Variant report

Variant	rs13045004
Chromosome Location	chr20:4799805-4799806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr20:4799280-4800863	GM12878	blood:	n/a	chr20:4799358-4799367
2	SPI1	chr20:4799802-4800333	GM12878	blood:	n/a	chr20:4800067-4800076

Variant related genes	Relation type
RASSF2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1885306	0.81[EUR][1000 genomes]
rs1885308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281642	0.88[ASN][1000 genomes]
rs2326550	0.96[EUR][1000 genomes]
rs4813721	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7271897	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3373329	chr20:4082756-5007606	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530448	chr20:4575637-5030917	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv912628	chr20:4751487-4836440	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv912629	chr20:4751487-5183353	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:4779200-4802800	Weak transcription	Aorta	Aorta
2	chr20:4782000-4801600	Weak transcription	Fetal Intestine Small	intestine
3	chr20:4783400-4800400	Weak transcription	Fetal Brain Male	brain
4	chr20:4789000-4801200	Weak transcription	Ovary	ovary
5	chr20:4790400-4801400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:4794800-4801600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:4794800-4803000	Weak transcription	Small Intestine	intestine
8	chr20:4795200-4801400	Weak transcription	Fetal Lung	lung
9	chr20:4795200-4801600	Weak transcription	Stomach Mucosa	stomach
10	chr20:4795400-4802400	Weak transcription	Dnd41	blood
11	chr20:4795400-4802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:4795400-4802600	Weak transcription	Right Atrium	heart
13	chr20:4795600-4800200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:4795600-4801400	Weak transcription	Fetal Brain Female	brain
15	chr20:4795600-4801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr20:4795600-4802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr20:4795800-4802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr20:4796000-4800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:4796000-4802200	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr20:4796000-4802200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr20:4796200-4801400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:4796200-4801600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr20:4796200-4801600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr20:4796400-4800000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr20:4796400-4800600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr20:4796400-4801200	Weak transcription	HUVEC	blood vessel
27	chr20:4796400-4801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr20:4796400-4802400	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr20:4796400-4803000	Weak transcription	Pancreas	Pancrea
30	chr20:4796600-4800000	Weak transcription	Brain Angular Gyrus	brain
31	chr20:4796600-4800000	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr20:4796600-4800400	Weak transcription	Brain Hippocampus Middle	brain
33	chr20:4796600-4800400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr20:4796600-4800600	Weak transcription	Brain Anterior Caudate	brain
35	chr20:4796600-4800800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr20:4796600-4801400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr20:4796600-4801400	Weak transcription	Adipose Nuclei	Adipose
38	chr20:4796600-4801400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr20:4796600-4801400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr20:4796600-4801600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:4796600-4801800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr20:4796600-4802000	Weak transcription	Colonic Mucosa	Colon
43	chr20:4796600-4803000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr20:4796800-4800000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr20:4796800-4800000	Strong transcription	Fetal Muscle Leg	muscle
46	chr20:4796800-4800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr20:4796800-4801400	Genic enhancers	Primary B cells from cord blood	blood
48	chr20:4796800-4801400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr20:4796800-4801600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr20:4797000-4800000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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