Variant report

Variant	rs11849209
Chromosome Location	chr14:39633747-39633748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39614914..39616637-chr14:39633029..39635576,2	K562	blood:
2	chr14:39628408..39631487-chr14:39631812..39634593,3	K562	blood:
3	chr14:39632209..39634394-chr14:39648466..39651233,2	K562	blood:
4	chr14:39613201..39614805-chr14:39632982..39635752,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1002193	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129762	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10131369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134166	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140763	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142117	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145476	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10148712	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040680	0.83[AMR][1000 genomes]
rs10483542	0.85[JPT][hapmap]
rs1050136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11622731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.84[ASN][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11850579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11851680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587208	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13021	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379129	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17092044	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092050	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs17108948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2273592	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277458	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes]
rs28501673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583114	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28666016	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701960	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28821293	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3759544	0.85[JPT][hapmap]
rs45622837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57482489	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57555422	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58601678	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59465524	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7156264	0.81[CHB][hapmap]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74048711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761805	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018720	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs926970	0.82[AMR][1000 genomes]
rs926971	0.89[JPT][hapmap]
rs993675	0.82[AMR][1000 genomes]

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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39611400-39638000	Weak transcription	A549	lung
9	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
18	chr14:39617800-39637400	Weak transcription	K562	blood
19	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
22	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:39625000-39636000	Strong transcription	Placenta	Placenta
25	chr14:39626400-39634200	Strong transcription	Fetal Lung	lung
26	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
27	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:39627000-39635400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:39627000-39637200	Weak transcription	Brain Angular Gyrus	brain
30	chr14:39627000-39637400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
32	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:39627000-39638800	Weak transcription	Gastric	stomach
35	chr14:39627200-39634600	Weak transcription	Fetal Kidney	kidney
36	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:39628200-39633800	Strong transcription	HepG2	liver
38	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial
39	chr14:39628400-39635600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39628800-39635000	Strong transcription	Fetal Intestine Small	intestine
41	chr14:39629000-39636400	Strong transcription	Fetal Intestine Large	intestine
42	chr14:39629200-39634000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:39629400-39634400	Strong transcription	Primary T cells from cord blood	blood
44	chr14:39629400-39634800	Strong transcription	Fetal Brain Female	brain
45	chr14:39630000-39635000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:39630000-39635000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:39630200-39634600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:39630400-39635000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:39630400-39635000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:39630400-39636200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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