Variant report

Variant	rs8012564
Chromosome Location	chr14:46874461-46874462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58023656	1.00[AMR][1000 genomes]
rs58755091	1.00[AMR][1000 genomes]
rs7149106	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050269	chr14:46527381-46936207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2761411	chr14:46716963-46996307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2751278	chr14:46718250-47225891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044526	chr14:46727837-46975636	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542084	chr14:46727837-46975636	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv564741	chr14:46777209-46921265	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv456292	chr14:46777209-46958836	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv564742	chr14:46777209-46958836	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv832787	chr14:46779696-46935436	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv564743	chr14:46784593-46921265	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2758358	chr14:46793652-46948526	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2759989	chr14:46793652-46948526	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv901860	chr14:46797353-46882391	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv901861	chr14:46797353-46913902	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv901862	chr14:46797353-47083005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv901863	chr14:46797353-47247399	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2829996	chr14:46799990-47344432	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv901864	chr14:46807798-46906052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1035714	chr14:46809270-46918079	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1047988	chr14:46811923-46878498	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1040671	chr14:46811923-46883042	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv901865	chr14:46812461-46882391	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv901866	chr14:46812461-46906052	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv901867	chr14:46818800-46903272	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv901868	chr14:46825242-46903272	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv901869	chr14:46825242-46913902	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	nsv901870	chr14:46825242-47125523	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv1039805	chr14:46836875-46946412	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv1048388	chr14:46841323-46878498	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
30	nsv1045191	chr14:46841323-46881404	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1037734	chr14:46841814-46874588	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
32	nsv1037767	chr14:46845529-46946412	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv564752	chr14:46848641-46921265	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
34	nsv1042215	chr14:46859948-46889472	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1048361	chr14:46867315-46904345	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv901871	chr14:46869797-46961322	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv564753	chr14:46869797-47006889	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv1037823	chr14:46873171-47013125	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46871800-46875200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:46871800-46877200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:46872000-46875000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:46872200-46877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:46872800-46875000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:46873000-46876200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:46873200-46876000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:46873400-46876000	Enhancers	Brain Germinal Matrix	brain
9	chr14:46873600-46874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:46874200-46874600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:46874200-46874600	Active TSS	Brain Anterior Caudate	brain
12	chr14:46874200-46874600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:46874200-46874800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:46874200-46874800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:46874200-46874800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:46874200-46874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:46874200-46874800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:46874200-46874800	Flanking Active TSS	Fetal Kidney	kidney
19	chr14:46874200-46875000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:46874200-46875000	Enhancers	Adipose Nuclei	Adipose
21	chr14:46874200-46875000	Enhancers	Brain Substantia Nigra	brain
22	chr14:46874200-46875000	Enhancers	Colon Smooth Muscle	Colon
23	chr14:46874200-46875000	Enhancers	Fetal Intestine Large	intestine
24	chr14:46874200-46875000	Enhancers	Fetal Intestine Small	intestine
25	chr14:46874400-46874600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:46874400-46874800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr14:46874400-46874800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:46874400-46874800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:46874400-46874800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:46874400-46874800	Flanking Active TSS	Fetal Lung	lung
31	chr14:46874400-46874800	Enhancers	Fetal Stomach	stomach

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