Variant report

Variant	rs2811907
Chromosome Location	chr9:86244359-86244360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86244110..86246714-chr9:86535414..86538304,2	K562	blood:
2	chr9:86238599..86242233-chr9:86242446..86245459,4	K562	blood:
3	chr9:86243220..86245781-chr9:86323093..86324779,2	MCF-7	breast:
4	chr9:86230729..86232939-chr9:86244046..86245933,2	K562	blood:
5	chr9:86210303..86212582-chr9:86243491..86245294,2	MCF-7	breast:
6	chr9:86229963..86232786-chr9:86243072..86244741,2	K562	blood:
7	chr9:86243566..86245560-chr9:86258572..86260267,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165115	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000199483	Chromatin interaction
ENSG00000135018	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1044214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1052690	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11792478	1.00[CHB][hapmap]
rs2780970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780971	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2780974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2780976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2780980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2781006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2781007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2781008	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2811908	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];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811914	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2811917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811918	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811920	0.94[ASN][1000 genomes]
rs72746853	0.94[ASN][1000 genomes]
rs9410586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9410882	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv516587	chr9:86226119-86255765	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv973848	chr9:86241130-86260149	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2811907	FAM75D5	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86238600-86265000	Weak transcription	Ovary	ovary
2	chr9:86238800-86244400	Weak transcription	Aorta	Aorta
3	chr9:86238800-86246000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:86238800-86246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:86238800-86254600	Weak transcription	Left Ventricle	heart
6	chr9:86238800-86260600	Weak transcription	Right Ventricle	heart
7	chr9:86238800-86264600	Weak transcription	Psoas Muscle	Psoas
8	chr9:86239000-86244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:86239000-86244400	Weak transcription	HSMM	muscle
10	chr9:86239000-86244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:86239000-86244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:86239000-86245200	Weak transcription	Fetal Kidney	kidney
13	chr9:86239000-86245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
15	chr9:86239000-86264800	Weak transcription	HMEC	breast
16	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:86239200-86244400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:86239200-86244800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:86239200-86245800	Weak transcription	Brain Germinal Matrix	brain
20	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:86239400-86244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:86239400-86245400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:86239400-86245800	Weak transcription	Fetal Heart	heart
24	chr9:86239400-86245800	Weak transcription	Fetal Lung	lung
25	chr9:86239400-86248000	Weak transcription	NHDF-Ad	bronchial
26	chr9:86239400-86254400	Weak transcription	Brain Anterior Caudate	brain
27	chr9:86239400-86254400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:86239400-86266200	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:86239400-86266400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:86239600-86245600	Weak transcription	Brain Angular Gyrus	brain
31	chr9:86239600-86245600	Weak transcription	Fetal Brain Female	brain
32	chr9:86239600-86260800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:86239600-86260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:86239600-86265000	Weak transcription	HUVEC	blood vessel
35	chr9:86239600-86266600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:86239600-86272200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr9:86239800-86266800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:86240000-86246000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:86240200-86244800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr9:86240200-86265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:86240400-86244400	Weak transcription	Small Intestine	intestine
42	chr9:86240400-86254600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr9:86240600-86245800	Weak transcription	K562	blood
44	chr9:86240800-86245000	Strong transcription	Fetal Muscle Leg	muscle
45	chr9:86241000-86244600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:86241000-86245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:86241200-86245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:86241400-86244800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:86241400-86245000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:86241400-86245000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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