Variant report

Variant	rs73929170
Chromosome Location	chr19:37176855-37176856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:37176788-37177062	GM12891	blood:	n/a	n/a
2	SPI1	chr19:37176821-37177098	HL-60	blood:	n/a	n/a
3	SPI1	chr19:37176821-37176938	GM12878	blood:	n/a	n/a
4	SPI1	chr19:37176731-37177160	HL-60	blood:	n/a	n/a
5	SPI1	chr19:37176766-37177070	GM12891	blood:	n/a	n/a
6	SPI1	chr19:37176774-37177092	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36977782..36980646-chr19:37176349..37177933,2	K562	blood:
2	chr19:36705027..36707515-chr19:37176765..37178367,2	MCF-7	breast:
3	chr19:37157483..37161085-chr19:37175435..37180024,4	MCF-7	breast:
4	chr19:37171965..37174267-chr19:37175474..37177630,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF461-1	chr19:37176739-37176917	ENSG00000225975.1
2	lnc-ZNF461-1	chr19:37176216-37176917	ENSG00000225975.1
3	lnc-ZNF461-1	chr19:37176367-37176917	ENSG00000225975.2
4	lnc-ZNF461-1	chr19:37173807-37176917	NONHSAT066036
5	lnc-ZNF461-1	chr19:37176739-37176872	NONHSAT066037

No data

Variant related genes	Relation type
ZNF567	TF binding region
ENSG00000196357	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000197808	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55837819	1.00[AMR][1000 genomes]
rs55858494	1.00[AMR][1000 genomes]
rs55885724	1.00[AFR][1000 genomes]
rs55981753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162945	1.00[AMR][1000 genomes]
rs56261527	1.00[AMR][1000 genomes]
rs56836606	1.00[AFR][1000 genomes]
rs56890549	1.00[AMR][1000 genomes]
rs57422489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57586526	1.00[AFR][1000 genomes]
rs57678022	1.00[AFR][1000 genomes]
rs58078073	1.00[AFR][1000 genomes]
rs58361065	0.83[AFR][1000 genomes]
rs58403474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60132516	1.00[AFR][1000 genomes]
rs60808598	1.00[AFR][1000 genomes]
rs61082544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61481244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929009	1.00[AFR][1000 genomes]
rs73929011	1.00[AFR][1000 genomes]
rs73929123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929129	1.00[AMR][1000 genomes]
rs73929134	1.00[AMR][1000 genomes]
rs73929171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931028	1.00[AFR][1000 genomes]
rs73931029	1.00[AFR][1000 genomes]
rs73931030	1.00[AFR][1000 genomes]
rs73931036	1.00[AFR][1000 genomes]
rs73931037	1.00[AFR][1000 genomes]
rs73931038	1.00[AFR][1000 genomes]
rs73931040	1.00[AFR][1000 genomes]
rs73931626	1.00[AFR][1000 genomes]
rs73931627	1.00[AFR][1000 genomes]
rs73931629	1.00[AFR][1000 genomes]
rs73931634	1.00[AFR][1000 genomes]
rs73931636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931639	1.00[AFR][1000 genomes];1.00[AMR][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:110 , 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	chr19:37159600-37177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:37160000-37177000	Weak transcription	Fetal Heart	heart
10	chr19:37163200-37177200	Weak transcription	Pancreas	Pancrea
11	chr19:37165000-37177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:37165600-37177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:37167600-37177000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:37167800-37177200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:37167800-37177400	Weak transcription	Colonic Mucosa	Colon
16	chr19:37168000-37177200	Weak transcription	NH-A	brain
17	chr19:37169200-37177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:37169200-37177200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:37169200-37177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:37169400-37177200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:37169600-37177400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:37170400-37177400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:37170600-37177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:37170600-37177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:37170800-37177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:37170800-37177400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:37170800-37177400	Weak transcription	Brain Substantia Nigra	brain
28	chr19:37171000-37177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:37171000-37177400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:37171000-37177400	Weak transcription	Fetal Lung	lung
31	chr19:37171200-37177200	Weak transcription	NHEK	skin
32	chr19:37171600-37177200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:37171600-37177200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:37171600-37177200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:37171800-37177000	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:37171800-37177200	Weak transcription	Psoas Muscle	Psoas
37	chr19:37171800-37177400	Weak transcription	Right Ventricle	heart
38	chr19:37172000-37177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:37172200-37177400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:37172400-37177200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:37172600-37177200	Weak transcription	Thymus	Thymus
42	chr19:37172800-37177200	ZNF genes & repeats	A549	lung
43	chr19:37173000-37177000	Weak transcription	Fetal Intestine Small	intestine
44	chr19:37173000-37177200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:37173000-37177400	Weak transcription	Fetal Intestine Large	intestine
46	chr19:37173000-37177600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:37173000-37177600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:37173200-37177000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:37173200-37177000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:37173200-37177000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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