Variant report

Variant	rs528930911
Chromosome Location	chr3:140949856-140949857
allele	G/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	TAF1	chr3:140949820-140950701	GM12878	blood:	n/a	n/a
2	MYC	chr3:140949772-140951059	K562	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
3	POLR2A	chr3:140949742-140950737	PBDE	blood:	n/a	n/a
4	POLR2A	chr3:140949800-140950823	GM12892	blood:	n/a	n/a
5	TAF1	chr3:140949852-140950809	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:140949730-140950884	PFSK-1	brain:	n/a	n/a
7	STAT5A	chr3:140949755-140950621	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:140949841-140950575	GM12878	blood:	n/a	n/a
9	MTA3	chr3:140949665-140950717	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:140949628-140951109	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:140949830-140950713	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:140949337-140950966	NB4	blood:	n/a	n/a
13	E2F6	chr3:140949806-140950706	H1-hESC	embryonic stem cell:	n/a	chr3:140950233-140950243
14	POLR2A	chr3:140949460-140950726	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:140949720-140950743	GM12878	blood:	n/a	n/a
16	MAX	chr3:140949827-140950897	H1-hESC	embryonic stem cell:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
17	POLR2A	chr3:140949840-140950730	HL-60	blood:	n/a	n/a
18	POLR2A	chr3:140949813-140950653	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:140949839-140950659	GM12891	blood:	n/a	n/a
20	POLR2A	chr3:140949680-140950863	PFSK-1	brain:	n/a	n/a
21	RUNX3	chr3:140949730-140950721	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:140949762-140950695	GM12892	blood:	n/a	n/a
23	MAX	chr3:140949849-140950922	K562	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
24	MAX	chr3:140949754-140951108	A549	lung:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
25	MYC	chr3:140949610-140950980	NB4	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
26	POLR2A	chr3:140949825-140950572	U87	brain:	n/a	n/a
27	POLR2A	chr3:140949819-140950578	U87	brain:	n/a	n/a
28	MAX	chr3:140949783-140951094	A549	lung:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
29	POLR2A	chr3:140949841-140950772	GM18505	blood:	n/a	n/a
30	POLR2A	chr3:140949762-140950836	GM19193	blood:	n/a	n/a
31	POLR2A	chr3:140949831-140950816	GM19099	blood:	n/a	n/a
32	POLR2A	chr3:140949846-140950623	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr3:140949727-140950889	IMR90	lung:	n/a	n/a
34	SIN3A	chr3:140949842-140950917	H1-hESC	embryonic stem cell:	n/a	chr3:140950516-140950529 chr3:140950518-140950529
35	POLR2A	chr3:140949832-140950587	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:140949783-140950795	GM18526	blood:	n/a	n/a
37	POLR2A	chr3:140949762-140949868	K562	blood:	n/a	n/a
38	E2F6	chr3:140949655-140951024	H1-hESC	embryonic stem cell:	n/a	chr3:140950884-140950896 chr3:140949706-140949715 chr3:140950233-140950243
39	MAZ	chr3:140949829-140951794	IMR90	lung:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140951377-140951386
40	MAX	chr3:140949785-140950943	H1-hESC	embryonic stem cell:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
41	POLR2A	chr3:140949855-140950189	GM12891	blood:	n/a	n/a
42	POLR2A	chr3:140949774-140950589	GM12891	blood:	n/a	n/a
43	MAX	chr3:140949549-140950993	NB4	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255

No.	Distal block	Cell Line	Cell type
1	chr1:11969262..11970211-chr3:140949752..140950336,2	NB4	blood:
2	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:
3	chr3:140948029..140950002-chr3:141005104..141007914,2	MCF-7	breast:
4	chr3:140949685..140950639-chr3:140993821..140994433,2	MCF-7	breast:

Variant related genes	Relation type
ACPL2	TF binding region
ENSG00000155893	Chromatin interaction
ENSG00000201801	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3512631	chr3:140949362-140952160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3512632	chr3:140949362-140952160	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140945600-140950000	Enhancers	Fetal Lung	lung
2	chr3:140946000-140950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:140946000-140950000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:140947600-140950400	Flanking Active TSS	Dnd41	blood
5	chr3:140948800-140950000	Enhancers	HepG2	liver
6	chr3:140948800-140950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:140949400-140950000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:140949400-140950000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr3:140949400-140950200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr3:140949600-140950000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr3:140949600-140950000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr3:140949600-140950000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr3:140949600-140950000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr3:140949600-140950000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr3:140949600-140950000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr3:140949600-140950000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:140949600-140950000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:140949600-140950000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:140949600-140950000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr3:140949600-140950000	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr3:140949600-140950000	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr3:140949600-140950000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr3:140949600-140950000	Flanking Active TSS	Fetal Brain Male	brain
24	chr3:140949600-140950000	Flanking Active TSS	Fetal Heart	heart
25	chr3:140949600-140950000	Enhancers	Gastric	stomach
26	chr3:140949600-140950000	Flanking Active TSS	Thymus	Thymus
27	chr3:140949600-140950000	Flanking Active TSS	HSMM	muscle
28	chr3:140949600-140950000	Enhancers	NHDF-Ad	bronchial
29	chr3:140949600-140950200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:140949600-140950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:140949600-140950200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:140949600-140950200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr3:140949600-140950200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr3:140949600-140950200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr3:140949600-140950200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:140949600-140950200	Flanking Active TSS	Fetal Thymus	thymus
37	chr3:140949600-140950200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:140949600-140950200	Enhancers	Spleen	Spleen
39	chr3:140949600-140950200	Flanking Active TSS	NHLF	lung
40	chr3:140949600-140950400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:140949600-140950400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:140949600-140950400	Active TSS	Right Atrium	heart
46	chr3:140949600-140950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr3:140949600-140950400	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:140949600-140950400	Flanking Active TSS	HSMMtube	muscle
49	chr3:140949600-140950400	Flanking Active TSS	NH-A	brain
50	chr3:140949600-140950600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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