Variant report

Variant	rs3783718
Chromosome Location	chr14:65486510-65486511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65486372..65487262-chr14:65498301..65499323,4	MCF-7	breast:
2	chr14:65484853..65486970-chr14:65569008..65571041,2	MCF-7	breast:
3	chr14:65254966..65256507-chr14:65486443..65488468,2	K562	blood:
4	chr14:65377652..65378279-chr14:65486390..65487336,2	K562	blood:
5	chr14:65452895..65453927-chr14:65485883..65487356,4	MCF-7	breast:
6	chr14:65451988..65455429-chr14:65484852..65488330,4	MCF-7	breast:
7	chr14:65450129..65451062-chr14:65486362..65487163,3	MCF-7	breast:
8	chr14:65452466..65455103-chr14:65486430..65488403,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2296314	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296320	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34601568	0.95[ASN][1000 genomes]
rs3783716	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3783717	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783719	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825641	0.95[ASN][1000 genomes]
rs3825642	1.00[EUR][1000 genomes]
rs56325087	0.90[ASN][1000 genomes]
rs7142375	0.95[ASN][1000 genomes]
rs7155468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728236	0.90[ASN][1000 genomes]
rs73272630	0.95[ASN][1000 genomes]
rs9944027	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
2	chr14:65457600-65499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65467800-65494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:65468200-65486800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:65471000-65494000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:65473400-65501400	Weak transcription	NHLF	lung
11	chr14:65473800-65513800	Weak transcription	HMEC	breast
12	chr14:65474000-65494200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:65474200-65494400	Weak transcription	NH-A	brain
14	chr14:65474400-65494800	Weak transcription	NHDF-Ad	bronchial
15	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65477200-65491800	Weak transcription	Psoas Muscle	Psoas
18	chr14:65477200-65493200	Weak transcription	Aorta	Aorta
19	chr14:65478200-65489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:65478600-65491800	Weak transcription	NHEK	skin
21	chr14:65479400-65492400	Weak transcription	Colonic Mucosa	Colon
22	chr14:65479800-65493800	Weak transcription	HSMM	muscle
23	chr14:65480000-65507400	Weak transcription	Gastric	stomach
24	chr14:65480200-65493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65480200-65499000	Weak transcription	Fetal Brain Male	brain
26	chr14:65480800-65507400	Weak transcription	Hela-S3	cervix
27	chr14:65481600-65493400	Weak transcription	Right Ventricle	heart
28	chr14:65482800-65494400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:65482800-65495800	Weak transcription	HUVEC	blood vessel
30	chr14:65483000-65493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:65483000-65494000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:65483400-65493600	Weak transcription	Pancreas	Pancrea
33	chr14:65483400-65493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:65483600-65486600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:65483600-65486600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:65483600-65488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:65483600-65491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:65483600-65491800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:65483600-65492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:65483600-65492400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:65483600-65492400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:65483600-65492800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:65483600-65493400	Weak transcription	Primary B cells from cord blood	blood
45	chr14:65483600-65493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:65483600-65493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:65483600-65493600	Weak transcription	Spleen	Spleen
48	chr14:65483600-65493600	Weak transcription	Osteobl	bone
49	chr14:65483600-65493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:65483600-65493800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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