Variant report

Variant	rs11784181
Chromosome Location	chr8:9479926-9479927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9478144..9480144-chr8:9497689..9499942,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10094343	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104247	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11249930	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11249943	0.93[MEX][hapmap]
rs12335065	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542420	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544673	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549064	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs28437757	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28464158	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28610188	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28615758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240630	0.80[AMR][1000 genomes]
rs4265191	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4416825	0.85[ASN][1000 genomes]
rs4427176	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4457339	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4481595	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4560795	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4562329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4573280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841178	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4841180	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841184	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4841200	0.85[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap]
rs62491543	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62491544	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62493907	0.86[ASN][1000 genomes]
rs62493909	0.82[ASN][1000 genomes]
rs62493910	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62493913	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601341	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6982215	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6996829	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006406	0.85[CEU][hapmap]
rs7464476	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814014	0.81[MEX][hapmap]
rs7821799	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7825818	0.85[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap]
rs7827278	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829326	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7833036	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11784181	DEFB136	cis	cerebellum	SCAN
rs11784181	DEFB134	cis	cerebellum	SCAN
rs11784181	TNKS	cis	parietal	SCAN
rs11784181	MFHAS1	cis	cerebellum	SCAN
rs11784181	PRSS55	cis	cerebellum	SCAN
rs11784181	BLK	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
4	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:9466400-9483200	Weak transcription	Liver	Liver
7	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:9471000-9487000	Weak transcription	HepG2	liver
11	chr8:9472400-9483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:9472800-9481200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:9472800-9484600	Weak transcription	Small Intestine	intestine
14	chr8:9473200-9483800	Weak transcription	NHDF-Ad	bronchial
15	chr8:9473200-9484600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:9473200-9486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:9473200-9489400	Weak transcription	HSMM	muscle
18	chr8:9473200-9490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:9473200-9491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:9473200-9491200	Weak transcription	HSMMtube	muscle
21	chr8:9473400-9490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:9473600-9480600	Weak transcription	Primary B cells from cord blood	blood
23	chr8:9474000-9484400	Weak transcription	Ovary	ovary
24	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:9474600-9480200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:9474600-9484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:9474600-9484400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:9474600-9485400	Weak transcription	Fetal Brain Female	brain
29	chr8:9474800-9480000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:9474800-9480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:9475400-9484400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:9476000-9480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:9478200-9480000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:9478200-9484000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:9478400-9484200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:9479000-9482200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:9479000-9482200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:9479000-9484400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:9479200-9484000	Weak transcription	Brain Angular Gyrus	brain
41	chr8:9479600-9481000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:9479800-9480000	Enhancers	Brain Substantia Nigra	brain
43	chr8:9479800-9480000	Enhancers	Psoas Muscle	Psoas
44	chr8:9479800-9480000	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:9479800-9480800	Enhancers	Dnd41	blood
46	chr8:9479800-9481000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:9479800-9481000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:9479800-9481200	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:9479800-9481200	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:9479800-9481200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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