Variant report

Variant	rs28505950
Chromosome Location	chr14:34929274-34929275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34841266..34842852-chr14:34928524..34930795,2	MCF-7	breast:
2	chr14:34927994..34930347-chr14:34965334..34966847,2	K562	blood:
3	chr14:34926801..34930347-chr14:34965269..34966847,3	K562	blood:

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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156845	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102535	0.88[EUR][1000 genomes]
rs28464896	0.88[EUR][1000 genomes]
rs28503702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140844	0.85[EUR][1000 genomes]
rs7148816	0.94[EUR][1000 genomes]
rs7152442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7152899	0.94[EUR][1000 genomes]
rs8005278	0.94[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34901800-34929400	Weak transcription	K562	blood
2	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
4	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
5	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
6	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
7	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood
8	chr14:34915000-34930000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:34917600-34930400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:34917600-34930800	Weak transcription	Spleen	Spleen
11	chr14:34917800-34930000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:34918000-34930000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:34918000-34930600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:34918600-34930000	Weak transcription	Aorta	Aorta
15	chr14:34920000-34930000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:34920200-34930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:34920400-34930000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:34920600-34929400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:34920600-34930200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:34920800-34930200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:34921400-34930600	Weak transcription	Esophagus	oesophagus
22	chr14:34921400-34930600	Weak transcription	Pancreas	Pancrea
23	chr14:34922200-34930400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:34922400-34930200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:34922600-34930200	Weak transcription	Colonic Mucosa	Colon
26	chr14:34922800-34929800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:34922800-34929800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:34922800-34930400	Weak transcription	Ovary	ovary
29	chr14:34922800-34930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:34923000-34929600	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:34923000-34929800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:34923000-34930000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:34924200-34929800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:34924200-34930600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:34924800-34930400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:34924800-34930600	Weak transcription	Lung	lung
37	chr14:34925000-34929600	Weak transcription	Adipose Nuclei	Adipose
38	chr14:34925000-34930400	Weak transcription	Fetal Thymus	thymus
39	chr14:34925200-34929600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:34925200-34929600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:34925200-34930000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:34925200-34930400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:34925400-34930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:34925600-34929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:34925800-34929600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:34925800-34929600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:34925800-34929800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:34925800-34929800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:34925800-34930200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:34925800-34930600	Weak transcription	Placenta	Placenta

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