Variant report

Variant	rs1360686
Chromosome Location	chr9:101823327-101823328
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	chr9:100746335..100748761-chr9:101822195..101824561,2	K562	blood:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1413297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413298	0.82[CEU][hapmap]
rs2067986	1.00[LWK][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	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1360686	C9orf3	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101793800-101837600	Weak transcription	Psoas Muscle	Psoas
2	chr9:101807000-101831800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr9:101807600-101831800	Strong transcription	Fetal Muscle Leg	muscle
4	chr9:101813200-101833000	Weak transcription	Lung	lung
5	chr9:101813600-101825600	Weak transcription	Aorta	Aorta
6	chr9:101814200-101826600	Weak transcription	Fetal Intestine Large	intestine
7	chr9:101814200-101829400	Weak transcription	Fetal Intestine Small	intestine
8	chr9:101816200-101844200	Weak transcription	Gastric	stomach
9	chr9:101818000-101834800	Weak transcription	Pancreas	Pancrea
10	chr9:101818800-101823600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:101818800-101829000	Weak transcription	Ovary	ovary
12	chr9:101819800-101823400	Strong transcription	Fetal Stomach	stomach
13	chr9:101820200-101831000	Weak transcription	Colonic Mucosa	Colon
14	chr9:101820400-101828000	Weak transcription	Right Atrium	heart
15	chr9:101820800-101823400	Enhancers	Primary B cells from peripheral blood	blood
16	chr9:101820800-101828000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:101821200-101824200	Weak transcription	HSMMtube	muscle
18	chr9:101821200-101825600	Weak transcription	Right Ventricle	heart
19	chr9:101821800-101823400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:101821800-101824200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr9:101821800-101824800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:101821800-101827600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:101821800-101828400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:101821800-101829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:101821800-101834800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr9:101822000-101823600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr9:101822000-101823600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr9:101822000-101834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:101822200-101823600	Enhancers	Primary B cells from cord blood	blood
30	chr9:101822200-101823600	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:101822200-101823600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr9:101822200-101823600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr9:101822200-101823600	Weak transcription	Stomach Mucosa	stomach
34	chr9:101822200-101824400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:101822200-101827000	Strong transcription	Colon Smooth Muscle	Colon
36	chr9:101822200-101828000	Weak transcription	HSMM	muscle
37	chr9:101822200-101829000	Weak transcription	Left Ventricle	heart
38	chr9:101822200-101832800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:101822400-101823400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:101822400-101823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:101822400-101823600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:101822400-101823600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:101822400-101824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:101822400-101824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:101822400-101825800	Strong transcription	Adipose Nuclei	Adipose
46	chr9:101822400-101826800	Weak transcription	GM12878-XiMat	blood
47	chr9:101822400-101828400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:101822400-101832400	Weak transcription	NHDF-Ad	bronchial
49	chr9:101822400-101837600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:101822400-101838600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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