Variant report

Variant	rs11627963
Chromosome Location	chr14:55426547-55426548
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	chr14:55425546..55427837-chr14:55428745..55431370,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10129318	0.80[ASN][1000 genomes]
rs10140164	0.83[CHB][hapmap]
rs10143038	0.87[EUR][1000 genomes]
rs10149103	0.89[EUR][1000 genomes]
rs1107960	0.85[CHB][hapmap]
rs1107961	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158028	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs11158029	0.82[ASN][1000 genomes]
rs11621165	0.95[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs11621177	0.89[EUR][1000 genomes]
rs11622128	0.84[JPT][hapmap]
rs11625204	0.85[JPT][hapmap]
rs11626396	0.93[EUR][1000 genomes]
rs11626816	0.84[JPT][hapmap]
rs11627884	0.84[JPT][hapmap]
rs11629355	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847771	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs11852045	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1187873	0.84[JPT][hapmap]
rs1187874	0.85[JPT][hapmap]
rs1212641	0.85[JPT][hapmap]
rs17128052	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17253633	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2147963	0.85[JPT][hapmap]
rs2878172	0.83[CHB][hapmap]
rs3759662	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3759663	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3759664	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs3783641	0.95[CEU][hapmap];0.92[CHB][hapmap];0.81[EUR][1000 genomes]
rs3783645	0.80[ASN][1000 genomes]
rs45459500	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55704705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55726650	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55751189	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56188649	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56213135	0.90[EUR][1000 genomes]
rs57622454	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59074935	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60258834	0.90[EUR][1000 genomes]
rs61709472	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147201	0.95[CEU][hapmap];0.92[CHB][hapmap];0.81[EUR][1000 genomes]
rs72713482	0.81[EUR][1000 genomes]
rs72715547	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72715548	0.81[AMR][1000 genomes]
rs72715552	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72715575	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8006363	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8007267	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs8008150	0.82[ASN][1000 genomes]
rs8008858	0.93[EUR][1000 genomes]
rs8010570	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8011358	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017210	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs8018688	0.87[EUR][1000 genomes]
rs8019390	0.85[CHB][hapmap]
rs8020545	0.85[CHB][hapmap]
rs8020798	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs8022453	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8023187	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs878944	0.84[ASN][1000 genomes]
rs943913	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9671895	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
4	chr14:55403000-55449000	Weak transcription	Gastric	stomach
5	chr14:55403200-55442600	Weak transcription	NHEK	skin
6	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
7	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
8	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
9	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
12	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
14	chr14:55412200-55427600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55412600-55433600	Weak transcription	HepG2	liver
17	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:55414400-55429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:55415200-55450000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:55415400-55427600	Weak transcription	Fetal Intestine Large	intestine
22	chr14:55415400-55443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:55415600-55427600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:55415600-55427800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:55415600-55428800	Weak transcription	Hela-S3	cervix
26	chr14:55415800-55427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:55415800-55427600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:55415800-55427600	Weak transcription	A549	lung
29	chr14:55416000-55427400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:55416000-55442600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:55417400-55428800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:55419400-55442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:55419400-55443000	Weak transcription	NH-A	brain
35	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:55420200-55431400	Weak transcription	Small Intestine	intestine
38	chr14:55420200-55435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:55420400-55435600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:55420600-55428000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:55420600-55429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:55420600-55434000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:55420600-55434600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr14:55420600-55434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:55420600-55434800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:55420600-55435000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:55420600-55435000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55420600-55435200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:55420600-55435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:55420600-55435800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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