Variant report

Variant	rs11669391
Chromosome Location	chr19:40867851-40867852
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40867671-40867878	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40867809-40867859	AG10803	skin:	n/a
2	chr19:40867809-40867859	H1-hESC	embryonic stem cell:	embryo
3	chr19:40867809-40867859	U87	brain:	n/a
4	chr19:40867809-40867859	GM06990	blood:	n/a
5	chr19:40867809-40867859	GM12892	blood:	n/a
6	chr19:40867809-40867859	HCM	heart:	n/a
7	chr19:40867809-40867859	HNPCEpiC	eye:	n/a
8	chr19:40867809-40867859	HMEC	breast:	n/a
9	chr19:40867809-40867859	RPTEC	kidney:	n/a
10	chr19:40867809-40867859	Jurkat	blood:	n/a
11	chr19:40867809-40867859	HepG2	liver:	n/a
12	chr19:40867809-40867859	ovcar-3	ovarian:	n/a
13	chr19:40867809-40867859	AG04449	skin:	fetal
14	chr19:40867809-40867859	Caco-2	colon:	n/a
15	chr19:40867809-40867859	Hela-S3	cervix:	n/a
16	chr19:40867809-40867859	SKMC	muscle:	n/a
17	chr19:40867809-40867859	MCF10A-Er-Src	breast:	n/a
18	chr19:40867809-40867859	HEEpiC	esophagus:	n/a
19	chr19:40867809-40867859	HAEpiC	amniotic membrane:	n/a
20	chr19:40867809-40867859	SK-N-SH	brain:	n/a
21	chr19:40867809-40867859	NT2-D1	testis:	n/a
22	chr19:40867809-40867859	LNCaP	prostate:	n/a
23	chr19:40867809-40867859	NH-A	brain:	n/a
24	chr19:40867809-40867859	IMR90	lung:	fetal
25	chr19:40867809-40867859	HRCEpiC	kidney:	n/a
26	chr19:40867809-40867859	SK-N-SH_RA	brain:	n/a
27	chr19:40867809-40867859	AoSMC	blood vessel:	n/a
28	chr19:40867809-40867859	HL-60	blood:	n/a
29	chr19:40867809-40867859	A549	lung:	n/a
30	chr19:40867809-40867859	CMK	blood:	n/a
31	chr19:40867809-40867859	NHDF-neo	bronchial:	n/a
32	chr19:40867809-40867859	HCF	heart:	n/a
33	chr19:40867809-40867859	MCF-7	breast:	n/a
34	chr19:40867809-40867859	T-47D	breast:	n/a
35	chr19:40867809-40867859	BE2_C	brain:	n/a
36	chr19:40867809-40867859	PrEC	prostate:	n/a
37	chr19:40867809-40867859	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:40867809-40867859	HUVEC	blood vessel:	n/a
39	chr19:40867809-40867859	HCPEpiC	choroid plexus:	n/a
40	chr19:40867809-40867859	NHBE	bronchial:	n/a
41	chr19:40867809-40867859	GM19239	blood:	n/a
42	chr19:40867809-40867859	HRPEpiC	eye:	n/a
43	chr19:40867809-40867859	Hepatocyte	liver:	n/a
44	chr19:40867809-40867859	PFSK-1	brain:	n/a
45	chr19:40867809-40867859	SAEC	small airway:	n/a
46	chr19:40867809-40867859	GM12878	blood:	n/a
47	chr19:40867809-40867859	AG09319	gingival:	n/a
48	chr19:40867809-40867859	HRE	kidney:	n/a
49	chr19:40867809-40867859	ECC-1	luminal epithelium:	n/a
50	chr19:40867809-40867859	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40861491..40863430-chr19:40866543..40869308,2	K562	blood:
2	chr19:40867361..40869232-chr19:40871913..40874491,3	MCF-7	breast:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11670295	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11672825	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745198	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3745199	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62107636	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:40855600-40868800	Weak transcription	HSMM	muscle
3	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:40855600-40869000	Weak transcription	Osteobl	bone
5	chr19:40855600-40870600	Weak transcription	Gastric	stomach
6	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
9	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
13	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
14	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
15	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
16	chr19:40855600-40871000	Weak transcription	NHEK	skin
17	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
21	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
24	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
27	chr19:40855600-40871400	Weak transcription	NHLF	lung
28	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:40855600-40872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:40855600-40872600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40855600-40873400	Weak transcription	Aorta	Aorta
32	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
33	chr19:40855800-40868800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr19:40855800-40871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:40856600-40869000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:40856600-40873600	Weak transcription	Psoas Muscle	Psoas
37	chr19:40857800-40871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:40861600-40871400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:40861800-40868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr19:40862000-40868200	Weak transcription	Fetal Thymus	thymus
41	chr19:40862600-40871000	Weak transcription	Ovary	ovary
42	chr19:40863400-40868800	Strong transcription	Fetal Stomach	stomach
43	chr19:40863400-40871000	Weak transcription	Pancreas	Pancrea
44	chr19:40863600-40871400	Weak transcription	Brain Anterior Caudate	brain
45	chr19:40863800-40871400	Weak transcription	Fetal Lung	lung
46	chr19:40864000-40869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:40864000-40871000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:40864000-40871000	Weak transcription	Brain Substantia Nigra	brain
49	chr19:40864000-40871200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:40864000-40871200	Weak transcription	Fetal Kidney	kidney

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