Variant report

Variant	rs8003960
Chromosome Location	chr14:77512332-77512333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77377943..77382184-chr14:77511463..77514640,3	K562	blood:
2	chr14:77505244..77508394-chr14:77508465..77514444,9	K562	blood:
3	chr14:77398922..77401465-chr14:77511352..77514181,2	MCF-7	breast:
4	chr14:77420849..77423670-chr14:77509029..77513395,4	MCF-7	breast:
5	chr14:77405277..77435131-chr14:77486188..77514894,184	MCF-7	breast:
6	chr14:77379958..77382952-chr14:77511292..77514254,2	MCF-7	breast:
7	chr14:77511196..77514824-chr14:77516271..77519896,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258602	Chromatin interaction
ENSG00000266553	Chromatin interaction
ENSG00000246548	Chromatin interaction
ENSG00000243225	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56877603	1.00[AMR][1000 genomes]
rs57930391	1.00[AMR][1000 genomes]
rs58929764	1.00[AMR][1000 genomes]
rs60701738	1.00[AMR][1000 genomes]
rs60710489	1.00[AMR][1000 genomes]
rs73303563	1.00[AMR][1000 genomes]
rs73303571	1.00[AMR][1000 genomes]
rs73303578	1.00[AMR][1000 genomes]
rs73303586	1.00[AMR][1000 genomes]
rs73307238	1.00[AMR][1000 genomes]
rs73307242	1.00[AMR][1000 genomes]
rs73309135	1.00[AMR][1000 genomes]
rs73309138	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1037915	chr14:77461610-77561454	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv542142	chr14:77461610-77561454	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv1792437	chr14:77468802-77529928	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv902103	chr14:77484210-77540039	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77500600-77513000	Enhancers	Pancreas	Pancrea
2	chr14:77501000-77513600	Enhancers	Placenta	Placenta
3	chr14:77502600-77512400	Enhancers	Small Intestine	intestine
4	chr14:77503000-77513000	Enhancers	Left Ventricle	heart
5	chr14:77503000-77513200	Enhancers	Spleen	Spleen
6	chr14:77503200-77513400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:77503400-77512400	Enhancers	Brain Angular Gyrus	brain
8	chr14:77503400-77512800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:77506600-77512600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:77506600-77513400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:77507000-77513000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:77507200-77512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:77507200-77513400	Enhancers	Fetal Stomach	stomach
14	chr14:77507400-77512400	Enhancers	Fetal Intestine Small	intestine
15	chr14:77507400-77513000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:77507400-77513000	Enhancers	Fetal Intestine Large	intestine
17	chr14:77507400-77513000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:77507400-77513400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:77507400-77513400	Enhancers	Fetal Thymus	thymus
20	chr14:77507400-77513400	Enhancers	Right Atrium	heart
21	chr14:77507400-77513600	Enhancers	Lung	lung
22	chr14:77507400-77515000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:77507600-77512400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:77507600-77513000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:77507600-77513200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:77507600-77513400	Enhancers	Adipose Nuclei	Adipose
27	chr14:77507600-77513400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:77507800-77512800	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:77507800-77513000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:77507800-77513200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:77507800-77513400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:77507800-77513400	Enhancers	Stomach Mucosa	stomach
33	chr14:77507800-77513600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:77508000-77513400	Enhancers	Primary T cells from cord blood	blood
35	chr14:77508600-77513200	Enhancers	Fetal Brain Female	brain
36	chr14:77508600-77517000	Weak transcription	Aorta	Aorta
37	chr14:77509000-77512600	Enhancers	Colonic Mucosa	Colon
38	chr14:77509200-77513600	Enhancers	Right Ventricle	heart
39	chr14:77509400-77513200	Flanking Active TSS	Hela-S3	cervix
40	chr14:77509400-77513600	Enhancers	Gastric	stomach
41	chr14:77509400-77513600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:77509400-77513600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:77509800-77513400	Enhancers	HMEC	breast
44	chr14:77510000-77512400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:77510000-77513000	Enhancers	Psoas Muscle	Psoas
46	chr14:77510200-77512400	Enhancers	Osteobl	bone
47	chr14:77510200-77512600	Enhancers	Brain Anterior Caudate	brain
48	chr14:77510200-77512800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:77510200-77513000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:77510200-77513200	Enhancers	Brain Inferior Temporal Lobe	brain

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