Variant report

Variant	rs150178337
Chromosome Location	chr12:123636601-123636602
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123636202-123636761	GM12891	blood:	n/a	n/a
2	MYC	chr12:123636599-123636660	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:123636399-123636789	GM12892	blood:	n/a	n/a
4	MTA3	chr12:123635763-123636971	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:123636525-123637082	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr12:123636007-123636813	K562	blood:	n/a	n/a
7	POLR2A	chr12:123636239-123636794	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:123635667-123637029	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
10	POLR2A	chr12:123635871-123638687	K562	blood:	n/a	n/a
11	SRF	chr12:123636084-123636731	ECC-1	luminal epithelium:	n/a	chr12:123636416-123636427 chr12:123636415-123636426 chr12:123636417-123636426 chr12:123636413-123636427
12	POLR2A	chr12:123636384-123636837	GM12892	blood:	n/a	n/a
13	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
14	POLR2A	chr12:123636513-123636701	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:123635655-123637074	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr12:123635827-123636603	HL-60	blood:	n/a	n/a
17	FOSL2	chr12:123635918-123636705	HepG2	liver:	n/a	n/a
18	CTCF	chr12:123635285-123636728	A549	lung:	n/a	chr12:123636446-123636455 chr12:123636264-123636273
19	POLR2A	chr12:123635791-123636771	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:123636456-123636680	A549	lung:	n/a	n/a
21	POLR2A	chr12:123635916-123636786	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:123635551-123636635	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr12:123635795-123637073	HL-60	blood:	n/a	n/a
24	BCL3	chr12:123635853-123636704	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
25	POLR2A	chr12:123636510-123636659	GM12878	blood:	n/a	n/a
26	SRF	chr12:123635887-123636630	ECC-1	luminal epithelium:	n/a	chr12:123636416-123636427 chr12:123636415-123636426 chr12:123636417-123636426 chr12:123636413-123636427
27	MYC	chr12:123636561-123636657	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:123636470-123636738	HepG2	liver:	n/a	n/a
29	ZNF263	chr12:123635772-123636902	HEK293-T-REx	kidney:	n/a	chr12:123635832-123635841
30	SIN3A	chr12:123635444-123636629	H1-hESC	embryonic stem cell:	n/a	chr12:123636133-123636146 chr12:123635450-123635461 chr12:123636524-123636532 chr12:123636518-123636531
31	POLR2A	chr12:123635568-123637092	K562	blood:	n/a	n/a
32	PML	chr12:123635994-123636603	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:123635758-123636805	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:123635983-123636865	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:123636019-123636880	GM12892	blood:	n/a	n/a
36	POLR2A	chr12:123636590-123636671	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
2	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
3	chr12:123617700..123620555-chr12:123634870..123636855,3	MCF-7	breast:
4	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
5	chr12:123634768..123637262-chr12:124085657..124088192,2	K562	blood:
6	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
7	chr12:123633613..123635147-chr12:123636492..123638541,2	MCF-7	breast:
8	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
9	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
10	chr12:123636212..123638464-chr12:123674064..123676672,2	K562	blood:
11	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
12	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
13	chr12:123635702..123637213-chr14:50040000..50041712,2	MCF-7	breast:
14	chr12:123635970..123638934-chr12:124084716..124087509,2	MCF-7	breast:
15	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
16	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
17	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:
18	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
19	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
20	chr12:123635116..123639048-chr12:123716065..123719246,5	K562	blood:
21	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
22	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
23	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
24	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
25	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:

No data

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000111364	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111325	Chromatin interaction

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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3439435	chr12:123634349-123637047	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3440997	chr12:123634424-123637372	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123634800-123636800	Active TSS	Thymus	Thymus
2	chr12:123636000-123636800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123636000-123636800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr12:123636000-123636800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:123636000-123636800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:123636000-123636800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr12:123636000-123637000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123636000-123637000	Enhancers	Fetal Brain Male	brain
9	chr12:123636200-123636800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:123636200-123636800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:123636200-123636800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr12:123636200-123636800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:123636200-123636800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr12:123636200-123636800	Flanking Active TSS	Fetal Lung	lung
15	chr12:123636200-123636800	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr12:123636200-123636800	Flanking Active TSS	Hela-S3	cervix
17	chr12:123636200-123637000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:123636200-123637000	Enhancers	Spleen	Spleen
19	chr12:123636200-123637200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
20	chr12:123636400-123636800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:123636400-123636800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:123636400-123636800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:123636400-123636800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:123636400-123636800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:123636400-123636800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:123636400-123636800	Enhancers	Fetal Heart	heart
27	chr12:123636400-123636800	Enhancers	Fetal Intestine Large	intestine
28	chr12:123636400-123636800	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr12:123636400-123636800	Enhancers	Placenta	Placenta
30	chr12:123636400-123636800	Enhancers	Left Ventricle	heart
31	chr12:123636400-123636800	Enhancers	Psoas Muscle	Psoas
32	chr12:123636400-123636800	Enhancers	Right Ventricle	heart
33	chr12:123636400-123636800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:123636400-123636800	Enhancers	A549	lung
35	chr12:123636400-123636800	Flanking Active TSS	HepG2	liver
36	chr12:123636400-123636800	Enhancers	HUVEC	blood vessel
37	chr12:123636400-123636800	Enhancers	NHLF	lung
38	chr12:123636400-123637000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:123636400-123637000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr12:123636400-123637000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:123636400-123637000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:123636400-123637000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:123636400-123637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:123636400-123637000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr12:123636400-123637000	Enhancers	Primary B cells from cord blood	blood
46	chr12:123636400-123637000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:123636400-123637000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:123636400-123637000	Enhancers	Fetal Muscle Leg	muscle
49	chr12:123636400-123637000	Enhancers	Fetal Stomach	stomach
50	chr12:123636400-123637000	Enhancers	Lung	lung

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