Variant report

Variant	rs529491423
Chromosome Location	chr3:146187374-146187375
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	SIN3AK20	chr3:146186927-146187479	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr3:146186935-146187700	A549	lung:	n/a	n/a
3	POLR2A	chr3:146186860-146188567	Hela-S3	cervix:	n/a	n/a
4	SMARCB1	chr3:146186980-146187827	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:146186965-146187478	K562	blood:	n/a	n/a
6	RAD21	chr3:146187038-146187806	H1-hESC	embryonic stem cell:	n/a	chr3:146187486-146187496
7	ELF1	chr3:146187057-146187599	K562	blood:	n/a	chr3:146187384-146187395 chr3:146187385-146187394
8	POLR2A	chr3:146186896-146187776	GM18526	blood:	n/a	n/a
9	MAZ	chr3:146187093-146187817	Hela-S3	cervix:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
10	TAF1	chr3:146187002-146187518	K562	blood:	n/a	n/a
11	MAX	chr3:146187040-146187438	K562	blood:	n/a	chr3:146187177-146187187 chr3:146187349-146187358
12	ELK1	chr3:146187261-146187405	GM12878	blood:	n/a	n/a
13	MXI1	chr3:146187053-146187446	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr3:146187043-146187771	K562	blood:	n/a	n/a
15	SP1	chr3:146187003-146187607	A549	lung:	n/a	chr3:146187402-146187409 chr3:146187177-146187191 chr3:146187176-146187188 chr3:146187176-146187188 chr3:146187178-146187187 chr3:146187176-146187187 chr3:146187204-146187215 chr3:146187177-146187186 chr3:146187177-146187187 chr3:146187206-146187215
16	ELF1	chr3:146187081-146187551	GM12878	blood:	n/a	chr3:146187384-146187395 chr3:146187385-146187394
17	CCNT2	chr3:146186907-146187771	K562	blood:	n/a	n/a
18	ZNF143	chr3:146187136-146187421	K562	blood:	n/a	n/a
19	MAX	chr3:146186962-146187817	A549	lung:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
20	CHD2	chr3:146187095-146187522	K562	blood:	n/a	n/a
21	POLR2A	chr3:146187107-146187505	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr3:146187032-146187573	H1-hESC	embryonic stem cell:	n/a	chr3:146187177-146187187 chr3:146187349-146187358
23	RAD21	chr3:146186972-146187510	H1-hESC	embryonic stem cell:	n/a	chr3:146187486-146187496
24	TAL1	chr3:146186730-146187486	K562	blood:	n/a	n/a
25	E2F6	chr3:146187048-146187762	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:146186968-146187773	A549	lung:	n/a	n/a
27	TCF12	chr3:146187100-146187521	GM12878	blood:	n/a	n/a
28	MAX	chr3:146187017-146187680	H1-hESC	embryonic stem cell:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
29	TAF7	chr3:146187080-146187742	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:146186964-146187845	PBDE	blood:	n/a	n/a
31	BHLHE40	chr3:146186860-146187744	K562	blood:	n/a	chr3:146187589-146187605 chr3:146187584-146187600
32	E2F6	chr3:146187076-146187494	A549	lung:	n/a	n/a
33	SIN3A	chr3:146186936-146187774	H1-hESC	embryonic stem cell:	n/a	chr3:146187598-146187609
34	SP1	chr3:146186849-146187648	A549	lung:	n/a	chr3:146187402-146187409 chr3:146187177-146187191 chr3:146187176-146187188 chr3:146187176-146187188 chr3:146187178-146187187 chr3:146187176-146187187 chr3:146187204-146187215 chr3:146187177-146187186 chr3:146187177-146187187 chr3:146187206-146187215
35	ZEB1	chr3:146186854-146187655	GM12878	blood:	n/a	n/a
36	MAX	chr3:146186672-146187886	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
37	TCF12	chr3:146187112-146187453	H1-hESC	embryonic stem cell:	n/a	n/a
38	GABPA	chr3:146186972-146187570	K562	blood:	n/a	chr3:146187498-146187512 chr3:146187501-146187515
39	ELF1	chr3:146187013-146187915	K562	blood:	n/a	chr3:146187384-146187395 chr3:146187385-146187394
40	TCF12	chr3:146187179-146187500	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:146187026-146187666	A549	lung:	n/a	n/a
42	TCF3	chr3:146186998-146187727	GM12878	blood:	n/a	chr3:146187363-146187377
43	ZBTB7A	chr3:146187034-146187758	K562	blood:	n/a	chr3:146187548-146187557
44	MAX	chr3:146187075-146187809	H1-hESC	embryonic stem cell:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
45	POLR2A	chr3:146186136-146187873	K562	blood:	n/a	n/a
46	RCOR1	chr3:146186669-146188613	K562	blood:	n/a	n/a
47	RCOR1	chr3:146187223-146187466	K562	blood:	n/a	n/a
48	CTCF	chr3:146187260-146187410	GM12867	blood:	n/a	n/a
49	ZKSCAN1	chr3:146187223-146187843	Hela-S3	cervix:	n/a	n/a
50	USF2	chr3:146187189-146187453	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146187253..146187846-chr6:27804931..27805821,2	Hela-S3	cervix:

Variant related genes	Relation type
PLSCR2	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv877618	chr3:146096182-146192324	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv877622	chr3:146131961-146219740	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146186400-146187600	Flanking Active TSS	Osteobl	bone
2	chr3:146186400-146188800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr3:146186600-146187600	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:146186600-146188000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:146186600-146188000	Active TSS	Primary T cells from cord blood	blood
6	chr3:146186600-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:146186600-146188600	Active TSS	Duodenum Mucosa	Duodenum
8	chr3:146186800-146187400	Active TSS	Primary B cells from cord blood	blood
9	chr3:146186800-146187400	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr3:146186800-146187600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr3:146186800-146187600	Flanking Active TSS	Pancreas	Pancrea
12	chr3:146186800-146187800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr3:146186800-146187800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr3:146186800-146187800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:146186800-146187800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:146186800-146187800	Active TSS	Liver	Liver
17	chr3:146186800-146187800	Active TSS	Colonic Mucosa	Colon
18	chr3:146186800-146187800	Active TSS	Fetal Intestine Large	intestine
19	chr3:146186800-146187800	Active TSS	Fetal Intestine Small	intestine
20	chr3:146186800-146188000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:146186800-146188000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:146186800-146188000	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr3:146186800-146188000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr3:146186800-146188000	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr3:146186800-146188000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr3:146186800-146188000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:146186800-146188000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:146186800-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:146186800-146188000	Active TSS	Brain Angular Gyrus	brain
30	chr3:146186800-146188000	Active TSS	Brain Anterior Caudate	brain
31	chr3:146186800-146188000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:146186800-146188000	Active TSS	Fetal Kidney	kidney
33	chr3:146186800-146188000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:146187000-146187400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:146187000-146187400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:146187000-146187400	Active TSS	Primary hematopoietic stem cells	blood
37	chr3:146187000-146187400	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr3:146187000-146187400	Flanking Active TSS	Placenta	Placenta
39	chr3:146187000-146187400	Flanking Active TSS	Right Ventricle	heart
40	chr3:146187000-146187400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr3:146187000-146187400	Flanking Active TSS	Thymus	Thymus
42	chr3:146187000-146187400	Flanking Active TSS	GM12878-XiMat	blood
43	chr3:146187000-146187400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr3:146187000-146187600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:146187000-146187600	Flanking Active TSS	Esophagus	oesophagus
46	chr3:146187000-146187600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr3:146187000-146187600	Flanking Active TSS	Left Ventricle	heart
48	chr3:146187000-146187600	Flanking Active TSS	Lung	lung
49	chr3:146187000-146187600	Active TSS	HSMM	muscle
50	chr3:146187000-146187600	Flanking Active TSS	HUVEC	blood vessel

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