Variant report

Variant	rs73551749
Chromosome Location	chr19:39646483-39646484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr19:39646445-39646818	HEK293-T-REx	kidney:	n/a	chr19:39646654-39646663 chr19:39646643-39646664

No.	Distal block	Cell Line	Cell type
1	chr19:39645610..39647317-chr19:39897484..39899400,2	MCF-7	breast:
2	chr19:39613047..39614883-chr19:39644735..39646568,2	K562	blood:
3	chr19:39644386..39647038-chr19:39665325..39668037,2	MCF-7	breast:
4	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:

Variant related genes	Relation type
PAK4	TF binding region
ENSG00000130669	Chromatin interaction
ENSG00000269172	Chromatin interaction
ENSG00000128016	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11878229	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11878648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879084	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880984	1.00[EUR][1000 genomes]
rs11881029	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882668	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882711	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882955	1.00[EUR][1000 genomes]
rs16973211	1.00[AMR][1000 genomes]
rs16973231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57716250	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57769351	1.00[EUR][1000 genomes]
rs58626126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58909586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59303188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60229944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641657	1.00[EUR][1000 genomes]
rs7246294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254424	1.00[EUR][1000 genomes]
rs7260015	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549583	1.00[AMR][1000 genomes]
rs73549585	1.00[AMR][1000 genomes]
rs73549593	1.00[AMR][1000 genomes]
rs73549600	1.00[AMR][1000 genomes]
rs73551720	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551752	0.97[AFR][1000 genomes]
rs73551786	1.00[EUR][1000 genomes]
rs73553708	1.00[EUR][1000 genomes]
rs73553711	1.00[EUR][1000 genomes]
rs73553738	1.00[EUR][1000 genomes]
rs73553740	1.00[EUR][1000 genomes]
rs73553742	1.00[EUR][1000 genomes]
rs73930290	1.00[AMR][1000 genomes]
rs73930300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933809	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73933837	1.00[EUR][1000 genomes]
rs8101586	1.00[EUR][1000 genomes]
rs8111473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39618400-39646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:39624000-39647000	Weak transcription	NHLF	lung
4	chr19:39627200-39646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:39630800-39646800	Weak transcription	Osteobl	bone
6	chr19:39630800-39651000	Weak transcription	NHDF-Ad	bronchial
7	chr19:39631000-39660000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:39635400-39647000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:39635600-39647000	Weak transcription	NH-A	brain
10	chr19:39635600-39647400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:39636000-39647400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:39636000-39668200	Weak transcription	Primary B cells from cord blood	blood
13	chr19:39636400-39665600	Weak transcription	Aorta	Aorta
14	chr19:39636800-39650800	Weak transcription	HUVEC	blood vessel
15	chr19:39637000-39653600	Weak transcription	Brain Germinal Matrix	brain
16	chr19:39637200-39647000	Weak transcription	Small Intestine	intestine
17	chr19:39637400-39647400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:39637400-39660800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:39638000-39646800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:39638000-39661400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:39638200-39648600	Weak transcription	Brain Angular Gyrus	brain
22	chr19:39640000-39646600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:39640000-39647600	Weak transcription	HSMMtube	muscle
24	chr19:39640000-39648400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:39640000-39672600	Weak transcription	GM12878-XiMat	blood
26	chr19:39640200-39646600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:39640200-39647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:39640200-39647400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:39640200-39660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:39641200-39649200	Weak transcription	Fetal Brain Female	brain
31	chr19:39641400-39646600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:39642000-39649600	Enhancers	Placenta	Placenta
33	chr19:39642200-39647400	Weak transcription	Right Atrium	heart
34	chr19:39642400-39646600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:39642400-39647000	Weak transcription	HSMM	muscle
36	chr19:39642400-39649000	Weak transcription	Thymus	Thymus
37	chr19:39642600-39646600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:39643400-39648200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:39644200-39646600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:39644200-39652200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr19:39644400-39647400	Enhancers	Liver	Liver
42	chr19:39644400-39648800	Enhancers	Gastric	stomach
43	chr19:39644400-39649600	Enhancers	Pancreas	Pancrea
44	chr19:39644400-39651800	Genic enhancers	Fetal Intestine Small	intestine
45	chr19:39644600-39646600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr19:39644600-39647200	Enhancers	Colonic Mucosa	Colon
47	chr19:39644600-39647200	Enhancers	HMEC	breast
48	chr19:39644600-39647400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr19:39644600-39647800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr19:39644600-39647800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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