Variant report

Variant	rs73311369
Chromosome Location	chr14:77819987-77819988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:77819944-77820482	HepG2	liver:	n/a	n/a
2	MYBL2	chr14:77819953-77820541	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77819648..77821971-chr14:77835569..77838449,2	K562	blood:

Variant related genes	Relation type
RN7SL137P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10132619	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1017186	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1046428	0.85[ASN][1000 genomes]
rs11845842	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850771	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12881799	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886056	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887558	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12894718	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468951	0.85[ASN][1000 genomes]
rs17105724	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2111700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160838	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160839	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759731	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56162150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67845205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155184	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73311375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671248	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77793200-77824600	Weak transcription	Psoas Muscle	Psoas
2	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:77806600-77822200	Weak transcription	NHDF-Ad	bronchial
5	chr14:77807800-77822000	Weak transcription	Osteobl	bone
6	chr14:77808400-77830600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:77809600-77825000	Weak transcription	Gastric	stomach
8	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
9	chr14:77809800-77820200	Weak transcription	Brain Substantia Nigra	brain
10	chr14:77809800-77821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:77810000-77820200	Weak transcription	Hela-S3	cervix
12	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:77810200-77820000	Weak transcription	Ovary	ovary
14	chr14:77810600-77822200	Weak transcription	K562	blood
15	chr14:77810600-77825400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:77810800-77820200	Weak transcription	Brain Angular Gyrus	brain
17	chr14:77810800-77823800	Weak transcription	Right Ventricle	heart
18	chr14:77811000-77821400	Weak transcription	Lung	lung
19	chr14:77811000-77824400	Weak transcription	Spleen	Spleen
20	chr14:77811200-77830000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:77811200-77835000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
23	chr14:77813000-77827000	Weak transcription	Primary B cells from cord blood	blood
24	chr14:77813000-77835600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
26	chr14:77814400-77821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:77814400-77824400	Weak transcription	Fetal Kidney	kidney
28	chr14:77816600-77822200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:77816800-77820200	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:77816800-77820200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:77816800-77822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:77816800-77823600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:77816800-77835600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:77817000-77826000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:77817200-77822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:77817200-77825200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:77817200-77826600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:77817200-77827000	Weak transcription	GM12878-XiMat	blood
40	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:77817400-77820200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:77817400-77822200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:77817400-77822800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:77817400-77823600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:77817400-77830400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr14:77817400-77830600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:77817400-77835200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:77817400-77835400	Weak transcription	Primary T cells from cord blood	blood

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