Variant report

Variant	rs4807
Chromosome Location	chr2:10930903-10930904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10927095..10928984-chr2:10930437..10933436,3	K562	blood:
2	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
3	chr2:10930748..10933243-chr2:10936511..10939337,3	K562	blood:
4	chr2:10919808..10922131-chr2:10929132..10931329,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10929699	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1106185	0.82[CEU][hapmap]
rs1686482	0.82[GIH][hapmap]
rs1686484	0.81[CHB][hapmap]
rs1686497	0.82[CEU][hapmap]
rs1686510	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs1686511	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734340	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs1734343	0.82[GIH][hapmap];0.82[MKK][hapmap]
rs1734344	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs1734426	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734427	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734433	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1734436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1734439	0.81[CHB][hapmap]
rs1734440	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1844386	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2008967	0.86[CEU][hapmap]
rs28652982	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2969881	0.87[ASN][1000 genomes]
rs2969882	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668695	0.92[ASN][1000 genomes]
rs57047222	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6750383	0.88[ASN][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	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv580968	chr2:10923268-10933249	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4807	RP11-791G15.2	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
4	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
5	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
10	chr2:10916800-10937400	Strong transcription	Lung	lung
11	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
13	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:10917200-10931000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:10917200-10931000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:10917200-10933400	Strong transcription	NHLF	lung
18	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
19	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
21	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
25	chr2:10917400-10941200	Strong transcription	Liver	Liver
26	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:10917600-10939200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:10917800-10937800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:10918000-10938200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr2:10918000-10942400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:10918000-10942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10918200-10931800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:10918200-10932800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:10918200-10933400	Strong transcription	Brain Cingulate Gyrus	brain
43	chr2:10918200-10934200	Strong transcription	Dnd41	blood
44	chr2:10918200-10937800	Strong transcription	Ovary	ovary
45	chr2:10918200-10938000	Strong transcription	Primary B cells from cord blood	blood
46	chr2:10918200-10942200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:10918200-10942600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:10918200-10943200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:10918400-10931800	Strong transcription	Aorta	Aorta
50	chr2:10918400-10943200	Strong transcription	HSMM	muscle

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