Variant report

Variant	rs559853181
Chromosome Location	chr3:146187845-146187846
allele	A/G
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	TCF7L2	chr3:146187660-146188483	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:146186860-146188567	Hela-S3	cervix:	n/a	n/a
3	ZNF384	chr3:146187540-146187987	K562	blood:	n/a	n/a
4	USF2	chr3:146187737-146187886	K562	blood:	n/a	n/a
5	POLR2A	chr3:146186964-146187845	PBDE	blood:	n/a	n/a
6	MAX	chr3:146186672-146187886	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
7	ELF1	chr3:146187013-146187915	K562	blood:	n/a	chr3:146187384-146187395 chr3:146187385-146187394
8	JUND	chr3:146187698-146187898	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:146186136-146187873	K562	blood:	n/a	n/a
10	RCOR1	chr3:146186669-146188613	K562	blood:	n/a	n/a
11	RFX5	chr3:146187574-146187883	Hela-S3	cervix:	n/a	n/a
12	IRF1	chr3:146186564-146187968	K562	blood:	n/a	chr3:146187127-146187147 chr3:146187174-146187188 chr3:146187448-146187461 chr3:146187127-146187140 chr3:146187448-146187461 chr3:146187125-146187139 chr3:146187127-146187141
13	HEY1	chr3:146186872-146187855	K562	blood:	n/a	chr3:146187527-146187542 chr3:146187591-146187606
14	TBP	chr3:146186929-146187950	K562	blood:	n/a	n/a
15	MAX	chr3:146187141-146187884	Hela-S3	cervix:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
16	POLR2A	chr3:146186644-146188093	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr3:146186787-146187915	K562	blood:	n/a	n/a
18	MAFF	chr3:146187712-146187857	K562	blood:	n/a	n/a
19	MAX	chr3:146186682-146187882	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
20	RCOR1	chr3:146187744-146187926	K562	blood:	n/a	n/a
21	ZC3H11A	chr3:146187831-146187850	K562	blood:	n/a	n/a
22	PML	chr3:146186975-146187954	K562	blood:	n/a	n/a
23	RCOR1	chr3:146187096-146187882	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr3:146186733-146187937	GM12891	blood:	n/a	n/a
25	MAX	chr3:146186898-146188015	A549	lung:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
26	POLR2A	chr3:146186662-146187909	K562	blood:	n/a	n/a
27	SMC3	chr3:146187625-146187873	Hela-S3	cervix:	n/a	n/a
28	MAX	chr3:146187010-146187853	A549	lung:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
29	MYC	chr3:146186695-146187989	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
30	POLR2A	chr3:146186669-146187960	K562	blood:	n/a	n/a
31	POLR2A	chr3:146186955-146187890	Hela-S3	cervix:	n/a	n/a
32	CUX1	chr3:146187574-146187959	K562	blood:	n/a	n/a
33	POLR2A	chr3:146186935-146187914	K562	blood:	n/a	n/a
34	TCF12	chr3:146186844-146187954	A549	lung:	n/a	n/a
35	MYC	chr3:146186852-146187855	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
36	GTF3C2	chr3:146187741-146188291	Hela-S3	cervix:	n/a	n/a
37	E2F6	chr3:146186972-146187945	A549	lung:	n/a	n/a
38	POLR2A	chr3:146186765-146187897	K562	blood:	n/a	n/a
39	POLR2A	chr3:146187013-146187879	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:146186956-146188038	PANC-1	pancreas:	n/a	n/a
41	MAZ	chr3:146186459-146187923	K562	blood:	n/a	chr3:146187570-146187579 chr3:146187177-146187187 chr3:146187349-146187358
42	TBP	chr3:146186962-146187884	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr3:146186621-146187895	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr3:146187051-146187858	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr3:146186946-146187890	K562	blood:	n/a	n/a
46	TAF1	chr3:146186904-146187982	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chr3:146186856-146187932	K562	blood:	n/a	chr3:146187387-146187394
48	POLR2A	chr3:146186876-146187927	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146187698..146189946-chr3:146195880..146197489,2	K562	blood:
2	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146186400-146188800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr3:146186600-146188000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:146186600-146188000	Active TSS	Primary T cells from cord blood	blood
4	chr3:146186600-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:146186600-146188600	Active TSS	Duodenum Mucosa	Duodenum
6	chr3:146186800-146188000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:146186800-146188000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr3:146186800-146188000	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr3:146186800-146188000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr3:146186800-146188000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr3:146186800-146188000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr3:146186800-146188000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:146186800-146188000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:146186800-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:146186800-146188000	Active TSS	Brain Angular Gyrus	brain
16	chr3:146186800-146188000	Active TSS	Brain Anterior Caudate	brain
17	chr3:146186800-146188000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:146186800-146188000	Active TSS	Fetal Kidney	kidney
19	chr3:146186800-146188000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr3:146187000-146188000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:146187000-146188000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:146187000-146188000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:146187000-146188000	Active TSS	Brain Cingulate Gyrus	brain
24	chr3:146187000-146188000	Active TSS	Brain Germinal Matrix	brain
25	chr3:146187000-146188000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:146187000-146188000	Active TSS	Colon Smooth Muscle	Colon
27	chr3:146187000-146188000	Enhancers	Fetal Brain Male	brain
28	chr3:146187000-146188000	Active TSS	Fetal Brain Female	brain
29	chr3:146187000-146188000	Active TSS	Ovary	ovary
30	chr3:146187000-146188000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr3:146187000-146188200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr3:146187000-146188200	Active TSS	Rectal Smooth Muscle	rectum
33	chr3:146187000-146188600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:146187200-146188000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:146187200-146188000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:146187200-146188000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:146187200-146188000	Active TSS	Brain Hippocampus Middle	brain
38	chr3:146187200-146188000	Active TSS	Stomach Mucosa	stomach
39	chr3:146187200-146188000	Active TSS	NHLF	lung
40	chr3:146187200-146188200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:146187200-146188400	Active TSS	A549	lung
42	chr3:146187200-146188400	Active TSS	Hela-S3	cervix
43	chr3:146187200-146188600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr3:146187400-146188000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:146187400-146188000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:146187400-146188000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr3:146187400-146188000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr3:146187400-146188000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:146187400-146188000	Active TSS	Fetal Muscle Trunk	muscle
50	chr3:146187400-146188000	Active TSS	Right Atrium	heart

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