Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65070348..65072828-chr14:65088281..65092413,3	MCF-7	breast:
2	chr14:64969660..64972098-chr14:65087061..65089730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

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

rs_ID	r²[population]
rs10151495	0.82[JPT][hapmap]
rs1040612	0.84[CHB][hapmap]
rs10498515	0.82[CHB][hapmap]
rs1256146	0.82[ASW][hapmap]
rs12589322	0.82[CHB][hapmap]
rs12886478	0.85[EUR][1000 genomes]
rs12894807	0.86[CHB][hapmap]
rs2038270	0.82[CHB][hapmap]
rs2218994	0.81[ASW][hapmap]
rs2602156	0.85[EUR][1000 genomes]
rs4899138	0.81[EUR][1000 genomes]
rs4902295	0.84[CHB][hapmap]
rs4902296	0.90[CHB][hapmap]
rs4902297	0.84[CHB][hapmap]
rs7148289	0.84[CHB][hapmap]
rs7149152	0.84[MEX][hapmap]
rs7159809	0.82[CHB][hapmap]
rs761547	0.84[CHB][hapmap]
rs8007313	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8016222	0.97[EUR][1000 genomes]
rs8017407	0.82[CHB][hapmap]
rs926802	0.82[CHB][hapmap]
rs9671381	0.82[CHB][hapmap]
rs971736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902299	FNTB	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65079600-65093800	Weak transcription	Right Atrium	heart
2	chr14:65081800-65091800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:65082000-65091800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:65085200-65092400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:65085800-65089400	Weak transcription	Spleen	Spleen
6	chr14:65086000-65090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:65086400-65090000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:65086400-65091800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:65086400-65091800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:65086400-65091800	Weak transcription	Stomach Mucosa	stomach
11	chr14:65086600-65090600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:65086600-65091800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:65086600-65092000	Weak transcription	A549	lung
14	chr14:65086600-65092000	Weak transcription	Hela-S3	cervix
15	chr14:65086800-65090000	Weak transcription	Esophagus	oesophagus
16	chr14:65086800-65092000	Weak transcription	Placenta	Placenta
17	chr14:65087200-65090800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:65088600-65089800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65088600-65090000	Weak transcription	NHEK	skin

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