Variant report

Variant	rs4803328
Chromosome Location	chr19:40864479-40864480
allele	A/T
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	MTA3	chr19:40864466-40865035	GM12878	blood:	n/a	n/a
2	PAX5	chr19:40864458-40865092	GM12878	blood:	n/a	chr19:40864781-40864799
3	PML	chr19:40864437-40865084	GM12878	blood:	n/a	n/a
4	NFIC	chr19:40864461-40864990	GM12878	blood:	n/a	n/a
5	ATF2	chr19:40864472-40865036	GM12878	blood:	n/a	n/a
6	FOXM1	chr19:40864462-40865060	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40853920..40856703-chr19:40862603..40866302,4	K562	blood:
2	chr19:40854582..40856444-chr19:40862603..40865437,3	K562	blood:
3	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:

Variant related genes	Relation type
PLD3	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11083554	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11670295	0.90[AFR][1000 genomes]
rs12151335	0.85[ASN][1000 genomes]
rs12460615	0.86[ASN][1000 genomes]
rs1962639	0.85[ASN][1000 genomes]
rs1991460	0.83[ASN][1000 genomes]
rs3745195	0.86[ASN][1000 genomes]
rs3745198	0.90[AFR][1000 genomes]
rs3745199	0.90[AFR][1000 genomes]
rs4490097	0.85[ASN][1000 genomes]
rs4502340	0.87[ASN][1000 genomes]
rs4802076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803327	0.84[ASN][1000 genomes]
rs55710016	0.83[ASN][1000 genomes]
rs59263025	0.84[ASN][1000 genomes]
rs7259273	0.86[ASN][1000 genomes]
rs73046335	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7507651	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7508513	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855400-40864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:40855600-40865200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:40855600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:40855600-40865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:40855600-40865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:40855600-40865200	Weak transcription	Thymus	Thymus
7	chr19:40855600-40865200	Weak transcription	A549	lung
8	chr19:40855600-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:40855600-40865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:40855600-40865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:40855600-40865800	Weak transcription	K562	blood
12	chr19:40855600-40866000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:40855600-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:40855600-40866200	Weak transcription	Esophagus	oesophagus
15	chr19:40855600-40866600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:40855600-40868800	Weak transcription	HSMM	muscle
18	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:40855600-40869000	Weak transcription	Osteobl	bone
20	chr19:40855600-40870600	Weak transcription	Gastric	stomach
21	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
24	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
28	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
29	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
30	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
31	chr19:40855600-40871000	Weak transcription	NHEK	skin
32	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
36	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
39	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
42	chr19:40855600-40871400	Weak transcription	NHLF	lung
43	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:40855600-40872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:40855600-40872600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:40855600-40873400	Weak transcription	Aorta	Aorta
47	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
48	chr19:40855800-40868800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr19:40855800-40871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:40856600-40869000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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