Variant report

Variant	rs183036398
Chromosome Location	chr3:150479540-150479541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150476883-150483109	HepG2	liver:	n/a	n/a
2	TAF1	chr3:150479535-150479915	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr3:150479220-150482056	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:150479212-150482050	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:150479339-150482294	Hela-S3	cervix:	n/a	n/a
6	MYC	chr3:150479370-150479930	K562	blood:	n/a	n/a
7	POLR2A	chr3:150479540-150479996	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:150479483-150480497	Hela-S3	cervix:	n/a	n/a
9	TCF12	chr3:150479285-150480348	A549	lung:	n/a	n/a
10	SIN3AK20	chr3:150479517-150480072	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr3:150479370-150482380	A549	lung:	n/a	chr3:150480869-150480882
12	POLR2A	chr3:150478964-150483373	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:150479014-150480086	HepG2	liver:	n/a	n/a
14	JUND	chr3:150479511-150479887	A549	lung:	n/a	n/a
15	POLR2A	chr3:150479474-150481991	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:150479511-150479915	K562	blood:	n/a	n/a
17	POLR2A	chr3:150479265-150481757	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr3:150479333-150482028	HUVEC	blood vessel:	n/a	n/a
19	MXI1	chr3:150477822-150483051	SK-N-SH	brain:	n/a	n/a
20	HEY1	chr3:150479530-150480464	HepG2	liver:	n/a	n/a
21	POLR2A	chr3:150479501-150479964	HCT-116	colon:	n/a	n/a
22	TAF1	chr3:150479503-150480009	A549	lung:	n/a	n/a
23	MAX	chr3:150479535-150479923	K562	blood:	n/a	n/a
24	USF1	chr3:150479536-150479946	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr3:150479433-150482597	MCF10A-Er-Src	breast:	n/a	n/a
26	SIN3A	chr3:150479535-150481984	H1-hESC	embryonic stem cell:	n/a	chr3:150481403-150481417
27	MAX	chr3:150479538-150480004	NB4	blood:	n/a	n/a
28	UBTF	chr3:150479473-150482060	K562	blood:	n/a	n/a
29	HDAC2	chr3:150479471-150480538	MCF-7	breast:	n/a	chr3:150480098-150480112 chr3:150480101-150480115 chr3:150480099-150480113 chr3:150480100-150480114 chr3:150480097-150480111 chr3:150480102-150480116
30	MYC	chr3:150479537-150480057	K562	blood:	n/a	n/a
31	ARID3A	chr3:150479387-150479661	K562	blood:	n/a	n/a
32	ZNF384	chr3:150479518-150480259	K562	blood:	n/a	n/a
33	MAX	chr3:150479402-150479998	MCF-7	breast:	n/a	n/a
34	HEY1	chr3:150479432-150480501	HepG2	liver:	n/a	n/a
35	RFX5	chr3:150479392-150479915	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr3:150479507-150479891	HUVEC	blood vessel:	n/a	n/a
37	USF2	chr3:150479365-150479937	Hela-S3	cervix:	n/a	n/a
38	MAX	chr3:150479456-150482134	MCF-7	breast:	n/a	n/a
39	MAX	chr3:150479518-150482099	Hela-S3	cervix:	n/a	n/a
40	MAX	chr3:150479390-150482214	A549	lung:	n/a	n/a
41	HCFC1	chr3:150479171-150482342	Hela-S3	cervix:	n/a	n/a
42	MAX	chr3:150479508-150480082	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr3:150479489-150479991	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr3:150479452-150479925	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr3:150479530-150479910	U87	brain:	n/a	n/a
46	MAFK	chr3:150479532-150479988	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr3:150479509-150482067	GM12878	blood:	n/a	n/a
48	MAX	chr3:150479436-150480097	ECC-1	luminal epithelium:	n/a	n/a
49	MXI1	chr3:150479400-150482134	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr3:150479510-150480041	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
2	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
3	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
4	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
5	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
6	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
7	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
8	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:

No data

Variant related genes	Relation type
SIAH2-AS1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244668	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv592035	chr3:150478018-150481021	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv592036	chr3:150478018-150481236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
4	esv1820145	chr3:150478018-150487945	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3420624	chr3:150478562-150482960	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3375203	chr3:150479287-150481835	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150471200-150479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:150471600-150479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:150475000-150479800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr3:150475400-150480400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:150477200-150479800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr3:150477200-150480400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr3:150477400-150480000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:150477600-150479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:150477600-150479600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr3:150477600-150479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:150477600-150480200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:150477600-150480400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr3:150477800-150479600	Weak transcription	Gastric	stomach
14	chr3:150477800-150479800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr3:150477800-150479800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr3:150477800-150480000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr3:150478000-150479600	Weak transcription	Spleen	Spleen
18	chr3:150478000-150479800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr3:150478000-150479800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr3:150478000-150480000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:150478000-150482200	Active TSS	Thymus	Thymus
23	chr3:150478200-150479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:150478200-150479600	Flanking Active TSS	Fetal Brain Male	brain
25	chr3:150478200-150479600	Weak transcription	Lung	lung
26	chr3:150478200-150479800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr3:150478200-150480400	Bivalent/Poised TSS	HepG2	liver
28	chr3:150478200-150480800	Active TSS	Right Atrium	heart
29	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
31	chr3:150478200-150482000	Active TSS	Ovary	ovary
32	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
34	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
35	chr3:150478200-150482400	Active TSS	Placenta	Placenta
36	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
37	chr3:150478400-150479600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr3:150478400-150479600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:150478400-150479600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr3:150478400-150479800	Flanking Active TSS	Dnd41	blood
41	chr3:150478400-150482000	Active TSS	HSMM	muscle
42	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
44	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:150478600-150479600	Weak transcription	Esophagus	oesophagus
46	chr3:150478600-150479600	Flanking Active TSS	Fetal Lung	lung
47	chr3:150478600-150479600	Weak transcription	Pancreas	Pancrea
48	chr3:150478600-150480000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr3:150478600-150480400	Active TSS	Stomach Mucosa	stomach
50	chr3:150478600-150481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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