Variant report

Variant	rs6832872
Chromosome Location	chr4:152640305-152640306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:152640010-152640464	H1-neurons	neurons:	n/a	n/a
2	STAT5A	chr4:152640121-152640508	GM12878	blood:	n/a	n/a
3	BCL3	chr4:152640109-152640481	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:152640084-152640872	H1-neurons	neurons:	n/a	n/a
5	KAP1	chr4:152640009-152640783	U2OS	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:152592436..152594592-chr4:152638948..152641316,2	K562	blood:
2	chr4:152639673..152642588-chr4:152644678..152647356,2	K562	blood:
3	chr4:152635107..152637288-chr4:152639699..152641567,2	K562	blood:
4	chr4:152635788..152637473-chr4:152638727..152641567,2	K562	blood:

No data

Variant related genes	Relation type
PET112	TF binding region
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10019048	1.00[ASW][hapmap]
rs1877187	1.00[ASW][hapmap];0.81[CEU][hapmap];0.93[MKK][hapmap]
rs4696285	1.00[ASW][hapmap]
rs6810860	1.00[ASW][hapmap]
rs6833368	1.00[ASW][hapmap]
rs6834095	1.00[ASW][hapmap]
rs6838966	1.00[ASW][hapmap]
rs6839074	1.00[ASW][hapmap]
rs6840360	1.00[ASW][hapmap]
rs6840678	1.00[ASW][hapmap]
rs6849050	1.00[ASW][hapmap]

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	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6832872	PET112L	cis	cerebellum	SCAN
rs6832872	PET112L	cis	lymphoblastoid	seeQTL
rs6832872	FAM160A1	cis	cerebellum	SCAN
rs6832872	SH3D19	cis	cerebellum	SCAN
rs6832872	PET112L	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:152598400-152648200	Weak transcription	HMEC	breast
5	chr4:152609600-152640400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:152612000-152651000	Weak transcription	K562	blood
8	chr4:152612400-152642600	Weak transcription	NHLF	lung
9	chr4:152614600-152651200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:152615000-152651000	Weak transcription	HSMM	muscle
11	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
12	chr4:152620600-152641200	Strong transcription	Primary T cells from cord blood	blood
13	chr4:152621400-152651600	Weak transcription	Small Intestine	intestine
14	chr4:152622000-152644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:152622600-152641000	Weak transcription	HSMMtube	muscle
16	chr4:152623000-152646200	Weak transcription	Fetal Lung	lung
17	chr4:152623200-152648200	Weak transcription	NHEK	skin
18	chr4:152623800-152642600	Weak transcription	Fetal Kidney	kidney
19	chr4:152624000-152645600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:152624000-152646400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:152625000-152651000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:152625200-152642400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:152627400-152641200	Weak transcription	Right Ventricle	heart
24	chr4:152629000-152658800	Weak transcription	Pancreas	Pancrea
25	chr4:152629200-152640800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:152629200-152642600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:152629200-152657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
29	chr4:152629400-152645600	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:152629400-152648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:152629400-152651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:152629400-152651200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:152629600-152648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:152631200-152651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:152633400-152657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:152633800-152641400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:152634800-152640800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:152634800-152641400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:152634800-152641400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:152635000-152641000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:152635200-152641400	Strong transcription	Liver	Liver
43	chr4:152636200-152644400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:152636600-152644600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:152636600-152647200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:152636600-152651000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:152636600-152651000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:152637000-152640800	Strong transcription	Fetal Stomach	stomach
49	chr4:152637000-152640800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:152637200-152640600	Strong transcription	Lung	lung

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