Variant report

Variant	rs7148355
Chromosome Location	chr14:96890497-96890498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:96889980..96892782-chr14:96967434..96969470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260806	Chromatin interaction
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10132967	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146581	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873472	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083805	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2369663	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2369679	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900324	1.00[ASN][1000 genomes]
rs4905490	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905493	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4905495	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4905496	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6420932	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575585	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140770	0.81[EUR][1000 genomes]
rs7151157	0.84[ASN][1000 genomes]
rs7155672	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006567	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010544	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9672123	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9919924	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
5	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv565649	chr14:96843590-96919620	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv902211	chr14:96864309-96986153	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96887800-96890800	Enhancers	Fetal Heart	heart
2	chr14:96890000-96890600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:96890000-96890600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr14:96890000-96890600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:96890000-96890600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:96890000-96890800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr14:96890000-96890800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:96890000-96891000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:96890000-96891000	Active TSS	Fetal Brain Female	brain
10	chr14:96890200-96890600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:96890200-96890600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:96890200-96890600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr14:96890200-96890600	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr14:96890200-96890600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:96890200-96890600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:96890200-96890600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:96890200-96890600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:96890200-96890600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:96890200-96890600	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr14:96890200-96890600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr14:96890200-96890600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr14:96890200-96890600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr14:96890200-96890600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr14:96890200-96890600	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr14:96890200-96890600	Bivalent Enhancer	Fetal Thymus	thymus
26	chr14:96890200-96890600	Enhancers	Gastric	stomach
27	chr14:96890200-96890600	Active TSS	Lung	lung
28	chr14:96890200-96890600	Flanking Active TSS	Pancreas	Pancrea
29	chr14:96890200-96890600	Flanking Active TSS	Psoas Muscle	Psoas
30	chr14:96890200-96890600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
31	chr14:96890200-96890600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr14:96890200-96890600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr14:96890200-96890800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr14:96890200-96890800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:96890200-96890800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:96890200-96890800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:96890200-96890800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:96890200-96890800	Active TSS	Colon Smooth Muscle	Colon
39	chr14:96890200-96890800	Active TSS	Right Ventricle	heart
40	chr14:96890200-96890800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr14:96890200-96890800	Flanking Active TSS	HMEC	breast
42	chr14:96890200-96890800	Flanking Active TSS	HUVEC	blood vessel
43	chr14:96890200-96890800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr14:96890200-96890800	Flanking Active TSS	NH-A	brain
45	chr14:96890200-96891000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:96890200-96891000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:96890200-96891000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:96890200-96891000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:96890200-96891000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr14:96890200-96891000	Active TSS	Brain Substantia Nigra	brain

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