Variant report

Variant	rs4813719
Chromosome Location	chr20:4797284-4797285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:4794840..4796651-chr20:4796825..4799356,2	K562	blood:

Variant related genes	Relation type
ENSG00000101265	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1076056	0.89[ASN][1000 genomes]
rs1104902	0.88[ASN][1000 genomes]
rs2246728	0.91[ASN][1000 genomes]
rs2246735	0.91[ASN][1000 genomes]
rs2326552	0.94[ASN][1000 genomes]
rs4141888	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4813719	SIRPB1	cis	parietal	SCAN
rs4813719	RASSF2	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:4779200-4797400	Weak transcription	A549	lung
2	chr20:4779200-4802800	Weak transcription	Aorta	Aorta
3	chr20:4782000-4801600	Weak transcription	Fetal Intestine Small	intestine
4	chr20:4783400-4800400	Weak transcription	Fetal Brain Male	brain
5	chr20:4789000-4801200	Weak transcription	Ovary	ovary
6	chr20:4790400-4801400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:4791200-4799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:4793000-4798200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:4794800-4801600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:4794800-4803000	Weak transcription	Small Intestine	intestine
11	chr20:4795200-4801400	Weak transcription	Fetal Lung	lung
12	chr20:4795200-4801600	Weak transcription	Stomach Mucosa	stomach
13	chr20:4795400-4802400	Weak transcription	Dnd41	blood
14	chr20:4795400-4802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:4795400-4802600	Weak transcription	Right Atrium	heart
16	chr20:4795600-4800200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr20:4795600-4801400	Weak transcription	Fetal Brain Female	brain
18	chr20:4795600-4801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr20:4795600-4802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr20:4795800-4802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr20:4796000-4800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:4796000-4802200	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr20:4796000-4802200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:4796200-4797400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:4796200-4798200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr20:4796200-4798200	Weak transcription	Placenta	Placenta
27	chr20:4796200-4799200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr20:4796200-4801400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr20:4796200-4801600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr20:4796200-4801600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr20:4796400-4798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:4796400-4798400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr20:4796400-4800000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr20:4796400-4800600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:4796400-4801200	Weak transcription	HUVEC	blood vessel
36	chr20:4796400-4801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr20:4796400-4802400	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr20:4796400-4803000	Weak transcription	Pancreas	Pancrea
39	chr20:4796600-4797400	Enhancers	GM12878-XiMat	blood
40	chr20:4796600-4797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:4796600-4798000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr20:4796600-4798200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:4796600-4798800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:4796600-4798800	Weak transcription	Spleen	Spleen
45	chr20:4796600-4799000	Weak transcription	Brain Substantia Nigra	brain
46	chr20:4796600-4799000	Weak transcription	Thymus	Thymus
47	chr20:4796600-4799400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr20:4796600-4799800	Weak transcription	Fetal Thymus	thymus
49	chr20:4796600-4800000	Weak transcription	Brain Angular Gyrus	brain
50	chr20:4796600-4800000	Genic enhancers	Monocytes-CD14+_RO01746	blood

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