Variant report

Variant	rs11623812
Chromosome Location	chr14:70096878-70096879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70095513..70097644-chr14:70108605..70110180,2	K562	blood:
2	chr14:70095351..70098392-chr14:70102040..70105224,3	MCF-7	breast:
3	chr14:70090076..70092000-chr14:70096449..70098698,2	MCF-7	breast:
4	chr14:70096492..70098988-chr14:70099076..70100587,2	MCF-7	breast:
5	chr14:70096444..70098437-chr14:70100734..70102530,2	K562	blood:
6	chr14:70095845..70098829-chr14:70103147..70105853,3	K562	blood:
7	chr14:70096444..70099112-chr14:70101030..70103502,2	K562	blood:
8	chr14:70077596..70079143-chr14:70096247..70098385,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11620826	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11627867	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629212	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587433	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1275747	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs1275748	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275749	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107177	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1763223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1957365	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275124	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784143	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784144	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784149	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3825736	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899310	0.92[ASN][1000 genomes]
rs4902742	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61980737	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61982060	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982061	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8010776	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020026	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
2	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:70087200-70100000	Weak transcription	NHEK	skin
4	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
8	chr14:70092400-70097800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:70092400-70098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:70092400-70098200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:70092400-70100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70092400-70101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:70092600-70099600	Enhancers	Primary B cells from cord blood	blood
14	chr14:70092800-70097000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:70092800-70097000	Weak transcription	Fetal Intestine Small	intestine
16	chr14:70092800-70097600	Weak transcription	HMEC	breast
17	chr14:70092800-70098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:70092800-70098200	Weak transcription	Fetal Kidney	kidney
19	chr14:70092800-70098400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:70092800-70098400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:70092800-70098400	Weak transcription	NH-A	brain
22	chr14:70092800-70098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:70092800-70098800	Weak transcription	Colonic Mucosa	Colon
24	chr14:70092800-70099000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:70092800-70101800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:70092800-70102400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:70093000-70098000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:70093000-70099400	Weak transcription	Thymus	Thymus
29	chr14:70093000-70099600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:70093000-70102800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:70093000-70103000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:70093200-70099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:70093200-70100200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:70093200-70102200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:70093600-70098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:70093800-70099000	Weak transcription	HUVEC	blood vessel
37	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:70094600-70100800	Enhancers	Liver	Liver
39	chr14:70094800-70101200	Enhancers	Spleen	Spleen
40	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
41	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:70095000-70102400	Enhancers	Primary T cells from cord blood	blood
43	chr14:70095000-70102400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:70095000-70102800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
47	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr14:70095200-70098400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:70095200-70099400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:70095200-70099800	Enhancers	Fetal Heart	heart

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