Variant report

Variant	rs4803329
Chromosome Location	chr19:40877284-40877285
allele	C/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	POLR2A	chr19:40876673-40878227	K562	blood:	n/a	n/a
2	MAX	chr19:40877106-40877970	K562	blood:	n/a	n/a
3	TBL1XR1	chr19:40876973-40877702	K562	blood:	n/a	n/a
4	MAZ	chr19:40877096-40877739	K562	blood:	n/a	n/a
5	TAL1	chr19:40876888-40877903	K562	blood:	n/a	n/a
6	MAFK	chr19:40877130-40877951	K562	blood:	n/a	n/a
7	ZNF143	chr19:40877096-40877711	K562	blood:	n/a	n/a
8	RCOR1	chr19:40876904-40877783	K562	blood:	n/a	n/a
9	ARID3A	chr19:40877006-40877397	K562	blood:	n/a	n/a
10	PML	chr19:40876858-40877297	K562	blood:	n/a	n/a
11	MAFF	chr19:40877128-40877722	K562	blood:	n/a	n/a
12	EP300	chr19:40876919-40877718	K562	blood:	n/a	n/a
13	IRF1	chr19:40877153-40877802	K562	blood:	n/a	n/a
14	GATA2	chr19:40876807-40877743	K562	blood:	n/a	chr19:40877051-40877058 chr19:40877051-40877058 chr19:40877051-40877058
15	NR2F2	chr19:40876807-40878091	K562	blood:	n/a	n/a
16	BHLHE40	chr19:40877146-40877915	K562	blood:	n/a	n/a
17	POLR2A	chr19:40876588-40878295	K562	blood:	n/a	n/a
18	CBX3	chr19:40876854-40877988	K562	blood:	n/a	n/a
19	GATA2	chr19:40876810-40877767	K562	blood:	n/a	chr19:40877051-40877058 chr19:40877051-40877058 chr19:40877051-40877058
20	TRIM28	chr19:40877232-40877800	K562	blood:	n/a	n/a
21	RCOR1	chr19:40876905-40877916	K562	blood:	n/a	n/a
22	TEAD4	chr19:40876790-40877803	K562	blood:	n/a	n/a
23	TEAD4	chr19:40876942-40877757	K562	blood:	n/a	n/a
24	ZNF143	chr19:40877270-40877300	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40870911..40872668-chr19:40875500..40877500,2	MCF-7	breast:
2	chr19:40876170..40877950-chr19:40949135..40950845,2	K562	blood:
3	chr19:40853028..40855563-chr19:40876148..40878218,2	K562	blood:
4	chr19:40877080..40879166-chr19:40881105..40883864,2	MCF-7	breast:

Variant related genes	Relation type
PLD3	TF binding region
ENSG00000268366	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11668006	1.00[CHD][hapmap]
rs12978012	0.83[ASN][1000 genomes]
rs1968359	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3760636	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4803331	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803334	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6508937	1.00[CHD][hapmap]
rs6508938	0.85[EUR][1000 genomes];0.96[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4803329	C5AR1	cis	parietal	SCAN
rs4803329	MEIS3	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40864000-40884400	Weak transcription	HepG2	liver
2	chr19:40866000-40877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:40869400-40878800	Weak transcription	HSMM	muscle
4	chr19:40869800-40880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:40871400-40878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40871400-40880400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:40871600-40880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:40871600-40881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40872000-40878800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:40872000-40880200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40872200-40880400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr19:40872200-40880800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40872200-40880800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr19:40872200-40881600	Weak transcription	GM12878-XiMat	blood
15	chr19:40872200-40887000	Strong transcription	Liver	Liver
16	chr19:40872200-40887400	Weak transcription	Primary B cells from cord blood	blood
17	chr19:40872200-40887400	Weak transcription	Stomach Mucosa	stomach
18	chr19:40872400-40878000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:40872400-40880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:40872400-40880400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:40872400-40881200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:40872400-40881400	Strong transcription	Ovary	ovary
23	chr19:40872400-40885600	Weak transcription	NHDF-Ad	bronchial
24	chr19:40872400-40886200	Weak transcription	HUVEC	blood vessel
25	chr19:40872600-40878200	Strong transcription	Right Ventricle	heart
26	chr19:40872600-40878400	Strong transcription	NHLF	lung
27	chr19:40872600-40880600	Strong transcription	Colon Smooth Muscle	Colon
28	chr19:40872600-40880800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr19:40872600-40883000	Strong transcription	Osteobl	bone
30	chr19:40872600-40884400	Strong transcription	Adipose Nuclei	Adipose
31	chr19:40872800-40879400	Weak transcription	Fetal Thymus	thymus
32	chr19:40872800-40880800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:40872800-40881200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:40872800-40882400	Weak transcription	HMEC	breast
35	chr19:40872800-40883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:40872800-40883800	Weak transcription	Hela-S3	cervix
37	chr19:40872800-40886600	Strong transcription	Brain Hippocampus Middle	brain
38	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
39	chr19:40873000-40878400	Strong transcription	Lung	lung
40	chr19:40873000-40880000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:40873000-40885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:40873000-40885600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:40873000-40886600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:40873000-40887000	Strong transcription	Primary T cells from cord blood	blood
45	chr19:40873000-40887000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:40873000-40887400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:40873000-40887800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:40873200-40877600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:40873200-40877600	Strong transcription	A549	lung
50	chr19:40873200-40881600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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