Variant report

Variant	rs245403
Chromosome Location	chr5:80069930-80069931
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	chr5:80067813..80071581-chr5:80076574..80078808,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1650723	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1650734	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1650735	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1650736	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs184967	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs245394	0.82[EUR][1000 genomes]
rs245399	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245400	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs26266	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26268	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26283	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs27365	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28026	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs32958	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs32994	0.85[EUR][1000 genomes]
rs32998	0.82[EUR][1000 genomes]
rs33000	0.82[EUR][1000 genomes]
rs33009	0.92[EUR][1000 genomes]
rs33010	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs33012	0.96[EUR][1000 genomes]
rs39628	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs42290	0.96[EUR][1000 genomes]
rs6151616	0.91[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs6151759	0.82[YRI][hapmap]
rs7726620	0.82[YRI][hapmap]
rs836790	0.91[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs245403	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL
rs245403	MSH3	cis	cerebellum	SCAN
rs245403	MSH3	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:80039200-80075800	Weak transcription	HepG2	liver
5	chr5:80040200-80073800	Weak transcription	Hela-S3	cervix
6	chr5:80041200-80076000	Weak transcription	Small Intestine	intestine
7	chr5:80041200-80100400	Weak transcription	Gastric	stomach
8	chr5:80041800-80094200	Weak transcription	NHLF	lung
9	chr5:80042200-80075800	Weak transcription	A549	lung
10	chr5:80042800-80073400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:80042800-80074800	Weak transcription	Fetal Stomach	stomach
12	chr5:80042800-80089200	Weak transcription	Brain Substantia Nigra	brain
13	chr5:80042800-80118200	Weak transcription	Spleen	Spleen
14	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
15	chr5:80043000-80073600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:80043000-80075600	Weak transcription	Ovary	ovary
17	chr5:80043200-80075800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:80043400-80076200	Weak transcription	HUVEC	blood vessel
19	chr5:80043600-80089000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:80044000-80096400	Weak transcription	Brain Anterior Caudate	brain
21	chr5:80044400-80073600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:80048800-80088000	Weak transcription	Fetal Kidney	kidney
23	chr5:80049400-80089000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:80049600-80077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:80049800-80088800	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:80051000-80078600	Weak transcription	NHDF-Ad	bronchial
27	chr5:80051200-80073600	Weak transcription	Left Ventricle	heart
28	chr5:80051200-80075000	Weak transcription	Osteobl	bone
29	chr5:80051200-80077000	Weak transcription	NH-A	brain
30	chr5:80051200-80084000	Weak transcription	Thymus	Thymus
31	chr5:80051400-80071800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:80051400-80073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:80051600-80075800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:80051600-80088600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:80051600-80088800	Weak transcription	Colonic Mucosa	Colon
36	chr5:80051600-80095000	Weak transcription	Psoas Muscle	Psoas
37	chr5:80051800-80075000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:80051800-80089000	Weak transcription	HSMMtube	muscle
39	chr5:80052200-80095600	Weak transcription	Fetal Brain Male	brain
40	chr5:80052400-80075600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:80052400-80075800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:80052400-80085400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:80052800-80072200	Weak transcription	GM12878-XiMat	blood
44	chr5:80053000-80075800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:80053000-80088600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:80054200-80073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:80056600-80075000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:80056800-80089000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:80057000-80085600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:80057200-80073200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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