Variant report

Variant	rs8010776
Chromosome Location	chr14:70146269-70146270
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
2	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11620826	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11623812	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11627867	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11629212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587433	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275747	0.93[ASN][1000 genomes]
rs1275748	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275749	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17107177	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957365	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784143	1.00[EUR][1000 genomes]
rs3784144	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825736	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902742	0.86[EUR][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980727	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61980737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982060	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61982061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8020026	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3338937	chr14:70146137-70146677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70130000-70148800	Weak transcription	NHEK	skin
2	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:70137200-70148800	Weak transcription	K562	blood
6	chr14:70138200-70149000	Weak transcription	HMEC	breast
7	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
10	chr14:70140600-70152200	Weak transcription	NHLF	lung
11	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70141200-70146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:70141200-70146800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:70141200-70146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
17	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:70141600-70148200	Weak transcription	Spleen	Spleen
19	chr14:70141600-70149000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:70141600-70149400	Weak transcription	Fetal Stomach	stomach
21	chr14:70141600-70149800	Weak transcription	Gastric	stomach
22	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
23	chr14:70142000-70146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:70142000-70146800	Weak transcription	Osteobl	bone
25	chr14:70142000-70149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:70142200-70146800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:70142200-70147000	Weak transcription	Aorta	Aorta
28	chr14:70142200-70147000	Weak transcription	Ovary	ovary
29	chr14:70142200-70148600	Weak transcription	Stomach Mucosa	stomach
30	chr14:70142200-70148800	Weak transcription	Brain Substantia Nigra	brain
31	chr14:70142200-70149200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:70142400-70146800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:70142400-70146800	Weak transcription	Brain Anterior Caudate	brain
34	chr14:70142400-70148800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:70142400-70149000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:70142600-70146800	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:70142600-70146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:70142600-70149000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:70142800-70146800	Weak transcription	Lung	lung
40	chr14:70142800-70146800	Weak transcription	Right Ventricle	heart
41	chr14:70142800-70148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:70142800-70148800	Weak transcription	Brain Angular Gyrus	brain
43	chr14:70142800-70149800	Weak transcription	Thymus	Thymus
44	chr14:70143000-70146600	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:70143000-70146800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:70143000-70146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:70143000-70146800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:70143000-70146800	Weak transcription	Small Intestine	intestine
49	chr14:70143000-70147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:70143000-70148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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