Variant report

Variant	rs73612052
Chromosome Location	chr19:37173089-37173090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37171917..37174270-chr19:37177933..37180774,2	K562	blood:
2	chr19:37170168..37172761-chr19:37172837..37175354,2	MCF-7	breast:
3	chr19:37171965..37174267-chr19:37175474..37177630,2	K562	blood:

Variant related genes	Relation type
ENSG00000225975	Chromatin interaction
ENSG00000189042	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10408063	0.97[AFR][1000 genomes]
rs10408318	1.00[AFR][1000 genomes]
rs10411150	0.98[AFR][1000 genomes]
rs10413697	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414240	0.97[AFR][1000 genomes]
rs10417106	1.00[AFR][1000 genomes]
rs10417344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418271	0.97[AFR][1000 genomes]
rs10422700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425382	1.00[AFR][1000 genomes]
rs1227813	0.82[AFR][1000 genomes]
rs12459915	0.95[AFR][1000 genomes]
rs12462268	0.97[AFR][1000 genomes]
rs13345382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17468285	0.97[AFR][1000 genomes]
rs28418630	0.84[AFR][1000 genomes]
rs28465595	0.97[AFR][1000 genomes]
rs28472526	0.97[AFR][1000 genomes]
rs28645577	0.90[AFR][1000 genomes]
rs28742010	0.91[AFR][1000 genomes]
rs28818888	0.97[AFR][1000 genomes]
rs2912407	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2912409	1.00[AMR][1000 genomes]
rs2912418	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945986	1.00[AMR][1000 genomes]
rs2967425	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967428	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967430	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2967538	1.00[AMR][1000 genomes]
rs35621405	0.90[AFR][1000 genomes]
rs58245911	0.81[AFR][1000 genomes]
rs58880289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59951429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60268308	0.95[AFR][1000 genomes]
rs60615280	0.94[AFR][1000 genomes]
rs6510562	0.97[AFR][1000 genomes]
rs73607078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609133	0.97[AFR][1000 genomes]
rs73609981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612043	0.97[AFR][1000 genomes]
rs73612047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615692	0.97[AFR][1000 genomes]
rs73615693	0.89[AFR][1000 genomes]
rs73617803	0.93[AFR][1000 genomes]
rs8104355	0.92[AFR][1000 genomes]
rs8111419	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37158600-37177200	Weak transcription	Fetal Kidney	kidney
2	chr19:37158600-37177400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:37158600-37177400	Weak transcription	NHDF-Ad	bronchial
4	chr19:37158600-37177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:37159000-37177000	Weak transcription	NHLF	lung
6	chr19:37159200-37177600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:37159400-37177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:37159600-37176200	Weak transcription	Gastric	stomach
9	chr19:37159600-37177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:37160000-37177000	Weak transcription	Fetal Heart	heart
11	chr19:37163200-37177200	Weak transcription	Pancreas	Pancrea
12	chr19:37165000-37177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:37165600-37177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:37167600-37177000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:37167800-37177200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:37167800-37177400	Weak transcription	Colonic Mucosa	Colon
17	chr19:37168000-37177200	Weak transcription	NH-A	brain
18	chr19:37168400-37173400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:37168800-37173200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:37168800-37173200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:37168800-37173200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37168800-37174600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:37168800-37176400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:37168800-37176400	ZNF genes & repeats	Liver	Liver
25	chr19:37169000-37173200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:37169000-37173200	Strong transcription	Placenta	Placenta
27	chr19:37169200-37175400	Strong transcription	Primary B cells from cord blood	blood
28	chr19:37169200-37177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:37169200-37177200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:37169200-37177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:37169400-37176800	Weak transcription	HSMMtube	muscle
32	chr19:37169400-37177200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:37169600-37173400	Strong transcription	Dnd41	blood
34	chr19:37169600-37177400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:37169800-37173200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr19:37170000-37176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:37170400-37173200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:37170400-37176800	Weak transcription	Brain Anterior Caudate	brain
39	chr19:37170400-37177400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:37170600-37173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:37170600-37174000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:37170600-37174600	Strong transcription	Brain Germinal Matrix	brain
43	chr19:37170600-37175400	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:37170600-37176800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:37170600-37177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:37170600-37177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:37170800-37176800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:37170800-37177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:37170800-37177400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:37170800-37177400	Weak transcription	Brain Substantia Nigra	brain

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