Variant report

Variant	rs4462730
Chromosome Location	chr19:21689276-21689277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21510924..21513197-chr19:21688433..21691004,2	MCF-7	breast:
2	chr19:21686543..21689002-chr19:21689124..21690640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182141	Chromatin interaction
ENSG00000197013	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4462729	1.00[AMR][1000 genomes]
rs56217825	1.00[AMR][1000 genomes]
rs59543267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60083403	1.00[AMR][1000 genomes]
rs61115928	1.00[AMR][1000 genomes]
rs61663351	1.00[AMR][1000 genomes]
rs7254975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255176	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257308	1.00[AMR][1000 genomes]
rs7259339	1.00[AMR][1000 genomes]
rs73546789	1.00[AMR][1000 genomes]
rs73548606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926349	1.00[AMR][1000 genomes]
rs8107706	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv543941	chr19:21676223-21693215	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv963024	chr19:21686690-21722618	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21687600-21689400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:21687600-21689600	Active TSS	Brain Germinal Matrix	brain
3	chr19:21687800-21689400	Active TSS	Brain Hippocampus Middle	brain
4	chr19:21687800-21689400	Active TSS	GM12878-XiMat	blood
5	chr19:21688000-21689400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:21688000-21689400	Active TSS	Brain Cingulate Gyrus	brain
7	chr19:21688000-21689400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr19:21688000-21689400	Active TSS	Fetal Thymus	thymus
9	chr19:21688000-21689400	Active TSS	Right Ventricle	heart
10	chr19:21688000-21689600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:21688000-21689600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:21688000-21689600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:21688000-21689600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:21688000-21689600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:21688000-21689600	Active TSS	Right Atrium	heart
16	chr19:21688000-21689600	Active TSS	NHEK	skin
17	chr19:21688000-21689800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:21688000-21689800	Active TSS	Brain Anterior Caudate	brain
19	chr19:21688000-21690000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:21688000-21690000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:21688000-21690200	Active TSS	Stomach Smooth Muscle	stomach
22	chr19:21688200-21689400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:21688200-21689400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr19:21688200-21689400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:21688200-21689400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:21688200-21689400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:21688200-21689400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:21688200-21689400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:21688200-21689400	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr19:21688200-21689400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr19:21688200-21689400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:21688200-21689400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:21688200-21689400	Active TSS	Brain Angular Gyrus	brain
34	chr19:21688200-21689400	Active TSS	Brain Substantia Nigra	brain
35	chr19:21688200-21689400	Active TSS	Colonic Mucosa	Colon
36	chr19:21688200-21689400	Active TSS	Colon Smooth Muscle	Colon
37	chr19:21688200-21689400	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:21688200-21689400	Active TSS	Ovary	ovary
39	chr19:21688200-21689400	Active TSS	Psoas Muscle	Psoas
40	chr19:21688200-21689400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr19:21688200-21689400	Active TSS	Rectal Smooth Muscle	rectum
42	chr19:21688200-21689400	Active TSS	HSMM	muscle
43	chr19:21688200-21689400	Active TSS	HSMMtube	muscle
44	chr19:21688200-21689400	Active TSS	NHLF	lung
45	chr19:21688200-21689600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr19:21688200-21689600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:21688200-21689600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:21688200-21689600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:21688200-21689600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:21688200-21689600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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