Variant report

Variant	rs528005978
Chromosome Location	chr12:29302425-29302426
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	CREB1	chr12:29302395-29303101	H1-hESC	embryonic stem cell:	n/a	n/a
2	HMGN3	chr12:29301938-29302921	K562	blood:	n/a	n/a
3	POLR2A	chr12:29301843-29303600	PBDE	blood:	n/a	n/a
4	TAF1	chr12:29301274-29303258	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:29301084-29302716	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:29301057-29303694	NB4	blood:	n/a	n/a
7	MYC	chr12:29301931-29302824	K562	blood:	n/a	chr12:29302778-29302787
8	GTF2B	chr12:29302145-29302508	K562	blood:	n/a	n/a
9	MYC	chr12:29301019-29303692	NB4	blood:	n/a	chr12:29302778-29302787
10	POLR2A	chr12:29302155-29302551	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr12:29301680-29302428	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr12:29301319-29303437	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr12:29302378-29302612	K562	blood:	n/a	n/a
14	HEY1	chr12:29301821-29302766	K562	blood:	n/a	chr12:29302131-29302146
15	POLR2A	chr12:29301889-29302624	GM12878	blood:	n/a	n/a
16	RELA	chr12:29301580-29302627	GM19099	blood:	n/a	n/a
17	MAX	chr12:29301000-29303723	NB4	blood:	n/a	chr12:29302778-29302787
18	POLR2A	chr12:29301785-29302848	K562	blood:	n/a	n/a
19	UBTF	chr12:29301971-29302449	K562	blood:	n/a	n/a
20	MAX	chr12:29301961-29302663	K562	blood:	n/a	n/a
21	POLR2A	chr12:29301874-29302688	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:29301843-29303059	GM15510	blood:	n/a	n/a
23	POLR2A	chr12:29301746-29302708	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr12:29301120-29303297	GM18951	blood:	n/a	n/a
25	POLR2A	chr12:29301864-29303100	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:29301473-29303046	HUVEC	blood vessel:	n/a	n/a
27	E2F6	chr12:29301892-29303005	K562	blood:	n/a	chr12:29302114-29302125 chr12:29302762-29302769 chr12:29302115-29302126 chr12:29302115-29302122 chr12:29302762-29302769 chr12:29302115-29302122 chr12:29302762-29302769 chr12:29302114-29302123 chr12:29302535-29302545 chr12:29302173-29302185 chr12:29302115-29302122 chr12:29302110-29302125 chr12:29302567-29302581 chr12:29302084-29302096 chr12:29302104-29302114
28	POLR2A	chr12:29301337-29303433	HL-60	blood:	n/a	n/a
29	JUND	chr12:29301893-29302547	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:29302231-29302446	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr12:29301851-29302547	MCF10A-Er-Src	breast:	n/a	n/a
32	TBP	chr12:29301278-29303167	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:29301757-29302662	K562	blood:	n/a	n/a
34	TAF7	chr12:29301789-29302570	H1-hESC	embryonic stem cell:	n/a	n/a
35	BHLHE40	chr12:29301956-29302429	K562	blood:	n/a	n/a
36	POLR2A	chr12:29300990-29303986	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr12:29301823-29302575	K562	blood:	n/a	chr12:29302131-29302146
38	POLR2A	chr12:29301410-29303310	GM18526	blood:	n/a	n/a
39	POLR2A	chr12:29301921-29302605	Gliobla	brain:	n/a	n/a
40	POLR2A	chr12:29301889-29302719	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr12:29302002-29302469	SK-N-MC	brain:	n/a	n/a
42	EGR1	chr12:29302305-29302636	K562	blood:	n/a	chr12:29302441-29302451
43	TAF1	chr12:29301852-29302514	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr12:29301882-29302451	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:29301007-29302822	HUVEC	blood vessel:	n/a	n/a
46	MYC	chr12:29302259-29302539	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBP	chr12:29302168-29302872	K562	blood:	n/a	n/a
48	POLR2A	chr12:29301906-29302584	K562	blood:	n/a	n/a
49	POLR2A	chr12:29301406-29303379	GM19193	blood:	n/a	n/a
50	MAX	chr12:29301785-29303294	H1-hESC	embryonic stem cell:	n/a	chr12:29302778-29302787

No.	Distal block	Cell Line	Cell type
1	chr12:29301993..29302856-chr5:180670405..180671354,2	NB4	blood:
2	chr12:29301993..29302516-chr6:31802207..31802861,2	NB4	blood:
3	chr12:29301948..29302516-chr6:28806299..28806949,2	NB4	blood:
4	chr11:88070898..88071694-chr12:29302232..29303122,2	NB4	blood:
5	chr12:29302116..29302733-chr13:52025571..52026304,2	NB4	blood:

Variant related genes	Relation type
ENSG00000257258	TF binding region
ENSG00000109861	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000225173	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000204387	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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv819469	chr12:29285461-29303486	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3337951	chr12:29288734-29303032	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv33168	chr12:29301452-29303155	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29300600-29303200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:29301000-29302600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:29301000-29302600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29301000-29303000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:29301000-29303000	Active TSS	Brain Substantia Nigra	brain
6	chr12:29301000-29303200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:29301000-29303200	Active TSS	Psoas Muscle	Psoas
8	chr12:29301000-29303400	Active TSS	Fetal Kidney	kidney
9	chr12:29301000-29303400	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:29301000-29303600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:29301000-29304200	Active TSS	Brain Cingulate Gyrus	brain
12	chr12:29301200-29302800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr12:29301200-29303000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:29301200-29303000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:29301200-29303000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:29301200-29303200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:29301200-29303200	Active TSS	Right Atrium	heart
18	chr12:29301200-29303200	Active TSS	K562	blood
19	chr12:29301200-29303400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:29301200-29303400	Active TSS	Colonic Mucosa	Colon
21	chr12:29301200-29303400	Active TSS	Colon Smooth Muscle	Colon
22	chr12:29301200-29303400	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:29301200-29303400	Active TSS	Right Ventricle	heart
24	chr12:29301200-29303600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:29301400-29302600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:29301400-29302600	Active TSS	Fetal Brain Female	brain
27	chr12:29301400-29302600	Active TSS	HSMMtube	muscle
28	chr12:29301400-29302800	Active TSS	Aorta	Aorta
29	chr12:29301400-29302800	Active TSS	Gastric	stomach
30	chr12:29301400-29302800	Active TSS	Lung	lung
31	chr12:29301400-29303000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:29301400-29303000	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:29301400-29303000	Active TSS	Esophagus	oesophagus
34	chr12:29301400-29303000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr12:29301400-29303000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:29301400-29303000	Active TSS	Spleen	Spleen
37	chr12:29301400-29303200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:29301400-29303200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:29301400-29303200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:29301400-29303200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:29301400-29303200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:29301400-29303200	Active TSS	Small Intestine	intestine
43	chr12:29301400-29303200	Active TSS	NHDF-Ad	bronchial
44	chr12:29301400-29303800	Active TSS	Brain Anterior Caudate	brain
45	chr12:29301600-29302600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:29301600-29302600	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:29301600-29302600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
48	chr12:29301600-29302600	Active TSS	Primary T cells from cord blood	blood
49	chr12:29301600-29302600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:29301600-29302600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links