Variant report

Variant	rs73624843
Chromosome Location	chr19:37695022-37695023
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	chr19:37694164..37696878-chr19:37699838..37702470,3	K562	blood:
2	chr19:37692673..37695241-chr19:37698158..37700620,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245680	Chromatin interaction
ENSG00000267360	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs34905469	1.00[AMR][1000 genomes]
rs58634134	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59619234	1.00[AMR][1000 genomes]
rs61564855	1.00[AMR][1000 genomes]
rs61745621	1.00[AMR][1000 genomes]
rs73620844	1.00[AMR][1000 genomes]
rs73622707	1.00[AMR][1000 genomes]
rs73622717	1.00[AMR][1000 genomes]
rs73622721	1.00[AMR][1000 genomes]
rs73622746	1.00[AMR][1000 genomes]
rs73622786	1.00[AMR][1000 genomes]
rs73622787	1.00[AMR][1000 genomes]
rs73623525	1.00[AMR][1000 genomes]
rs73623535	1.00[AMR][1000 genomes]
rs73623537	1.00[AMR][1000 genomes]
rs73623558	1.00[AMR][1000 genomes]
rs73623598	1.00[AMR][1000 genomes]
rs73624817	1.00[AMR][1000 genomes]
rs73624829	1.00[AMR][1000 genomes]
rs73624840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73624842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73624844	1.00[AMR][1000 genomes]
rs73625237	0.81[AFR][1000 genomes]
rs73625250	1.00[AMR][1000 genomes]
rs73625268	1.00[AMR][1000 genomes]
rs73626554	1.00[AMR][1000 genomes]
rs73626570	1.00[AMR][1000 genomes]
rs73627713	1.00[AMR][1000 genomes]
rs73627719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:37681000-37695800	Weak transcription	NH-A	brain
7	chr19:37681000-37695800	Weak transcription	NHLF	lung
8	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
9	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
10	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
11	chr19:37681200-37696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:37683200-37695200	Weak transcription	Brain Substantia Nigra	brain
13	chr19:37683400-37697400	Weak transcription	Fetal Brain Male	brain
14	chr19:37686800-37696600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37686800-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:37687400-37696000	Weak transcription	NHEK	skin
18	chr19:37687600-37698400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:37688200-37695400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:37688600-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37688800-37698200	Strong transcription	Placenta	Placenta
22	chr19:37689000-37701000	Weak transcription	Stomach Mucosa	stomach
23	chr19:37689200-37698400	ZNF genes & repeats	Liver	Liver
24	chr19:37689400-37700800	Weak transcription	Psoas Muscle	Psoas
25	chr19:37689800-37699800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:37690200-37695200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:37690200-37701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:37690200-37701000	Weak transcription	Fetal Kidney	kidney
29	chr19:37690400-37695200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:37690400-37695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:37690400-37695200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:37690400-37695200	Weak transcription	Esophagus	oesophagus
33	chr19:37690400-37695200	Weak transcription	Thymus	Thymus
34	chr19:37690400-37695400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:37690400-37695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:37690400-37696000	Weak transcription	NHDF-Ad	bronchial
37	chr19:37690400-37697600	Weak transcription	Brain Angular Gyrus	brain
38	chr19:37690400-37698200	Strong transcription	Adipose Nuclei	Adipose
39	chr19:37690400-37700600	Weak transcription	Right Ventricle	heart
40	chr19:37690400-37700800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:37690600-37695200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:37690600-37695200	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:37690600-37695200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:37690600-37695200	Weak transcription	Fetal Lung	lung
45	chr19:37690600-37695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:37690600-37696000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:37690800-37695200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:37690800-37695200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:37690800-37695400	Weak transcription	Brain Germinal Matrix	brain
50	chr19:37690800-37696400	Weak transcription	Fetal Brain Female	brain

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