Variant report

Variant	rs190532374
Chromosome Location	chr12:117175409-117175410
allele	A/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	SP1	chr12:117175367-117176612	HCT-116	colon:	n/a	chr12:117175884-117175896 chr12:117176063-117176084 chr12:117175953-117175974 chr12:117175886-117175895 chr12:117175873-117175882 chr12:117175985-117175996 chr12:117175885-117175894 chr12:117175884-117175896
2	ELF1	chr12:117175352-117176384	MCF-7	breast:	n/a	chr12:117175885-117175897
3	POLR2A	chr12:117175307-117176591	Raji	blood:	n/a	n/a
4	MAX	chr12:117175392-117176495	Hela-S3	cervix:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
5	GATA1	chr12:117175054-117176269	PBDE	blood:	n/a	chr12:117176124-117176132
6	SPI1	chr12:117175404-117175734	GM12891	blood:	n/a	n/a
7	ZNF263	chr12:117174095-117176469	HEK293-T-REx	kidney:	n/a	chr12:117175450-117175471 chr12:117175567-117175576 chr12:117175385-117175406 chr12:117175429-117175450
8	JUN	chr12:117175008-117176480	K562	blood:	n/a	n/a
9	TCF7L2	chr12:117175382-117176632	HCT-116	colon:	n/a	chr12:117176441-117176448 chr12:117176436-117176450 chr12:117176440-117176449
10	RFX5	chr12:117174654-117177903	SK-N-SH	brain:	n/a	chr12:117174964-117174973 chr12:117174962-117174976 chr12:117176118-117176127
11	POLR2A	chr12:117175402-117176373	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:117174942-117176498	HepG2	liver:	n/a	n/a
13	CHD2	chr12:117175407-117176412	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr12:117174770-117176667	IMR90	lung:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
15	POLR2A	chr12:117175253-117176217	K562	blood:	n/a	n/a
16	MAZ	chr12:117174765-117176248	K562	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
17	MAX	chr12:117175054-117176672	HCT-116	colon:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
18	MAX	chr12:117175368-117176445	GM12878	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
19	POLR2A	chr12:117175149-117176335	PBDE	blood:	n/a	n/a
20	HA-E2F1	chr12:117175404-117176389	MCF-7	breast:	n/a	chr12:117175886-117175895
21	SIN3A	chr12:117174905-117176556	H1-hESC	embryonic stem cell:	n/a	chr12:117175866-117175875 chr12:117175894-117175905
22	SIN3AK20	chr12:117175365-117176794	MCF-7	breast:	n/a	n/a
23	GTF2F1	chr12:117175199-117176411	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr12:117174549-117177000	SK-N-SH	brain:	n/a	chr12:117175866-117175875
25	SIN3A	chr12:117175400-117176407	GM12878	blood:	n/a	chr12:117175866-117175875 chr12:117175894-117175905
26	SP1	chr12:117175219-117176627	HCT-116	colon:	n/a	chr12:117175884-117175896 chr12:117176063-117176084 chr12:117175953-117175974 chr12:117175886-117175895 chr12:117175873-117175882 chr12:117175985-117175996 chr12:117175885-117175894 chr12:117175884-117175896
27	REST	chr12:117175397-117176888	H1-neurons	neurons:	n/a	chr12:117176100-117176113
28	CREB1	chr12:117175404-117176623	GM12878	blood:	n/a	n/a
29	RCOR1	chr12:117175063-117176577	K562	blood:	n/a	n/a
30	UBTF	chr12:117174708-117176114	K562	blood:	n/a	n/a
31	POLR2A	chr12:117175404-117176470	PFSK-1	brain:	n/a	n/a
32	MXI1	chr12:117174812-117176419	IMR90	lung:	n/a	chr12:117175866-117175875

No.	Distal block	Cell Line	Cell type
1	chr12:117174912..117176575-chr12:117346883..117348986,2	MCF-7	breast:
2	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
3	chr12:117175239..117175990-chr9:34329401..34330121,2	NB4	blood:
4	chr12:117155749..117159803-chr12:117174359..117177084,5	MCF-7	breast:
5	chr12:117155609..117158442-chr12:117174031..117175991,2	MCF-7	breast:

Variant related genes	Relation type
RNFT2	TF binding region
ENSG00000135116	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000164978	Chromatin interaction
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv3335855	chr12:117175307-117175442	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117174000-117175600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:117174000-117175600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr12:117174000-117176600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:117174000-117176600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:117174000-117176600	Active TSS	Lung	lung
6	chr12:117174000-117177000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:117174000-117177200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:117174200-117175600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:117174200-117176200	Active TSS	Fetal Intestine Small	intestine
10	chr12:117174200-117176400	Active TSS	HSMM	muscle
11	chr12:117174200-117176800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:117174200-117176800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:117174200-117177200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:117174400-117175600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr12:117174400-117175600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:117174400-117175600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:117174400-117175600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr12:117174400-117176200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:117174400-117176200	Active TSS	HSMMtube	muscle
20	chr12:117174400-117176400	Active TSS	NHDF-Ad	bronchial
21	chr12:117174400-117176600	Active TSS	Aorta	Aorta
22	chr12:117174400-117176600	Active TSS	Gastric	stomach
23	chr12:117174400-117176600	Active TSS	Right Atrium	heart
24	chr12:117174400-117177000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:117174400-117177000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:117174600-117175600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:117174600-117175800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:117174600-117176400	Active TSS	Fetal Lung	lung
29	chr12:117174600-117176400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr12:117174600-117176600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:117174600-117176600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:117174600-117176600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:117174600-117176800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:117174600-117176800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:117174600-117176800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:117174600-117176800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:117174600-117176800	Active TSS	Fetal Kidney	kidney
38	chr12:117174800-117175800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr12:117174800-117176200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:117174800-117176200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:117174800-117176200	Active TSS	Colon Smooth Muscle	Colon
42	chr12:117174800-117176200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr12:117174800-117176200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:117174800-117176400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:117174800-117176400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr12:117174800-117176400	Active TSS	Small Intestine	intestine
47	chr12:117174800-117176400	Active TSS	GM12878-XiMat	blood
48	chr12:117174800-117176400	Active TSS	Hela-S3	cervix
49	chr12:117174800-117176400	Active TSS	NHEK	skin
50	chr12:117174800-117176600	Active TSS	HUES64 Cell Line	embryonic stem cell

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