Variant report

Variant	rs141542909
Chromosome Location	chr3:150802889-150802890
allele	-/GG
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	YY1	chr3:150802787-150803580	H1-hESC	embryonic stem cell:	n/a	chr3:150803171-150803180 chr3:150803468-150803482 chr3:150803338-150803352 chr3:150803351-150803365 chr3:150802961-150802978 chr3:150803467-150803476 chr3:150803335-150803349 chr3:150803171-150803182
2	SIN3AK20	chr3:150802876-150803707	MCF-7	breast:	n/a	n/a
3	MXI1	chr3:150802501-150805422	SK-N-SH	brain:	n/a	chr3:150804826-150804841
4	MAX	chr3:150802843-150803653	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr3:150802878-150803679	HepG2	liver:	n/a	n/a
6	MAX	chr3:150802752-150803654	MCF-7	breast:	n/a	n/a
7	HDAC2	chr3:150802487-150804970	MCF-7	breast:	n/a	chr3:150804268-150804282 chr3:150804266-150804280 chr3:150804271-150804285 chr3:150804272-150804286 chr3:150804269-150804283 chr3:150804274-150804288 chr3:150804273-150804287 chr3:150804270-150804284
8	HA-E2F1	chr3:150802599-150805300	MCF-7	breast:	n/a	chr3:150803777-150803786 chr3:150804137-150804146 chr3:150803467-150803476 chr3:150803923-150803933 chr3:150804412-150804422
9	MAX	chr3:150802850-150803676	HepG2	liver:	n/a	n/a
10	TEAD4	chr3:150802841-150803183	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr3:150802688-150803658	MCF-7	breast:	n/a	n/a
12	TCF12	chr3:150802759-150803704	ECC-1	luminal epithelium:	n/a	n/a
13	ELF1	chr3:150802582-150803682	MCF-7	breast:	n/a	chr3:150803052-150803061 chr3:150803339-150803351
14	POLR2A	chr3:150802637-150804991	H1-neurons	neurons:	n/a	n/a
15	TAF1	chr3:150802821-150803751	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr3:150802844-150803679	A549	lung:	n/a	chr3:150803467-150803476
17	RCOR1	chr3:150802494-150803795	IMR90	lung:	n/a	n/a
18	MAX	chr3:150802789-150803697	A549	lung:	n/a	n/a
19	MAX	chr3:150802817-150803602	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr3:150802880-150803630	A549	lung:	n/a	n/a
21	NR2F2	chr3:150802800-150803977	MCF-7	breast:	n/a	n/a
22	GATA3	chr3:150802715-150803481	MCF-7	breast:	n/a	chr3:150803384-150803397
23	POLR2A	chr3:150802460-150805057	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr3:150802647-150803549	H1-hESC	embryonic stem cell:	n/a	chr3:150803192-150803202
25	SIN3AK20	chr3:150802729-150803805	MCF-7	breast:	n/a	n/a
26	E2F6	chr3:150802558-150803615	H1-hESC	embryonic stem cell:	n/a	chr3:150803467-150803476
27	REST	chr3:150802810-150805193	H1-neurons	neurons:	n/a	chr3:150803352-150803365 chr3:150803253-150803266 chr3:150803469-150803482 chr3:150804290-150804303
28	MAX	chr3:150802819-150803572	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr3:150802681-150803601	H1-hESC	embryonic stem cell:	n/a	chr3:150803171-150803180 chr3:150803468-150803482 chr3:150803338-150803352 chr3:150803351-150803365 chr3:150802961-150802978 chr3:150803467-150803476 chr3:150803335-150803349 chr3:150803171-150803182
30	TBP	chr3:150802800-150803604	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr3:150802771-150803510	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr3:150802854-150803112	GM12878	blood:	n/a	chr3:150802961-150802978
33	GATA3	chr3:150802620-150803696	MCF-7	breast:	n/a	chr3:150803384-150803397
34	GATA1	chr3:150802753-150803625	PBDE	blood:	n/a	chr3:150803384-150803397
35	E2F6	chr3:150802878-150803552	H1-hESC	embryonic stem cell:	n/a	chr3:150803467-150803476
36	ZNF263	chr3:150802810-150803584	HEK293-T-REx	kidney:	n/a	n/a
37	YY1	chr3:150802815-150803124	SK-N-SH_RA	brain:	n/a	chr3:150802961-150802978
38	MAX	chr3:150802836-150803662	ECC-1	luminal epithelium:	n/a	n/a
39	EGR1	chr3:150802816-150803714	MCF-7	breast:	n/a	chr3:150803125-150803138 chr3:150803170-150803180 chr3:150803050-150803063
40	YY1	chr3:150802853-150803138	GM12878	blood:	n/a	chr3:150802961-150802978
41	JUND	chr3:150802808-150803731	MCF-7	breast:	n/a	chr3:150803373-150803387 chr3:150803170-150803179 chr3:150803171-150803180

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150795435..150798003-chr3:150801698..150803244,2	MCF-7	breast:

Variant related genes	Relation type
MED12L	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915879	chr3:150607390-150860207	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv829756	chr3:150692636-150889738	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2753152	chr3:150773248-150810545	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv877648	chr3:150792444-150895145	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3423677	chr3:150802287-150805135	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150802400-150803000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
2	chr3:150802400-150803000	Bivalent Enhancer	NHEK	skin
3	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr3:150802600-150803000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr3:150802600-150803000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr3:150802600-150803000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
9	chr3:150802600-150803000	Bivalent Enhancer	Liver	Liver
10	chr3:150802600-150803000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr3:150802600-150803000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
15	chr3:150802600-150803000	Bivalent/Poised TSS	Fetal Lung	lung
16	chr3:150802600-150803000	Bivalent Enhancer	Lung	lung
17	chr3:150802600-150803000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr3:150802600-150803000	Enhancers	Spleen	Spleen
19	chr3:150802600-150803200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:150802600-150803200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:150802600-150803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:150802600-150803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:150802600-150803200	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr3:150802600-150803200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
25	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Dnd41	blood
27	chr3:150802600-150805200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:150802600-150805400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:150802600-150805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:150802600-150805600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:150802600-150805600	Active TSS	Fetal Brain Female	brain
32	chr3:150802600-150805600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:150802600-150806600	Active TSS	Brain Angular Gyrus	brain
34	chr3:150802600-150806600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:150802600-150806800	Active TSS	Brain Cingulate Gyrus	brain
36	chr3:150802800-150803000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:150802800-150803000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:150802800-150803000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr3:150802800-150803000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:150802800-150803000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr3:150802800-150803000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:150802800-150803000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:150802800-150803000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
44	chr3:150802800-150803000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr3:150802800-150803000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:150802800-150803000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:150802800-150803000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr3:150802800-150803000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:150802800-150803000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:150802800-150803000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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