Variant report

Variant	rs11694581
Chromosome Location	chr2:128238166-128238167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127955337..127956037-chr2:128237940..128238875,2	K562	blood:
2	chr2:128235827..128238807-chr2:128287710..128289733,2	MCF-7	breast:
3	chr2:128080706..128082331-chr2:128236038..128238787,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10432384	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10460269	0.80[AMR][1000 genomes]
rs10928770	0.80[AMR][1000 genomes]
rs12463949	0.96[ASN][1000 genomes]
rs12464981	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12466957	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475191	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475389	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12476558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13026187	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864553	0.88[CEU][hapmap]
rs1968396	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2099209	0.85[MEX][hapmap]
rs2303947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590705	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs777556	0.88[CEU][hapmap]
rs873099	0.88[CEU][hapmap];0.85[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694581	ERCC3	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
3	chr2:128222800-128239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:128223800-128238400	Weak transcription	K562	blood
6	chr2:128224000-128241800	Weak transcription	Small Intestine	intestine
7	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
8	chr2:128227400-128238800	Weak transcription	Ovary	ovary
9	chr2:128227600-128239000	Weak transcription	NHEK	skin
10	chr2:128227800-128240000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:128227800-128240000	Weak transcription	Pancreas	Pancrea
12	chr2:128228000-128239400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
14	chr2:128229200-128238400	Weak transcription	NHDF-Ad	bronchial
15	chr2:128232600-128240000	Weak transcription	Fetal Brain Male	brain
16	chr2:128234000-128242600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:128235000-128240200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:128235200-128238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:128235200-128270000	Strong transcription	Dnd41	blood
20	chr2:128235600-128239000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:128235600-128239800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:128236400-128238800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:128237000-128238400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:128237200-128238600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:128237200-128242800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:128237200-128243400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:128237200-128244000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:128237400-128238200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:128237400-128239400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:128237400-128239800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:128237400-128241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:128237400-128243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:128237600-128238200	Genic enhancers	Fetal Intestine Small	intestine
36	chr2:128237600-128238400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:128237600-128238400	Strong transcription	Aorta	Aorta
38	chr2:128237600-128238800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:128237600-128239000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:128237600-128239000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:128237600-128239800	Weak transcription	Fetal Kidney	kidney
42	chr2:128237600-128240400	Strong transcription	Right Ventricle	heart
43	chr2:128237600-128240600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:128237600-128240600	Strong transcription	NHLF	lung
45	chr2:128237600-128240800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:128237600-128241000	Strong transcription	Gastric	stomach
47	chr2:128237600-128241000	Strong transcription	Spleen	Spleen
48	chr2:128237600-128241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:128237600-128242400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:128237600-128242400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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