Variant report

Variant	rs944460
Chromosome Location	chr14:64701456-64701457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
2	chr14:64701273..64703199-chr14:64731826..64734576,2	MCF-7	breast:
3	chr14:64701411..64702290-chr14:64764943..64765931,3	MCF-7	breast:
4	chr14:64690892..64693639-chr14:64700268..64702860,3	MCF-7	breast:
5	chr14:64682391..64683248-chr14:64701375..64702283,4	MCF-7	breast:
6	chr14:64682391..64682932-chr14:64701375..64701946,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11158526	1.00[CEU][hapmap]
rs11158529	1.00[CEU][hapmap]
rs1152580	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1152585	0.89[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1152596	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1152597	0.84[CHB][hapmap]
rs1152602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625778	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11628107	1.00[CEU][hapmap]
rs11629158	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12432035	1.00[CEU][hapmap]
rs12435492	1.00[CEU][hapmap]
rs1256027	0.89[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes]
rs1256032	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1256034	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1256049	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1256053	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1256055	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1256060	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256066	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1256104	0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs1256105	0.95[JPT][hapmap]
rs1256114	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs1256119	0.89[EUR][1000 genomes]
rs1256122	0.82[EUR][1000 genomes]
rs2357482	0.95[JPT][hapmap]
rs2776606	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899135	0.95[JPT][hapmap]
rs4902278	1.00[GIH][hapmap];0.95[JPT][hapmap]
rs7144437	1.00[GIH][hapmap];0.95[JPT][hapmap]
rs8015278	0.84[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap]
rs941697	0.82[EUR][1000 genomes]
rs944050	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs944052	0.85[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs944459	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs944461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs953592	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1050378	chr14:64686543-64703012	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv524908	chr14:64700045-64703593	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64688800-64710600	Weak transcription	Fetal Heart	heart
2	chr14:64689200-64705400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:64690200-64711200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:64695800-64705800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:64696000-64701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:64696000-64701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:64696000-64701800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:64696000-64702800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:64696000-64703400	Weak transcription	Gastric	stomach
10	chr14:64696000-64705600	Weak transcription	Fetal Lung	lung
11	chr14:64696000-64705800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:64696200-64702800	Weak transcription	Fetal Kidney	kidney
13	chr14:64696200-64706000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:64696400-64703000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:64696400-64708200	Weak transcription	Aorta	Aorta
16	chr14:64697200-64702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:64698200-64701600	Weak transcription	Colonic Mucosa	Colon
18	chr14:64698400-64705600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:64698600-64702600	Strong transcription	Fetal Stomach	stomach
20	chr14:64698800-64702400	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:64698800-64702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:64698800-64703600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:64698800-64703600	Flanking Active TSS	GM12878-XiMat	blood
24	chr14:64698800-64716600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:64699200-64701600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:64699400-64701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:64699400-64702000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:64699600-64708000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:64699800-64701600	Weak transcription	Liver	Liver
30	chr14:64699800-64701600	Weak transcription	Right Atrium	heart
31	chr14:64699800-64704000	Enhancers	Primary B cells from cord blood	blood
32	chr14:64699800-64705600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:64699800-64705800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:64700000-64701600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:64700000-64701600	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:64700000-64701800	Weak transcription	Fetal Intestine Small	intestine
37	chr14:64700000-64701800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:64700000-64702000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:64700000-64705800	Weak transcription	Lung	lung
40	chr14:64700000-64706400	Weak transcription	Right Ventricle	heart
41	chr14:64700200-64701600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:64700200-64701600	Weak transcription	Left Ventricle	heart
43	chr14:64700200-64701800	Weak transcription	Primary T cells from cord blood	blood
44	chr14:64700200-64703400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:64700400-64701800	Weak transcription	Brain Germinal Matrix	brain
46	chr14:64700400-64702600	Enhancers	Pancreas	Pancrea
47	chr14:64700400-64703800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:64700400-64705200	Weak transcription	Dnd41	blood
49	chr14:64700600-64702400	Bivalent Enhancer	NH-A	brain
50	chr14:64700600-64703000	Weak transcription	Adipose Nuclei	Adipose

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