13977717-13977767	ECC-1	luminal epithelium:	n/a
11	chr20:13977717-13977767	Hela-S3	cervix:	n/a
12	chr20:13977717-13977767	SAEC	small airway:	n/a
13	chr20:13977717-13977767	HNPCEpiC	eye:	n/a
14	chr20:13977717-13977767	HRCEpiC	kidney:	n/a
15	chr20:13977717-13977767	NHBE	bronchial:	n/a
16	chr20:13977717-13977767	SK-N-MC	brain:	n/a
17	chr20:13977717-13977767	IMR90	lung:	fetal
18	chr20:13977717-13977767	BJ	skin:	n/a
19	chr20:13977717-13977767	NB4	blood:	n/a
20	chr20:13977717-13977767	GM06990	blood:	n/a
21	chr20:13977717-13977767	T-47D	breast:	n/a
22	chr20:13977717-13977767	BE2_C	brain:	n/a
23	chr20:13977717-13977767	GM12878	blood:	n/a
24	chr20:13977717-13977767	H1-hESC	embryonic stem cell:	embryo
25	chr20:13977717-13977767	HIPEpiC	eye:	n/a
26	chr20:13977717-13977767	HRE	kidney:	n/a
27	chr20:13977717-13977767	ovcar-3	ovarian:	n/a
28	chr20:13977717-13977767	HCT-116	colon:	n/a
29	chr20:13977717-13977767	HEEpiC	esophagus:	n/a
30	chr20:13977717-13977767	RPTEC	kidney:	n/a
31	chr20:13977717-13977767	GM12892	blood:	n/a
32	chr20:13977717-13977767	GM12891	blood:	n/a
33	chr20:13977717-13977767	PFSK-1	brain:	n/a
34	chr20:13977717-13977767	HRPEpiC	eye:	n/a
35	chr20:13977717-13977767	HPAEpiC	pulmonary alveolar:	n/a
36	chr20:13977717-13977767	CMK	blood:	n/a
37	chr20:13977717-13977767	SKMC	muscle:	n/a
38	chr20:13977717-13977767	HCPEpiC	choroid plexus:	n/a
39	chr20:13977717-13977767	NH-A	brain:	n/a
40	chr20:13977717-13977767	NHDF-neo	bronchial:	n/a
41	chr20:13977717-13977767	NT2-D1	testis:	n/a
42	chr20:13977717-13977767	HUVEC	blood vessel:	n/a
43	chr20:13977717-13977767	Jurkat	blood:	n/a
44	chr20:13977717-13977767	AoSMC	blood vessel:	n/a
45	chr20:13977717-13977767	MCF10A-Er-Src	breast:	n/a
46	chr20:13977717-13977767	HCM	heart:	n/a
47	chr20:13977717-13977767	HepG2	liver:	n/a
48	chr20:13977717-13977767	HCF	heart:	n/a
49	chr20:13977717-13977767	AG10803	skin:	n/a
50	chr20:13977717-13977767	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13974971..13978198-chr20:13980702..13984432,4	MCF-7	breast:

No data

Variant related genes	Relation type
SEL1L2	CpG island
ENSG00000230935	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs6033895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033899	1.00[AMR][1000 genomes]
rs6042472	1.00[AMR][1000 genomes]
rs6042477	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042526	1.00[AMR][1000 genomes]
rs6042551	1.00[AMR][1000 genomes]
rs6042557	1.00[AMR][1000 genomes]
rs6042579	1.00[AMR][1000 genomes]
rs6042586	1.00[AMR][1000 genomes]
rs73255017	1.00[AMR][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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3343462	chr20:13974977-13977925	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13975200-13978000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:13977000-13986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:13977200-13977800	Active TSS	Fetal Brain Female	brain
4	chr20:13977200-13984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:13977400-13977800	Enhancers	Stomach Mucosa	stomach
6	chr20:13977400-13983800	Weak transcription	Ovary	ovary
7	chr20:13977400-13985800	Weak transcription	Fetal Stomach	stomach
8	chr20:13977400-13996200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:13977600-13977800	Enhancers	Brain Hippocampus Middle	brain
10	chr20:13977600-13977800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr20:13977600-13977800	Enhancers	Brain Substantia Nigra	brain
12	chr20:13977600-13977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr20:13977600-13977800	Enhancers	Fetal Brain Male	brain
14	chr20:13977600-13977800	Enhancers	Fetal Intestine Large	intestine
15	chr20:13977600-13977800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:13977600-13978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:13977600-13978400	Active TSS	Brain Anterior Caudate	brain
18	chr20:13977600-13982800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:13977600-13986200	Weak transcription	Fetal Intestine Small	intestine

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