Variant report

Variant	rs11714843
Chromosome Location	chr3:119221064-119221065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119219516..119223386-chr3:119224346..119229091,6	K562	blood:
2	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
3	chr3:119220229..119222944-chr3:119393933..119395853,2	K562	blood:
4	chr3:119220784..119223017-chr3:119241149..119243066,2	K562	blood:
5	chr3:119185037..119191105-chr3:119214944..119221331,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138495	Chromatin interaction
ENSG00000163389	Chromatin interaction
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11706028	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11706042	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11707612	0.96[ASN][1000 genomes]
rs11709468	0.91[ASN][1000 genomes]
rs11714738	0.96[ASN][1000 genomes]
rs11719448	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11720158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11720423	0.96[ASN][1000 genomes]
rs1599795	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1599796	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17203104	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17203188	0.96[ASN][1000 genomes]
rs1938	0.89[ASN][1000 genomes]
rs1961132	0.96[ASN][1000 genomes]
rs2049500	0.92[ASN][1000 genomes]
rs2276713	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280670	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293371	0.98[ASN][1000 genomes]
rs34090996	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3732418	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755579	0.98[ASN][1000 genomes]
rs4447803	0.96[ASN][1000 genomes]
rs4461452	0.90[ASN][1000 genomes]
rs4687851	0.85[AMR][1000 genomes]
rs4687863	0.92[ASN][1000 genomes]
rs4688009	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688013	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57506457	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59024323	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60938951	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62263399	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62263404	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62263406	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62263444	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62264483	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62264487	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438534	0.92[ASN][1000 genomes]
rs6788474	0.92[ASN][1000 genomes]
rs7610335	0.90[ASN][1000 genomes]
rs9289131	0.96[ASN][1000 genomes]
rs9832341	0.95[ASN][1000 genomes]
rs9850413	0.92[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119218000-119224400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119218000-119225000	Weak transcription	Gastric	stomach
3	chr3:119218000-119231800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
5	chr3:119218600-119221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:119218600-119221600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:119218600-119222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:119218600-119223000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:119218600-119224600	Weak transcription	Brain Germinal Matrix	brain
10	chr3:119218600-119225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:119218600-119225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:119218600-119225000	Weak transcription	Lung	lung
13	chr3:119218600-119231800	Weak transcription	Spleen	Spleen
14	chr3:119218600-119234400	Weak transcription	Colonic Mucosa	Colon
15	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
16	chr3:119218800-119225000	Weak transcription	Thymus	Thymus
17	chr3:119218800-119233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:119219000-119221200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:119219000-119221200	Weak transcription	Fetal Stomach	stomach
20	chr3:119219000-119221400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:119219000-119221400	Weak transcription	Placenta	Placenta
22	chr3:119219000-119221800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:119219000-119222000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:119219000-119222200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:119219000-119222400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:119219000-119222600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:119219000-119222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:119219000-119222800	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:119219000-119224600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:119219000-119235800	Weak transcription	Fetal Kidney	kidney
31	chr3:119219400-119221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:119219400-119221400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:119219600-119221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:119219600-119221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:119219600-119224000	Weak transcription	NHDF-Ad	bronchial
37	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
38	chr3:119219800-119221200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr3:119219800-119221200	Weak transcription	Left Ventricle	heart
40	chr3:119219800-119221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:119219800-119221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:119219800-119221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:119219800-119222000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:119219800-119222600	Weak transcription	NH-A	brain
45	chr3:119219800-119222800	Weak transcription	Brain Angular Gyrus	brain
46	chr3:119219800-119224600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:119219800-119228000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr3:119219800-119231000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:119219800-119232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:119219800-119232000	Weak transcription	Brain Substantia Nigra	brain

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