Variant report

Variant	rs528706957
Chromosome Location	chr3:150803144-150803145
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	MYC	chr3:150802955-150803585	MCF-7	breast:	n/a	n/a
2	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
3	POLR2A	chr3:150802969-150804053	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr3:150802876-150803707	MCF-7	breast:	n/a	n/a
5	BACH1	chr3:150802958-150803574	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr3:150802501-150805422	SK-N-SH	brain:	n/a	chr3:150804826-150804841
7	SP1	chr3:150803062-150803650	H1-hESC	embryonic stem cell:	n/a	chr3:150803174-150803183 chr3:150803173-150803182 chr3:150803172-150803184 chr3:150803172-150803184 chr3:150803173-150803187
8	MAX	chr3:150802843-150803653	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr3:150802878-150803679	HepG2	liver:	n/a	n/a
10	MAX	chr3:150802752-150803654	MCF-7	breast:	n/a	n/a
11	POLR2A	chr3:150803125-150804840	HEK293	kidney:	n/a	n/a
12	SP1	chr3:150803046-150803693	A549	lung:	n/a	chr3:150803174-150803183 chr3:150803173-150803182 chr3:150803172-150803184 chr3:150803172-150803184 chr3:150803173-150803187
13	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
14	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
15	MAX	chr3:150802850-150803676	HepG2	liver:	n/a	n/a
16	CTCF	chr3:150803100-150803250	GM12871	blood:	n/a	n/a
17	POLR2A	chr3:150803015-150803694	MCF-7	breast:	n/a	n/a
18	TEAD4	chr3:150802841-150803183	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF7	chr3:150803142-150803694	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr3:150802688-150803658	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:150803138-150803395	GM19240	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
22	TCF12	chr3:150802759-150803704	ECC-1	luminal epithelium:	n/a	n/a
23	SIN3A	chr3:150802895-150805441	H1-hESC	embryonic stem cell:	n/a	chr3:150804849-150804860 chr3:150803357-150803368 chr3:150804312-150804323
24	CTCF	chr3:150803040-150803190	BE2_C	brain:	n/a	chr3:150803082-150803095
25	ELF1	chr3:150802582-150803682	MCF-7	breast:	n/a	chr3:150803052-150803061 chr3:150803339-150803351
26	POLR2A	chr3:150802637-150804991	H1-neurons	neurons:	n/a	n/a
27	TAF1	chr3:150802821-150803751	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr3:150802844-150803679	A549	lung:	n/a	chr3:150803467-150803476
29	NRF1	chr3:150803056-150803682	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr3:150803027-150804216	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr3:150802494-150803795	IMR90	lung:	n/a	n/a
32	POLR2A	chr3:150803026-150804949	H1-neurons	neurons:	n/a	n/a
33	MAX	chr3:150802789-150803697	A549	lung:	n/a	n/a
34	MAX	chr3:150802817-150803602	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr3:150802880-150803630	A549	lung:	n/a	n/a
36	RAD21	chr3:150803065-150803571	H1-hESC	embryonic stem cell:	n/a	chr3:150803287-150803299 chr3:150803282-150803301
37	CTCF	chr3:150803140-150803290	NHEK	skin:	n/a	n/a
38	NR2F2	chr3:150802800-150803977	MCF-7	breast:	n/a	n/a
39	GATA3	chr3:150802715-150803481	MCF-7	breast:	n/a	chr3:150803384-150803397
40	JUND	chr3:150803097-150803519	H1-hESC	embryonic stem cell:	n/a	chr3:150803373-150803387 chr3:150803170-150803179 chr3:150803171-150803180
41	CTCF	chr3:150803140-150803290	GM12869	blood:	n/a	n/a
42	POLR2A	chr3:150802460-150805057	H1-hESC	embryonic stem cell:	n/a	n/a
43	HDAC2	chr3:150802930-150803502	MCF-7	breast:	n/a	n/a
44	YY1	chr3:150802991-150803719	HepG2	liver:	n/a	chr3:150803171-150803180 chr3:150803468-150803482 chr3:150803338-150803352 chr3:150803351-150803365 chr3:150803467-150803476 chr3:150803335-150803349 chr3:150803171-150803182
45	POLR2A	chr3:150803064-150803640	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr3:150803046-150803456	ECC-1	luminal epithelium:	n/a	n/a
47	ZNF143	chr3:150802647-150803549	H1-hESC	embryonic stem cell:	n/a	chr3:150803192-150803202
48	SIN3AK20	chr3:150802729-150803805	MCF-7	breast:	n/a	n/a
49	EP300	chr3:150803135-150803580	H1-hESC	embryonic stem cell:	n/a	chr3:150803340-150803349 chr3:150803355-150803371 chr3:150803340-150803356
50	E2F6	chr3:150802558-150803615	H1-hESC	embryonic stem cell:	n/a	chr3:150803467-150803476

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150802600-150803200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:150802600-150803200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150802600-150803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:150802600-150803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:150802600-150803200	Flanking Bivalent TSS/Enh	Placenta	Placenta
6	chr3:150802600-150803200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
7	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
8	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Dnd41	blood
9	chr3:150802600-150805200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:150802600-150805400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:150802600-150805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:150802600-150805600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr3:150802600-150805600	Active TSS	Fetal Brain Female	brain
14	chr3:150802600-150805600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:150802600-150806600	Active TSS	Brain Angular Gyrus	brain
16	chr3:150802600-150806600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:150802600-150806800	Active TSS	Brain Cingulate Gyrus	brain
18	chr3:150802800-150803200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:150802800-150803200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
21	chr3:150802800-150803200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr3:150802800-150803200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:150802800-150803200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr3:150802800-150803200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
28	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
29	chr3:150802800-150803200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr3:150802800-150803200	Flanking Active TSS	Gastric	stomach
36	chr3:150802800-150803200	Flanking Active TSS	Right Ventricle	heart
37	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
38	chr3:150802800-150803200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
39	chr3:150802800-150803400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:150802800-150803400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr3:150802800-150803600	Active TSS	Brain Germinal Matrix	brain
42	chr3:150802800-150803800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:150802800-150804200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr3:150802800-150805000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:150802800-150805000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:150802800-150805200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:150802800-150805200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:150802800-150805200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:150802800-150805400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr3:150802800-150805400	Active TSS	Right Atrium	heart

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