Variant report

Variant	rs17312067
Chromosome Location	chr20:52840240-52840241
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52838977..52840544-chr20:52845330..52847377,2	K562	blood:
2	chr20:52838765..52840477-chr20:52844593..52846830,2	K562	blood:
3	chr20:52840058..52843007-chr20:53284448..53286480,2	MCF-7	breast:
4	chr20:52839394..52842266-chr3:64681661..64683712,2	MCF-7	breast:
5	chr20:52835069..52840886-chr20:53069895..53074543,8	MCF-7	breast:
6	chr20:52830354..52840699-chr20:53260794..53267992,26	MCF-7	breast:
7	chr20:52835744..52843522-chr20:52881395..52889377,15	MCF-7	breast:
8	chr20:45988897..45990443-chr20:52838117..52840797,2	MCF-7	breast:
9	chr20:52837337..52840650-chr20:52960350..52963395,3	MCF-7	breast:
10	chr20:52838493..52841252-chr20:52870452..52872363,2	MCF-7	breast:
11	chr20:52838614..52841427-chr20:52933611..52935858,2	MCF-7	breast:
12	chr20:52836483..52840611-chr20:52882316..52886295,8	MCF-7	breast:

No data

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1293129	0.91[EUR][1000 genomes]
rs1293131	0.91[EUR][1000 genomes]
rs56894192	0.98[EUR][1000 genomes]
rs58311082	0.98[EUR][1000 genomes]
rs59112455	0.87[EUR][1000 genomes]
rs59763311	0.98[EUR][1000 genomes]
rs59783244	0.88[EUR][1000 genomes]
rs6097873	0.98[EUR][1000 genomes]
rs6097877	0.95[EUR][1000 genomes]
rs6127151	0.98[EUR][1000 genomes]
rs6512949	0.93[EUR][1000 genomes]
rs73914309	1.00[EUR][1000 genomes]
rs73914345	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52827200-52841000	Weak transcription	Brain Germinal Matrix	brain
2	chr20:52829400-52847400	Weak transcription	Aorta	Aorta
3	chr20:52829600-52847600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:52831400-52842200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr20:52833000-52845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52834200-52840800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr20:52834200-52841000	Weak transcription	Primary B cells from cord blood	blood
8	chr20:52834200-52841200	Weak transcription	Spleen	Spleen
9	chr20:52834200-52843600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr20:52834600-52840600	Weak transcription	Lung	lung
11	chr20:52834600-52840600	Weak transcription	Thymus	Thymus
12	chr20:52834600-52843600	Weak transcription	GM12878-XiMat	blood
13	chr20:52834600-52845200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52834600-52845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr20:52834600-52845200	Weak transcription	NHEK	skin
16	chr20:52835600-52845800	Weak transcription	HSMM	muscle
17	chr20:52835600-52846000	Weak transcription	HSMMtube	muscle
18	chr20:52837200-52840800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:52837400-52842200	Weak transcription	Dnd41	blood
20	chr20:52837600-52841000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:52837800-52840800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:52837800-52841000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:52838000-52841000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr20:52838200-52840400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr20:52838200-52840600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:52838400-52841000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:52838600-52846000	Weak transcription	Fetal Muscle Leg	muscle
28	chr20:52838800-52840600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr20:52838800-52840800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr20:52839200-52842200	Weak transcription	HepG2	liver
31	chr20:52839200-52843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr20:52839400-52841600	Weak transcription	Fetal Stomach	stomach
33	chr20:52839600-52840800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr20:52839600-52845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:52840000-52841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr20:52840200-52840400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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