Variant report

Variant	rs74060294
Chromosome Location	chr14:70178204-70178205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
2	chr14:70129521..70131459-chr14:70177879..70180104,2	MCF-7	breast:
3	chr14:70163089..70166049-chr14:70176674..70179020,3	MCF-7	breast:
4	chr14:70175565..70179211-chr14:70180408..70183769,4	MCF-7	breast:
5	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11844446	1.00[EUR][1000 genomes]
rs11844465	1.00[EUR][1000 genomes]
rs11845465	1.00[EUR][1000 genomes]
rs11845528	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11847510	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808476	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs73286939	1.00[EUR][1000 genomes]
rs73286943	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009986	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
4	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:70170000-70178400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:70170200-70178400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70170200-70178400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:70170400-70178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:70170600-70178600	Strong transcription	Thymus	Thymus
12	chr14:70170800-70178400	Strong transcription	Primary T cells from cord blood	blood
13	chr14:70174200-70180200	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:70174600-70179000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:70174800-70178400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:70174800-70178600	Strong transcription	Dnd41	blood
17	chr14:70175000-70178600	Strong transcription	Osteobl	bone
18	chr14:70175000-70179000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:70175000-70181600	Genic enhancers	Fetal Muscle Leg	muscle
20	chr14:70175200-70179200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:70175400-70178400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:70175400-70178800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:70175400-70180800	Enhancers	Brain Substantia Nigra	brain
24	chr14:70176000-70178600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:70176000-70178800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:70176000-70179600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:70176000-70182000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:70176200-70178400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:70176200-70178400	Weak transcription	NHEK	skin
30	chr14:70176200-70179200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:70176400-70179000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:70176400-70179800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
33	chr14:70176600-70179000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:70176600-70179200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:70176800-70178600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:70176800-70178800	Weak transcription	HUVEC	blood vessel
37	chr14:70176800-70180600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:70177000-70178600	Genic enhancers	Colonic Mucosa	Colon
39	chr14:70177000-70178800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:70177000-70180600	Genic enhancers	Placenta	Placenta
41	chr14:70177200-70178400	Genic enhancers	Left Ventricle	heart
42	chr14:70177200-70179600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:70177200-70180000	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:70177200-70180400	Genic enhancers	Esophagus	oesophagus
45	chr14:70177200-70180800	Genic enhancers	Right Ventricle	heart
46	chr14:70177200-70181600	Genic enhancers	Fetal Thymus	thymus
47	chr14:70177200-70181600	Genic enhancers	Lung	lung
48	chr14:70177200-70184000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:70177400-70178400	Genic enhancers	Adipose Nuclei	Adipose
50	chr14:70177400-70178400	Genic enhancers	Rectal Smooth Muscle	rectum

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