Variant report

Variant	rs74056339
Chromosome Location	chr14:65078782-65078783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65005643..65008868-chr14:65077459..65080133,4	MCF-7	breast:
2	chr14:65005534..65008266-chr14:65076001..65079766,3	MCF-7	breast:
3	chr14:64970019..64971680-chr14:65078682..65080638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10130241	0.90[ASN][1000 genomes]
rs10130755	0.88[ASN][1000 genomes]
rs10132794	0.90[ASN][1000 genomes]
rs10133861	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134770	0.96[ASN][1000 genomes]
rs10138611	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10140678	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144661	0.85[ASN][1000 genomes]
rs10145003	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10145101	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10145275	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10145844	0.94[ASN][1000 genomes]
rs10150987	0.87[ASN][1000 genomes]
rs10151656	0.95[ASN][1000 genomes]
rs10467818	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10498516	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158547	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158548	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158549	0.87[ASN][1000 genomes]
rs11844669	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11846008	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11848587	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11850291	0.92[ASN][1000 genomes]
rs12586275	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12588437	0.92[ASN][1000 genomes]
rs12588509	0.92[ASN][1000 genomes]
rs17101956	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1955661	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955662	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1955663	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2123458	0.83[ASN][1000 genomes]
rs28714198	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28761289	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884269	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56039018	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56396472	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56690759	0.80[ASN][1000 genomes]
rs61987035	0.87[ASN][1000 genomes]
rs61987036	0.92[ASN][1000 genomes]
rs61987038	0.83[ASN][1000 genomes]
rs7140482	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148864	0.89[ASN][1000 genomes]
rs7153518	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74056358	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74056359	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65068800-65079400	Weak transcription	Right Atrium	heart
2	chr14:65073200-65079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:65073400-65079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65074000-65081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65076800-65079400	Enhancers	Fetal Lung	lung
6	chr14:65077200-65079800	Enhancers	Colon Smooth Muscle	Colon
7	chr14:65077200-65079800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:65077200-65080600	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:65077200-65080600	Enhancers	NHLF	lung
10	chr14:65077200-65082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:65077400-65080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:65077400-65081400	Weak transcription	Left Ventricle	heart
13	chr14:65077400-65085400	Weak transcription	Placenta	Placenta
14	chr14:65077600-65078800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:65077600-65079200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:65077600-65079600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:65077600-65079600	Enhancers	NHDF-Ad	bronchial
18	chr14:65077600-65079800	Enhancers	Osteobl	bone
19	chr14:65077600-65082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:65077800-65079200	Weak transcription	Fetal Brain Male	brain
21	chr14:65077800-65080200	Weak transcription	Gastric	stomach
22	chr14:65078000-65079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65078000-65079200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:65078000-65079200	Enhancers	HUVEC	blood vessel
25	chr14:65078000-65079400	Enhancers	HSMMtube	muscle
26	chr14:65078000-65079600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:65078000-65079600	Enhancers	Hela-S3	cervix
28	chr14:65078000-65080200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:65078200-65078800	Enhancers	Adipose Nuclei	Adipose
30	chr14:65078200-65078800	Enhancers	Brain Hippocampus Middle	brain
31	chr14:65078200-65078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:65078200-65079200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:65078200-65079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:65078200-65079400	Enhancers	NH-A	brain
35	chr14:65078200-65079600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:65078200-65079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:65078200-65079600	Enhancers	HSMM	muscle
38	chr14:65078200-65079800	Enhancers	NHEK	skin
39	chr14:65078200-65080800	Enhancers	Fetal Heart	heart
40	chr14:65078200-65082000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:65078400-65078800	Enhancers	Brain Angular Gyrus	brain
42	chr14:65078400-65079000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:65078400-65079000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:65078400-65079000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:65078400-65079000	Enhancers	Brain Substantia Nigra	brain
46	chr14:65078400-65079200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:65078400-65079200	Enhancers	HMEC	breast
48	chr14:65078400-65080200	Weak transcription	Stomach Mucosa	stomach
49	chr14:65078400-65080600	Weak transcription	Fetal Intestine Large	intestine
50	chr14:65078600-65078800	Flanking Active TSS	A549	lung

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