Variant report

Variant	rs6151670
Chromosome Location	chr5:79983215-79983216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79949259..79950803-chr5:79982555..79984836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17205503	0.95[EUR][1000 genomes]
rs245392	0.96[CEU][hapmap];0.83[YRI][hapmap]
rs28059	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs33008	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[YRI][hapmap]
rs6151604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6151629	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6151651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6151653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6861850	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887400	0.84[ASN][1000 genomes]
rs73129108	0.88[AFR][1000 genomes]
rs73132417	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7712332	0.81[CHB][hapmap];0.84[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6151670	DHFR	cis	Muscle Skeletal	GTEx
rs6151670	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
2	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:79956400-80015600	Weak transcription	Psoas Muscle	Psoas
5	chr5:79958200-79998000	Weak transcription	Fetal Brain Male	brain
6	chr5:79962800-80015600	Weak transcription	A549	lung
7	chr5:79963600-80038600	Weak transcription	Right Ventricle	heart
8	chr5:79964000-79984600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:79964000-79984800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:79964000-79998000	Weak transcription	Aorta	Aorta
11	chr5:79964400-79999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:79964800-79998000	Weak transcription	Gastric	stomach
13	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:79965000-80021400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:79969400-80001200	Weak transcription	NHLF	lung
16	chr5:79969600-80010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:79969800-79997000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:79970400-79997000	Weak transcription	K562	blood
19	chr5:79971600-79989800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:79971600-79999400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:79971600-80022200	Weak transcription	HMEC	breast
22	chr5:79971800-79999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:79971800-80003400	Weak transcription	NHDF-Ad	bronchial
24	chr5:79971800-80015400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:79972400-79999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:79972400-80010400	Weak transcription	NHEK	skin
28	chr5:79972400-80037000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:79972800-80001600	Weak transcription	HUVEC	blood vessel
30	chr5:79973200-80021600	Weak transcription	NH-A	brain
31	chr5:79973400-80008800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:79974000-80003000	Weak transcription	Fetal Heart	heart
33	chr5:79974000-80021200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:79975000-79998000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:79975200-80022800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:79975600-80015200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:79975600-80022000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:79975800-79992000	Weak transcription	Fetal Lung	lung
39	chr5:79975800-79997000	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:79975800-80002800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:79975800-80004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:79975800-80007000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:79975800-80008800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:79975800-80009200	Weak transcription	Pancreas	Pancrea
45	chr5:79975800-80015600	Weak transcription	Brain Substantia Nigra	brain
46	chr5:79975800-80015800	Weak transcription	Fetal Brain Female	brain
47	chr5:79976000-79985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:79976000-79985600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:79976000-79985600	Weak transcription	Fetal Stomach	stomach
50	chr5:79976000-79985800	Weak transcription	Fetal Intestine Small	intestine

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