Variant report

Variant	rs17613746
Chromosome Location	chr4:100863290-100863291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100851997..100854259-chr4:100861223..100863842,2	K562	blood:
2	chr4:100849849..100851641-chr4:100861198..100863933,2	K562	blood:
3	chr4:100858344..100860711-chr4:100861423..100864092,3	K562	blood:
4	chr4:100814171..100817089-chr4:100860805..100863486,3	K562	blood:
5	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:

Variant related genes	Relation type
ENSG00000109270	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10516459	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12431	0.90[EUR][1000 genomes]
rs15924	1.00[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs17539582	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17539883	0.90[EUR][1000 genomes]
rs17541426	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17541690	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17614270	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2866181	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41275723	0.93[EUR][1000 genomes]
rs62305041	0.88[EUR][1000 genomes]
rs62305046	0.93[EUR][1000 genomes]
rs62305049	0.80[EUR][1000 genomes]
rs62305052	0.93[EUR][1000 genomes]
rs62305053	0.93[EUR][1000 genomes]
rs62305055	0.93[EUR][1000 genomes]
rs62305056	0.93[EUR][1000 genomes]
rs62305057	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62305059	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62306060	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62306061	0.83[EUR][1000 genomes]
rs62306063	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62306064	0.87[EUR][1000 genomes]
rs62306066	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306068	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306069	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306070	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306071	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62306072	0.85[EUR][1000 genomes]
rs62306073	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62306075	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306084	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306085	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306111	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306113	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62306115	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62306136	0.85[AMR][1000 genomes]
rs767652	0.89[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.90[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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	esv1801295	chr4:100856441-100864204	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17613746	CBR3	trans	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
8	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:100840200-100865800	Weak transcription	Ovary	ovary
12	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:100840200-100867000	Weak transcription	Gastric	stomach
14	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
16	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
17	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
18	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
19	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:100850400-100864800	Weak transcription	HUVEC	blood vessel
22	chr4:100852000-100865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:100852200-100866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:100852400-100863400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:100855800-100864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:100855800-100866000	Weak transcription	Colonic Mucosa	Colon
27	chr4:100856200-100866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:100856800-100863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:100856800-100864000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:100856800-100865400	Weak transcription	Brain Angular Gyrus	brain
31	chr4:100856800-100866000	Weak transcription	Fetal Brain Male	brain
32	chr4:100856800-100866200	Weak transcription	NH-A	brain
33	chr4:100857000-100864200	Weak transcription	HepG2	liver
34	chr4:100857000-100864400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:100857000-100864800	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:100857000-100866000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:100857000-100866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:100857200-100866200	Weak transcription	Thymus	Thymus
39	chr4:100857200-100866200	Weak transcription	Spleen	Spleen
40	chr4:100857600-100864200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:100857600-100864200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:100857800-100864400	Weak transcription	NHEK	skin
43	chr4:100857800-100865400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:100857800-100866000	Weak transcription	Fetal Kidney	kidney
45	chr4:100857800-100866000	Weak transcription	NHLF	lung
46	chr4:100857800-100866200	Weak transcription	HMEC	breast
47	chr4:100857800-100866400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:100858000-100864800	Weak transcription	Adipose Nuclei	Adipose
49	chr4:100858000-100865400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:100858000-100866000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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