Variant report

Variant	rs2811905
Chromosome Location	chr9:86243933-86243934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746718	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868045	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1413293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2780969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780977	0.83[EUR][1000 genomes]
rs2780978	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780981	0.80[EUR][1000 genomes]
rs2780982	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811899	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2811900	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811903	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2811906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811909	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2811912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2811919	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7018643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7874980	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No data

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	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:86239000-86244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:86239000-86244400	Weak transcription	HSMM	muscle
12	chr9:86239000-86244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:86239000-86244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:86239000-86245200	Weak transcription	Fetal Kidney	kidney
15	chr9:86239000-86245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
17	chr9:86239000-86264800	Weak transcription	HMEC	breast
18	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:86239200-86244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:86239200-86244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:86239200-86244000	Weak transcription	NHLF	lung
22	chr9:86239200-86244200	Weak transcription	Colonic Mucosa	Colon
23	chr9:86239200-86244400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:86239200-86244800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:86239200-86245800	Weak transcription	Brain Germinal Matrix	brain
26	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:86239400-86244000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:86239400-86244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:86239400-86245400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:86239400-86245800	Weak transcription	Fetal Heart	heart
31	chr9:86239400-86245800	Weak transcription	Fetal Lung	lung
32	chr9:86239400-86248000	Weak transcription	NHDF-Ad	bronchial
33	chr9:86239400-86254400	Weak transcription	Brain Anterior Caudate	brain
34	chr9:86239400-86254400	Weak transcription	Brain Substantia Nigra	brain
35	chr9:86239400-86266200	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:86239400-86266400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:86239600-86245600	Weak transcription	Brain Angular Gyrus	brain
38	chr9:86239600-86245600	Weak transcription	Fetal Brain Female	brain
39	chr9:86239600-86260800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr9:86239600-86260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:86239600-86265000	Weak transcription	HUVEC	blood vessel
42	chr9:86239600-86266600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:86239600-86272200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:86239800-86266800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:86240000-86246000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:86240200-86244800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr9:86240200-86265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr9:86240400-86244400	Weak transcription	Small Intestine	intestine
49	chr9:86240400-86254600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr9:86240600-86245800	Weak transcription	K562	blood

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