Variant report

Variant	rs73621723
Chromosome Location	chr19:37465243-37465244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10421077	1.00[AMR][1000 genomes]
rs10423796	1.00[AMR][1000 genomes]
rs11084870	1.00[AMR][1000 genomes]
rs34905469	1.00[AMR][1000 genomes]
rs58634134	1.00[AMR][1000 genomes]
rs59619234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60735849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61408379	1.00[AMR][1000 genomes]
rs61564855	1.00[AMR][1000 genomes]
rs61745621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618491	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620041	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623537	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623543	0.90[AFR][1000 genomes]
rs73623553	0.90[AFR][1000 genomes]
rs73623558	1.00[AMR][1000 genomes]
rs73623598	1.00[AMR][1000 genomes]
rs73624817	1.00[AMR][1000 genomes]
rs73625237	0.80[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]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	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
17	esv1828064	chr19:37463270-37467305	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37463400-37465400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:37463400-37465400	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr19:37463600-37465400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:37463600-37465600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:37464400-37465400	Flanking Active TSS	Dnd41	blood
6	chr19:37464800-37465400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
7	chr19:37464800-37465400	Enhancers	Spleen	Spleen
8	chr19:37464800-37468600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:37464800-37468600	Weak transcription	Aorta	Aorta
10	chr19:37464800-37469200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:37464800-37470400	Weak transcription	HSMM	muscle
12	chr19:37464800-37470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:37464800-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
15	chr19:37465000-37465400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:37465000-37465400	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:37465000-37465400	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:37465000-37465400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:37465000-37465400	Enhancers	Fetal Heart	heart
20	chr19:37465000-37465400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:37465000-37465600	Enhancers	Fetal Brain Male	brain
22	chr19:37465000-37465600	Enhancers	Fetal Kidney	kidney
23	chr19:37465000-37465600	Enhancers	Fetal Lung	lung
24	chr19:37465000-37465800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr19:37465000-37465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr19:37465000-37466800	Weak transcription	Fetal Intestine Large	intestine
27	chr19:37465000-37467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:37465000-37468400	Weak transcription	Primary T cells from cord blood	blood
29	chr19:37465000-37468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:37465000-37468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:37465000-37468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:37465000-37468600	Weak transcription	Fetal Intestine Small	intestine
33	chr19:37465000-37468600	Weak transcription	Ovary	ovary
34	chr19:37465000-37468800	Weak transcription	Gastric	stomach
35	chr19:37465000-37468800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:37465000-37469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:37465000-37469200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:37465000-37469200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:37465000-37469200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:37465000-37469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:37465000-37470200	Weak transcription	Psoas Muscle	Psoas
42	chr19:37465000-37470200	Weak transcription	Osteobl	bone
43	chr19:37465000-37471600	Weak transcription	Brain Substantia Nigra	brain
44	chr19:37465000-37471600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:37465000-37471600	Weak transcription	Thymus	Thymus
46	chr19:37465000-37473600	Weak transcription	Small Intestine	intestine
47	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
48	chr19:37465200-37465400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:37465200-37465400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:37465200-37465400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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