Variant report

Variant	rs74060267
Chromosome Location	chr14:70139154-70139155
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70124277..70126417-chr14:70138561..70141112,2	MCF-7	breast:
2	chr14:70136816..70139269-chr14:70147791..70149415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

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]
rs55870632	1.00[AMR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	0.88[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	0.88[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	0.80[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]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70130000-70148800	Weak transcription	NHEK	skin
5	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:70130400-70139200	Weak transcription	Gastric	stomach
7	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
8	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
9	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:70134000-70139200	Weak transcription	Ovary	ovary
12	chr14:70134000-70140200	Weak transcription	Osteobl	bone
13	chr14:70134000-70140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70134800-70140400	Weak transcription	Fetal Lung	lung
16	chr14:70134800-70143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:70134800-70143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:70135000-70139200	Weak transcription	Placenta	Placenta
19	chr14:70135000-70139200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:70135000-70139800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:70135000-70140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:70135000-70143800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:70135800-70142800	Enhancers	Right Ventricle	heart
24	chr14:70136000-70140400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:70136000-70140600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr14:70136000-70143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:70136000-70143800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:70136000-70144000	Enhancers	Psoas Muscle	Psoas
29	chr14:70136200-70140200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:70136200-70140400	Enhancers	Adipose Nuclei	Adipose
31	chr14:70136200-70143000	Enhancers	Brain Hippocampus Middle	brain
32	chr14:70136200-70143800	Enhancers	Left Ventricle	heart
33	chr14:70136400-70142200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:70136400-70142400	Enhancers	Brain Anterior Caudate	brain
35	chr14:70136600-70143000	Enhancers	Pancreas	Pancrea
36	chr14:70136600-70143000	Enhancers	Right Atrium	heart
37	chr14:70136800-70140600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:70137000-70139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:70137000-70139800	Weak transcription	Fetal Intestine Large	intestine
40	chr14:70137200-70139200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:70137200-70141200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:70137200-70148800	Weak transcription	K562	blood
43	chr14:70137400-70141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:70137400-70142600	Enhancers	Fetal Muscle Leg	muscle
45	chr14:70137600-70139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:70137600-70139200	Weak transcription	HepG2	liver
47	chr14:70137600-70140400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:70137600-70142200	Enhancers	Fetal Heart	heart
49	chr14:70137600-70143000	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:70137600-70143400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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