Variant report

Variant	rs11623403
Chromosome Location	chr14:31417816-31417817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10459469	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.92[GIH][hapmap];0.81[JPT][hapmap]
rs10483356	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs11625978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097531	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs17097608	0.81[JPT][hapmap]
rs17097614	0.81[JPT][hapmap]
rs17097617	0.81[JPT][hapmap]
rs1977130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295129	0.86[ASW][hapmap];0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55843943	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136496	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57706775	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307523	0.84[EUR][1000 genomes]
rs61976773	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976779	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976796	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976799	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571374	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67898509	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140551	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150316	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150699	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008526	0.81[JPT][hapmap]
rs8008780	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671318	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv456197	chr14:31386426-31417816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv564178	chr14:31386426-31417816	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
3	chr14:31360200-31435600	Weak transcription	Gastric	stomach
4	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
5	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
7	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
8	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
10	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
11	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31398400-31426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31400200-31425600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:31405800-31422800	Weak transcription	Fetal Brain Male	brain
18	chr14:31408000-31425400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:31408000-31425800	Strong transcription	Dnd41	blood
20	chr14:31408600-31424400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:31409200-31425000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:31409400-31424400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:31410000-31418400	Strong transcription	HSMM	muscle
24	chr14:31410000-31420800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr14:31410000-31425600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:31410000-31425600	Strong transcription	Fetal Intestine Large	intestine
27	chr14:31410200-31425600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:31410200-31425800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:31410400-31420000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:31411200-31418200	Strong transcription	Fetal Lung	lung
32	chr14:31411200-31419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:31411200-31425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:31411200-31425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:31411400-31418400	Strong transcription	A549	lung
36	chr14:31411400-31420200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:31411400-31421400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:31411400-31425400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:31411600-31420000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:31411600-31425200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:31411600-31425800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:31411800-31423400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:31411800-31425400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:31411800-31425400	Strong transcription	Liver	Liver
45	chr14:31411800-31425600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:31412000-31418800	Strong transcription	Adipose Nuclei	Adipose
47	chr14:31412200-31418200	Strong transcription	NH-A	brain
48	chr14:31412400-31418200	Strong transcription	Osteobl	bone
49	chr14:31412400-31418800	Strong transcription	Placenta	Placenta
50	chr14:31412400-31419200	Strong transcription	HSMMtube	muscle

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