Variant report

Variant	rs190616733
Chromosome Location	chr12:26274835-26274836
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	SPI1	chr12:26274465-26275054	GM12878	blood:	n/a	n/a
2	SUZ12	chr12:26274778-26276717	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:26274618-26275005	H1-neurons	neurons:	n/a	n/a
4	SPI1	chr12:26274509-26275113	HL-60	blood:	n/a	n/a
5	MYC	chr12:26274809-26274941	H1-hESC	embryonic stem cell:	n/a	n/a
6	SPI1	chr12:26274748-26274941	GM12878	blood:	n/a	n/a
7	MAX	chr12:26274729-26276830	NB4	blood:	n/a	chr12:26276172-26276188 chr12:26276177-26276192 chr12:26276183-26276192 chr12:26276176-26276195
8	SIN3AK20	chr12:26274664-26277000	PANC-1	pancreas:	n/a	n/a
9	SPI1	chr12:26274609-26275058	GM12891	blood:	n/a	n/a
10	SUZ12	chr12:26274316-26278522	NT2-D1	testis:	n/a	n/a
11	E2F6	chr12:26274291-26274853	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:26274723-26275239	U87	brain:	n/a	n/a
13	SPI1	chr12:26274631-26275047	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:26274284-26275147	H1-neurons	neurons:	n/a	n/a
15	SPI1	chr12:26274729-26274903	K562	blood:	n/a	n/a
16	BACH1	chr12:26274809-26274989	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:26274154-26275369	PANC-1	pancreas:	n/a	n/a
18	SPI1	chr12:26274629-26275082	HL-60	blood:	n/a	n/a
19	SPI1	chr12:26274671-26275024	GM12878	blood:	n/a	n/a
20	SIN3A	chr12:26274362-26275012	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:26274089-26279927	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr12:26274226-26275245	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:

Variant related genes	Relation type
SSPN	TF binding region
ENSG00000256894	Chromatin interaction
ENSG00000123095	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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3407309	chr12:26274110-26277058	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3381594	chr12:26274535-26276833	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
3	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:26273400-26275000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:26273400-26280000	Active TSS	Right Atrium	heart
9	chr12:26273600-26275000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:26273600-26275000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr12:26273600-26276000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
13	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
14	chr12:26273800-26275000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr12:26273800-26275000	Weak transcription	Esophagus	oesophagus
16	chr12:26273800-26275000	Flanking Active TSS	HMEC	breast
17	chr12:26273800-26275800	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
19	chr12:26274200-26275000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:26274200-26275200	Flanking Active TSS	NH-A	brain
23	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
24	chr12:26274400-26275000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr12:26274400-26275000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr12:26274400-26275000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:26274400-26275000	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr12:26274400-26275000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr12:26274400-26275800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:26274400-26276000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:26274400-26279800	Active TSS	NHDF-Ad	bronchial
32	chr12:26274400-26280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr12:26274600-26275000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr12:26274600-26275000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr12:26274600-26275000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:26274600-26275000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:26274600-26275000	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr12:26274600-26275000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:26274600-26275000	Enhancers	Fetal Heart	heart
45	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr12:26274600-26275000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr12:26274600-26275000	Flanking Active TSS	Placenta	Placenta
48	chr12:26274600-26275000	Bivalent Enhancer	Small Intestine	intestine
49	chr12:26274600-26275000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr12:26274600-26275000	Bivalent/Poised TSS	Thymus	Thymus

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