Variant report

Variant	rs73363284
Chromosome Location	chr14:96811134-96811135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96810655..96813466-chr14:96828252..96831155,2	K562	blood:
2	chr14:96810440..96812329-chr14:96828371..96830124,2	MCF-7	breast:
3	chr14:96811041..96813336-chr14:96817086..96818860,2	K562	blood:

Variant related genes	Relation type
ENSG00000066739	Chromatin interaction
ENSG00000100744	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs28701482	1.00[AMR][1000 genomes]
rs55688559	1.00[AMR][1000 genomes]
rs56265756	1.00[AMR][1000 genomes]
rs56296574	1.00[AMR][1000 genomes]
rs58550318	1.00[AMR][1000 genomes]
rs59461473	1.00[AMR][1000 genomes]
rs60121386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60248045	1.00[AMR][1000 genomes]
rs7146082	1.00[AMR][1000 genomes]
rs7146728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349211	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363250	1.00[AMR][1000 genomes]
rs73363256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086703	1.00[AMR][1000 genomes]
rs74086710	1.00[AMR][1000 genomes]
rs74086716	1.00[AMR][1000 genomes]
rs74086718	1.00[AMR][1000 genomes]
rs74086723	1.00[AMR][1000 genomes]
rs74086724	1.00[AMR][1000 genomes]
rs74086728	1.00[AMR][1000 genomes]
rs74086730	1.00[AMR][1000 genomes]
rs74086735	1.00[AMR][1000 genomes]
rs74090353	1.00[AMR][1000 genomes]
rs74090354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv530800	chr14:96253695-96920094	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96756400-96811200	Weak transcription	Hela-S3	cervix
2	chr14:96757000-96812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:96757000-96816000	Weak transcription	NHEK	skin
4	chr14:96770600-96815400	Weak transcription	Right Ventricle	heart
5	chr14:96776400-96815800	Weak transcription	Spleen	Spleen
6	chr14:96777600-96814800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:96781400-96827800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:96783800-96827000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:96785600-96828000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:96785600-96828000	Weak transcription	Aorta	Aorta
11	chr14:96788400-96819600	Weak transcription	Esophagus	oesophagus
12	chr14:96790400-96825800	Weak transcription	Small Intestine	intestine
13	chr14:96791400-96826000	Weak transcription	Fetal Intestine Small	intestine
14	chr14:96792400-96815600	Weak transcription	K562	blood
15	chr14:96794600-96827600	Weak transcription	Fetal Stomach	stomach
16	chr14:96797600-96815600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:96797600-96815600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:96797600-96816000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:96797800-96811400	Weak transcription	Fetal Brain Male	brain
20	chr14:96797800-96815600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:96797800-96826000	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:96798000-96815600	Weak transcription	Psoas Muscle	Psoas
23	chr14:96799000-96813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:96799000-96815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:96799000-96815800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:96799000-96825800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:96801000-96815400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:96803400-96811400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:96803800-96813800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:96803800-96815200	Weak transcription	HSMM	muscle
31	chr14:96805000-96826000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:96806000-96826200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:96807000-96815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:96807000-96815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:96807000-96819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:96807000-96827600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:96807200-96815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:96807200-96819400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:96807200-96827400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:96807200-96828200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:96808000-96811200	Weak transcription	Brain Substantia Nigra	brain
42	chr14:96808000-96812400	Weak transcription	Placenta	Placenta
43	chr14:96808000-96813600	Weak transcription	Brain Angular Gyrus	brain
44	chr14:96808000-96814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:96808000-96815200	Weak transcription	Fetal Heart	heart
46	chr14:96808000-96815600	Weak transcription	Left Ventricle	heart
47	chr14:96808000-96815600	Weak transcription	Lung	lung
48	chr14:96808000-96815600	Weak transcription	Ovary	ovary
49	chr14:96808000-96815800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:96808000-96816000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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