Variant report

Variant	rs7148816
Chromosome Location	chr14:34923086-34923087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34914730..34916776-chr14:34920765..34923718,2	MCF-7	breast:
2	chr14:34922503..34924704-chr14:35007891..35010342,2	MCF-7	breast:
3	chr14:34635250..34638092-chr14:34922730..34924638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129553	0.91[EUR][1000 genomes]
rs10129766	0.91[EUR][1000 genomes]
rs10130622	0.91[EUR][1000 genomes]
rs10130753	0.91[EUR][1000 genomes]
rs10134725	0.91[EUR][1000 genomes]
rs10136474	0.91[EUR][1000 genomes]
rs10146788	0.91[EUR][1000 genomes]
rs10147869	0.91[EUR][1000 genomes]
rs11156844	0.94[EUR][1000 genomes]
rs11156845	0.94[EUR][1000 genomes]
rs17102535	0.88[EUR][1000 genomes]
rs28464896	0.88[EUR][1000 genomes]
rs28503702	0.94[EUR][1000 genomes]
rs28505950	0.94[EUR][1000 genomes]
rs28570067	0.91[EUR][1000 genomes]
rs28711373	0.88[EUR][1000 genomes]
rs28716315	0.91[EUR][1000 genomes]
rs28825399	0.91[EUR][1000 genomes]
rs61552888	0.94[EUR][1000 genomes]
rs7140844	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152442	0.91[EUR][1000 genomes]
rs7152899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8005278	0.88[EUR][1000 genomes]
rs8006226	0.91[EUR][1000 genomes]
rs8009289	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34901800-34929400	Weak transcription	K562	blood
2	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:34906800-34923400	Weak transcription	NHLF	lung
5	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:34906800-34928800	Weak transcription	NH-A	brain
7	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:34907000-34923600	Weak transcription	Liver	Liver
9	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
10	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
11	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
12	chr14:34908000-34923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:34910400-34924600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:34910600-34923400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
17	chr14:34913000-34924200	Weak transcription	Placenta	Placenta
18	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood
21	chr14:34915000-34930000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:34915200-34927000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:34915200-34929200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:34916000-34929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:34916200-34923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:34916800-34923200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:34917600-34930400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:34917600-34930800	Weak transcription	Spleen	Spleen
29	chr14:34917800-34930000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:34918000-34930000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:34918000-34930600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:34918400-34923200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:34918400-34929000	Weak transcription	Osteobl	bone
34	chr14:34918600-34923800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:34918600-34930000	Weak transcription	Aorta	Aorta
36	chr14:34919000-34926200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:34919200-34923200	Genic enhancers	A549	lung
38	chr14:34919600-34923200	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:34919600-34924200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:34920000-34923200	Weak transcription	GM12878-XiMat	blood
41	chr14:34920000-34923400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:34920000-34923400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:34920000-34929000	Weak transcription	Dnd41	blood
44	chr14:34920000-34930000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:34920200-34923200	Weak transcription	HSMM	muscle
46	chr14:34920200-34923400	Weak transcription	NHDF-Ad	bronchial
47	chr14:34920200-34929000	Weak transcription	Fetal Lung	lung
48	chr14:34920200-34929000	Weak transcription	HMEC	breast
49	chr14:34920200-34930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:34920400-34923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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