Variant report

Variant	rs530391301
Chromosome Location	chr3:150803268-150803269
allele	C/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	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	CTCF	chr3:150803180-150803330	Caco-2	colon:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
6	BACH1	chr3:150802958-150803574	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr3:150802501-150805422	SK-N-SH	brain:	n/a	chr3:150804826-150804841
8	CTCF	chr3:150803196-150803349	Fibrobl	skin:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
9	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
10	MAX	chr3:150802843-150803653	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr3:150802878-150803679	HepG2	liver:	n/a	n/a
12	MAX	chr3:150802752-150803654	MCF-7	breast:	n/a	n/a
13	POLR2A	chr3:150803125-150804840	HEK293	kidney:	n/a	n/a
14	SP1	chr3:150803046-150803693	A549	lung:	n/a	chr3:150803174-150803183 chr3:150803173-150803182 chr3:150803172-150803184 chr3:150803172-150803184 chr3:150803173-150803187
15	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
16	RUNX3	chr3:150803195-150803595	GM12878	blood:	n/a	n/a
17	CTCF	chr3:150803180-150803330	GM12874	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
18	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
19	SP1	chr3:150803170-150803631	H1-hESC	embryonic stem cell:	n/a	chr3:150803174-150803183 chr3:150803173-150803182 chr3:150803172-150803184 chr3:150803172-150803184 chr3:150803173-150803187
20	JUND	chr3:150803247-150803568	H1-hESC	embryonic stem cell:	n/a	chr3:150803373-150803387
21	MAX	chr3:150802850-150803676	HepG2	liver:	n/a	n/a
22	JUND	chr3:150803172-150803601	A549	lung:	n/a	chr3:150803373-150803387
23	SIN3AK20	chr3:150803148-150803522	H1-hESC	embryonic stem cell:	n/a	n/a
24	GATA3	chr3:150803154-150803483	T-47D	breast:	n/a	chr3:150803384-150803397
25	CTCF	chr3:150803160-150803310	GM12865	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
26	RUNX3	chr3:150803233-150803506	GM12878	blood:	n/a	n/a
27	MAX	chr3:150803174-150803645	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr3:150803015-150803694	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:150803201-150803362	SK-N-SH_RA	brain:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
30	CTCF	chr3:150803260-150803410	BE2_C	brain:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
31	CTCF	chr3:150803160-150803310	GM06990	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
32	POLR2A	chr3:150803201-150803562	A549	lung:	n/a	n/a
33	CTCF	chr3:150803200-150803370	GM12878	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
34	POLR2A	chr3:150803200-150803615	PBDE	blood:	n/a	n/a
35	TAF7	chr3:150803142-150803694	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr3:150802688-150803658	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:150803138-150803395	GM19240	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
38	TCF12	chr3:150802759-150803704	ECC-1	luminal epithelium:	n/a	n/a
39	FOXA1	chr3:150803183-150803545	T-47D	breast:	n/a	n/a
40	TAF1	chr3:150803197-150803661	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr3:150803204-150803558	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr3:150802895-150805441	H1-hESC	embryonic stem cell:	n/a	chr3:150804849-150804860 chr3:150803357-150803368 chr3:150804312-150804323
43	CTCF	chr3:150803196-150803376	LNCaP	prostate:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
44	CTCF	chr3:150803146-150803415	GM19238	blood:	n/a	chr3:150803281-150803299 chr3:150803284-150803297
45	POLR2A	chr3:150803171-150803704	HCT-116	colon:	n/a	n/a
46	ELF1	chr3:150802582-150803682	MCF-7	breast:	n/a	chr3:150803052-150803061 chr3:150803339-150803351
47	POLR2A	chr3:150802637-150804991	H1-neurons	neurons:	n/a	n/a
48	E2F6	chr3:150803254-150803473	K562	blood:	n/a	n/a
49	TAF1	chr3:150802821-150803751	H1-hESC	embryonic stem cell:	n/a	n/a
50	E2F6	chr3:150802844-150803679	A549	lung:	n/a	chr3:150803467-150803476

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
2	chr3:150802600-150803400	Flanking Bivalent TSS/Enh	Dnd41	blood
3	chr3:150802600-150805200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:150802600-150805400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:150802600-150805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:150802600-150805600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:150802600-150805600	Active TSS	Fetal Brain Female	brain
8	chr3:150802600-150805600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr3:150802600-150806600	Active TSS	Brain Angular Gyrus	brain
10	chr3:150802600-150806600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:150802600-150806800	Active TSS	Brain Cingulate Gyrus	brain
12	chr3:150802800-150803400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:150802800-150803400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr3:150802800-150803600	Active TSS	Brain Germinal Matrix	brain
15	chr3:150802800-150803800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:150802800-150804200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr3:150802800-150805000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr3:150802800-150805000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:150802800-150805200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:150802800-150805200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:150802800-150805200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:150802800-150805400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr3:150802800-150805400	Active TSS	Right Atrium	heart
24	chr3:150802800-150805600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:150802800-150805600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:150802800-150805600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:150802800-150805600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:150802800-150806000	Active TSS	Brain Substantia Nigra	brain
29	chr3:150803000-150803400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr3:150803000-150803400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr3:150803000-150803400	Flanking Active TSS	Liver	Liver
32	chr3:150803000-150803400	Active TSS	Fetal Heart	heart
33	chr3:150803000-150803400	Flanking Active TSS	Left Ventricle	heart
34	chr3:150803000-150803400	Flanking Active TSS	Lung	lung
35	chr3:150803000-150803400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr3:150803000-150803400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:150803000-150803400	Flanking Active TSS	Spleen	Spleen
38	chr3:150803000-150803400	Flanking Active TSS	HMEC	breast
39	chr3:150803000-150803400	Flanking Active TSS	HUVEC	blood vessel
40	chr3:150803000-150803800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:150803000-150804000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr3:150803000-150804000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:150803000-150804400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr3:150803000-150804400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr3:150803000-150804600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr3:150803000-150804800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:150803000-150804800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr3:150803000-150804800	Active TSS	Esophagus	oesophagus
49	chr3:150803000-150805000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr3:150803000-150805000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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