Variant report

Variant	rs73046335
Chromosome Location	chr19:40861901-40861902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40861822-40862437	GM12878	blood:	n/a	n/a
2	BCL11A	chr19:40861814-40862191	GM12878	blood:	n/a	n/a
3	PML	chr19:40861607-40862551	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:40861809-40862962	GM12891	blood:	n/a	n/a
5	RUNX3	chr19:40861619-40862448	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:40861827-40862371	GM12891	blood:	n/a	n/a
7	BCLAF1	chr19:40861740-40862348	GM12878	blood:	n/a	n/a
8	SMC3	chr19:40861804-40862243	GM12878	blood:	n/a	n/a
9	EBF1	chr19:40861715-40862182	GM12878	blood:	n/a	chr19:40861953-40861964
10	SPI1	chr19:40861836-40862276	GM12878	blood:	n/a	n/a
11	HDAC2	chr19:40861647-40862018	K562	blood:	n/a	n/a
12	POU2F2	chr19:40861851-40862522	GM12891	blood:	n/a	n/a
13	SRF	chr19:40861861-40862154	GM12878	blood:	n/a	n/a
14	NFIC	chr19:40861819-40862334	GM12878	blood:	n/a	n/a
15	EBF1	chr19:40861769-40862220	GM12878	blood:	n/a	chr19:40861953-40861964
16	RCOR1	chr19:40861757-40861995	K562	blood:	n/a	n/a
17	IRF4	chr19:40861752-40862327	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr19:40861872-40862220	GM12878	blood:	n/a	n/a
19	POU2F2	chr19:40861778-40862348	GM12878	blood:	n/a	n/a
20	TCF12	chr19:40861893-40862173	GM12878	blood:	n/a	n/a
21	BHLHE40	chr19:40861856-40862280	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:40861894-40862382	GM12891	blood:	n/a	n/a
23	SPI1	chr19:40861845-40862304	GM12891	blood:	n/a	n/a
24	IRF4	chr19:40861740-40862386	GM12878	blood:	n/a	n/a
25	IKZF1	chr19:40861871-40862240	GM12878	blood:	n/a	n/a
26	EBF1	chr19:40861763-40862195	GM12878	blood:	n/a	chr19:40861953-40861964
27	ATF2	chr19:40861703-40862360	GM12878	blood:	n/a	n/a
28	RUNX3	chr19:40861588-40862519	GM12878	blood:	n/a	n/a
29	CUX1	chr19:40861877-40862196	GM12878	blood:	n/a	n/a
30	TAF1	chr19:40861875-40862303	GM12878	blood:	n/a	n/a
31	NFIC	chr19:40861714-40862611	GM12878	blood:	n/a	n/a
32	TCF12	chr19:40861881-40862182	GM12878	blood:	n/a	n/a
33	NFATC1	chr19:40861834-40862322	GM12878	blood:	n/a	n/a
34	YY1	chr19:40861787-40862304	GM12878	blood:	n/a	n/a
35	BATF	chr19:40861826-40862177	GM12878	blood:	n/a	n/a
36	PAX5	chr19:40861866-40862163	GM12878	blood:	n/a	n/a
37	SP1	chr19:40861862-40862183	GM12878	blood:	n/a	n/a
38	STAT5A	chr19:40861777-40862426	GM12878	blood:	n/a	chr19:40861943-40861955
39	RCOR1	chr19:40861857-40862331	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:40861873-40862427	GM12891	blood:	n/a	n/a
41	SPI1	chr19:40861636-40862536	GM12878	blood:	n/a	n/a
42	SPI1	chr19:40861820-40862259	GM12891	blood:	n/a	n/a
43	FOXM1	chr19:40861775-40862291	GM12878	blood:	n/a	n/a
44	CEBPB	chr19:40861737-40862337	GM12878	blood:	n/a	n/a
45	MTA3	chr19:40861547-40862746	GM12878	blood:	n/a	n/a
46	ZNF143	chr19:40861836-40862164	GM12878	blood:	n/a	n/a
47	MTA3	chr19:40861572-40862482	GM12878	blood:	n/a	n/a
48	YY1	chr19:40861832-40862155	K562	blood:	n/a	n/a
49	BCL11A	chr19:40861872-40862183	GM12878	blood:	n/a	n/a
50	YY1	chr19:40861818-40862285	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40861491..40863430-chr19:40866543..40869308,2	K562	blood:
2	chr19:40857735..40859819-chr19:40860082..40862864,2	K562	blood:
3	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11083554	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12151335	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12460615	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1962639	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1991460	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368575	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3745195	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4479364	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4490097	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502340	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4524046	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802072	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802076	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4803324	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803325	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803326	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803327	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803328	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55710016	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57158010	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58502633	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59263025	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7259273	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7507651	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7508513	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs890773	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	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
7	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:95 , 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	chr19:40855600-40862200	Weak transcription	Adipose Nuclei	Adipose
3	chr19:40855600-40862600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:40855600-40862800	Weak transcription	Brain Anterior Caudate	brain
5	chr19:40855600-40862800	Weak transcription	Fetal Lung	lung
6	chr19:40855600-40863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:40855600-40863200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:40855600-40863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:40855600-40863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:40855600-40863600	Weak transcription	Fetal Brain Female	brain
11	chr19:40855600-40863800	Weak transcription	Liver	Liver
12	chr19:40855600-40864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:40855600-40864000	Weak transcription	Spleen	Spleen
14	chr19:40855600-40864000	Weak transcription	NH-A	brain
15	chr19:40855600-40864400	Weak transcription	Placenta	Placenta
16	chr19:40855600-40865200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:40855600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:40855600-40865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:40855600-40865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:40855600-40865200	Weak transcription	Thymus	Thymus
21	chr19:40855600-40865200	Weak transcription	A549	lung
22	chr19:40855600-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:40855600-40865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:40855600-40865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:40855600-40865800	Weak transcription	K562	blood
26	chr19:40855600-40866000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:40855600-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:40855600-40866200	Weak transcription	Esophagus	oesophagus
29	chr19:40855600-40866600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:40855600-40868800	Weak transcription	HSMM	muscle
32	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:40855600-40869000	Weak transcription	Osteobl	bone
34	chr19:40855600-40870600	Weak transcription	Gastric	stomach
35	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
38	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
42	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
43	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
44	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
45	chr19:40855600-40871000	Weak transcription	NHEK	skin
46	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
50	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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