Variant report

Variant	rs567464906
Chromosome Location	chr3:150802670-150802671
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	MXI1	chr3:150802501-150805422	SK-N-SH	brain:	n/a	chr3:150804826-150804841
2	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
3	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
4	ELF1	chr3:150802582-150803682	MCF-7	breast:	n/a	chr3:150803052-150803061 chr3:150803339-150803351
5	POLR2A	chr3:150802637-150804991	H1-neurons	neurons:	n/a	n/a
6	RCOR1	chr3:150802494-150803795	IMR90	lung:	n/a	n/a
7	POLR2A	chr3:150802460-150805057	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr3:150802647-150803549	H1-hESC	embryonic stem cell:	n/a	chr3:150803192-150803202
9	E2F6	chr3:150802558-150803615	H1-hESC	embryonic stem cell:	n/a	chr3:150803467-150803476
10	POLR2A	chr3:150802602-150802673	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr3:150802620-150803696	MCF-7	breast:	n/a	chr3:150803384-150803397

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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150795600-150802800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:150801400-150802800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:150802200-150802800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
4	chr3:150802400-150802800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:150802400-150802800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr3:150802400-150802800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr3:150802400-150802800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:150802400-150802800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr3:150802400-150802800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:150802400-150803000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr3:150802400-150803000	Bivalent Enhancer	NHEK	skin
12	chr3:150802600-150802800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:150802600-150802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:150802600-150802800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr3:150802600-150802800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr3:150802600-150802800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:150802600-150802800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
21	chr3:150802600-150802800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
24	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
25	chr3:150802600-150802800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:150802600-150802800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:150802600-150802800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr3:150802600-150802800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr3:150802600-150802800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr3:150802600-150802800	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr3:150802600-150802800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr3:150802600-150802800	Bivalent Enhancer	Fetal Brain Male	brain
33	chr3:150802600-150802800	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr3:150802600-150802800	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr3:150802600-150802800	Bivalent Enhancer	Fetal Thymus	thymus
36	chr3:150802600-150802800	Active TSS	Gastric	stomach
37	chr3:150802600-150802800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr3:150802600-150802800	Bivalent Enhancer	Thymus	Thymus
39	chr3:150802600-150802800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr3:150802600-150802800	Bivalent/Poised TSS	NH-A	brain
41	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr3:150802600-150803000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr3:150802600-150803000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr3:150802600-150803000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
47	chr3:150802600-150803000	Bivalent Enhancer	Liver	Liver
48	chr3:150802600-150803000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr3:150802600-150803000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:150802600-150803000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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