Variant report

Variant	rs911258
Chromosome Location	chr14:68771450-68771451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68770678..68778907-chr14:69255944..69264299,32	MCF-7	breast:
2	chr14:68758837..68760910-chr14:68771179..68773357,2	MCF-7	breast:
3	chr14:68764415..68769564-chr14:68770855..68774967,6	MCF-7	breast:
4	chr14:68718999..68725813-chr14:68770906..68776082,15	MCF-7	breast:
5	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
6	chr14:68771399..68773960-chr14:68910018..68913627,3	MCF-7	breast:
7	chr14:68406746..68408855-chr14:68770868..68773760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10083393	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10131654	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135678	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10136039	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10144669	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483807	0.86[CHB][hapmap]
rs11158730	0.86[CHB][hapmap]
rs11621881	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12878858	0.95[CHB][hapmap]
rs12880109	0.86[CHB][hapmap]
rs12892777	0.95[CHB][hapmap]
rs1956523	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1956525	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1956526	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2013413	0.81[CHB][hapmap]
rs2064914	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2145422	0.87[JPT][hapmap]
rs2145423	0.86[JPT][hapmap]
rs3784106	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784110	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3784111	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3825730	0.95[CHB][hapmap]
rs4410007	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902566	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62635808	0.83[ASN][1000 genomes]
rs7144422	0.84[ASN][1000 genomes]
rs7146110	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7147852	0.86[JPT][hapmap]
rs7148073	0.95[CHB][hapmap]
rs7148322	0.95[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7148412	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149396	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7151629	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7493547	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013078	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013968	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022860	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs911254	0.86[CHB][hapmap]
rs911255	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs927220	0.95[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9323506	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9989152	1.00[CEU][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68760600-68773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:68762000-68773400	Weak transcription	Small Intestine	intestine
4	chr14:68763400-68772400	Weak transcription	Pancreas	Pancrea
5	chr14:68765000-68774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68767600-68776400	Weak transcription	Left Ventricle	heart
7	chr14:68768200-68772600	Weak transcription	Ovary	ovary
8	chr14:68769000-68773400	Weak transcription	Aorta	Aorta
9	chr14:68769000-68776400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68769200-68771800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:68769200-68773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:68769200-68774000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:68769200-68774200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:68769400-68772600	Weak transcription	Fetal Thymus	thymus
16	chr14:68770000-68773400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:68770200-68772400	Weak transcription	Fetal Intestine Large	intestine
18	chr14:68771000-68771600	Enhancers	Fetal Lung	lung
19	chr14:68771000-68771800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:68771000-68771800	Enhancers	Fetal Heart	heart
21	chr14:68771000-68771800	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:68771400-68771600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:68771400-68771600	Flanking Active TSS	GM12878-XiMat	blood
24	chr14:68771400-68773400	Weak transcription	Fetal Stomach	stomach
25	chr14:68771400-68773400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:68771400-68774200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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