Variant report

Variant	rs6013764
Chromosome Location	chr20:52324214-52324215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52323357..52326317-chr20:55802474..55805033,2	MCF-7	breast:
2	chr1:152430033..152432133-chr20:52323430..52325035,2	MCF-7	breast:
3	chr20:52322599..52324679-chr20:52324906..52327941,3	K562	blood:
4	chr20:45987979..45990815-chr20:52322755..52325178,2	MCF-7	breast:
5	chr17:57921539..57923649-chr20:52322579..52325134,2	MCF-7	breast:
6	chr20:52324037..52324585-chr8:127396031..127396531,2	MCF-7	breast:
7	chr1:149222497..149224579-chr20:52322721..52324757,2	MCF-7	breast:
8	chr1:121483530..121485362-chr20:52323535..52325139,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10854193	0.82[ASN][1000 genomes]
rs11086434	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11086435	0.86[ASN][1000 genomes]
rs6022681	0.89[EUR][1000 genomes]
rs6022682	0.94[ASN][1000 genomes]
rs7263723	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
5	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
8	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52309400-52324800	Weak transcription	Spleen	Spleen
2	chr20:52316200-52330400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:52319600-52328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:52321400-52326600	Enhancers	Fetal Thymus	thymus
5	chr20:52322200-52324800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr20:52322200-52325200	Enhancers	Fetal Muscle Leg	muscle
7	chr20:52322200-52325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:52322400-52324600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr20:52322400-52324600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr20:52322400-52324800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr20:52322400-52325200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:52322400-52326400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:52322400-52326600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr20:52322400-52327000	Enhancers	Primary B cells from peripheral blood	blood
15	chr20:52322600-52324400	Enhancers	NHLF	lung
16	chr20:52322600-52324400	Enhancers	Osteobl	bone
17	chr20:52322600-52324600	Enhancers	Primary B cells from cord blood	blood
18	chr20:52322600-52324600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr20:52322600-52324600	Enhancers	NH-A	brain
20	chr20:52322600-52324600	Enhancers	NHDF-Ad	bronchial
21	chr20:52322600-52324800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:52322600-52324800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr20:52322600-52324800	Enhancers	Fetal Lung	lung
24	chr20:52322600-52325000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:52322600-52325000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:52322600-52325000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:52322600-52325000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:52322600-52325000	Enhancers	Adipose Nuclei	Adipose
29	chr20:52322600-52325200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:52322600-52325200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:52322600-52325200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:52322600-52325200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr20:52322600-52325200	Enhancers	Fetal Kidney	kidney
34	chr20:52322600-52325200	Flanking Active TSS	GM12878-XiMat	blood
35	chr20:52322600-52325200	Enhancers	HSMMtube	muscle
36	chr20:52322600-52325600	Enhancers	HSMM	muscle
37	chr20:52322600-52325800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:52322600-52325800	Enhancers	HepG2	liver
39	chr20:52322800-52324400	Weak transcription	Placenta	Placenta
40	chr20:52322800-52324800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr20:52322800-52324800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:52322800-52325200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr20:52322800-52325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:52322800-52325200	Enhancers	Fetal Stomach	stomach
45	chr20:52323000-52324400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr20:52323000-52324800	Enhancers	Brain Substantia Nigra	brain
47	chr20:52323000-52325200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr20:52323000-52326200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:52323200-52324400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:52323200-52324400	Enhancers	Fetal Brain Male	brain

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