Variant report

Variant	rs578224711
Chromosome Location	chr2:46769336-46769337
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:46768922-46769815	NB4	blood:	n/a	n/a
2	CHD2	chr2:46768878-46769726	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr2:46768970-46769687	A549	lung:	n/a	chr2:46769561-46769570
4	POLR2A	chr2:46768986-46769941	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr2:46769299-46769831	PANC-1	pancreas:	n/a	n/a
6	RFX5	chr2:46768923-46769660	Hela-S3	cervix:	n/a	n/a
7	HA-E2F1	chr2:46769066-46769748	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:46768784-46771617	GM18951	blood:	n/a	n/a
9	POLR2A	chr2:46768945-46769699	U87	brain:	n/a	n/a
10	JUND	chr2:46769310-46769657	HepG2	liver:	n/a	n/a
11	JUND	chr2:46767603-46770001	SK-N-SH	brain:	n/a	chr2:46768518-46768527 chr2:46767833-46767842
12	POU2F2	chr2:46768877-46769996	GM12878	blood:	n/a	chr2:46769256-46769268 chr2:46769435-46769457 chr2:46769816-46769828
13	POLR2A	chr2:46768888-46769639	HepG2	liver:	n/a	n/a
14	RELA	chr2:46768861-46769762	GM18951	blood:	n/a	n/a
15	MTA3	chr2:46768950-46769600	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:46768690-46769675	K562	blood:	n/a	n/a
17	RAD21	chr2:46769327-46769697	SK-N-SH_RA	brain:	n/a	n/a
18	MYC	chr2:46768982-46769533	MCF10A-Er-Src	breast:	n/a	n/a
19	UBTF	chr2:46768935-46769860	K562	blood:	n/a	n/a
20	ZBTB7A	chr2:46768782-46769767	ECC-1	luminal epithelium:	n/a	n/a
21	NRF1	chr2:46768851-46769940	SK-N-SH	brain:	n/a	chr2:46769561-46769570
22	MAX	chr2:46768919-46769799	A549	lung:	n/a	n/a
23	ELF1	chr2:46768715-46769899	GM12878	blood:	n/a	chr2:46769542-46769551
24	CUX1	chr2:46768903-46769543	K562	blood:	n/a	n/a
25	CEBPB	chr2:46769242-46769704	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
26	ARID3A	chr2:46768981-46769720	K562	blood:	n/a	n/a
27	REST	chr2:46768772-46769763	A549	lung:	n/a	chr2:46769603-46769623
28	CEBPB	chr2:46768945-46769728	GM12878	blood:	n/a	chr2:46769466-46769477
29	CTCF	chr2:46768750-46769540	HCT-116	colon:	n/a	n/a
30	YY1	chr2:46768889-46769877	GM12892	blood:	n/a	chr2:46769822-46769831
31	POLR2A	chr2:46769327-46770483	A549	lung:	n/a	n/a
32	ATF2	chr2:46768975-46769679	GM12878	blood:	n/a	n/a
33	NR2F2	chr2:46768824-46769684	K562	blood:	n/a	n/a
34	FOXM1	chr2:46768744-46769724	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:46769207-46769824	PFSK-1	brain:	n/a	n/a
36	EP300	chr2:46766289-46769972	SK-N-SH	brain:	n/a	chr2:46769660-46769673
37	CEBPB	chr2:46769272-46769649	K562	blood:	n/a	chr2:46769466-46769477
38	CEBPB	chr2:46769176-46769690	MCF-7	breast:	n/a	chr2:46769466-46769477
39	POLR2A	chr2:46768709-46769922	Hela-S3	cervix:	n/a	n/a
40	MAX	chr2:46768772-46769706	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:46769311-46769956	HCT-116	colon:	n/a	n/a
42	E2F6	chr2:46768889-46769911	K562	blood:	n/a	n/a
43	CEBPB	chr2:46769074-46769675	A549	lung:	n/a	chr2:46769466-46769477
44	ELF1	chr2:46768838-46769904	GM12878	blood:	n/a	chr2:46769542-46769551
45	MEF2A	chr2:46768971-46769821	GM12878	blood:	n/a	n/a
46	EP300	chr2:46769123-46769640	HepG2	liver:	n/a	n/a
47	CTCF	chr2:46768853-46769589	K562	blood:	n/a	n/a
48	MAX	chr2:46768803-46769904	K562	blood:	n/a	n/a
49	MAX	chr2:46768706-46769883	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr2:46768788-46769382	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46769311-46769361	BE2_C	brain:	n/a
2	chr2:46769311-46769361	ProgFib	skin:	n/a
3	chr2:46769311-46769361	HNPCEpiC	eye:	n/a
4	chr2:46769311-46769361	MCF10A-Er-Src	breast:	n/a
5	chr2:46769311-46769361	AG04450	lung:	fetal
6	chr2:46769311-46769361	GM19239	blood:	n/a
7	chr2:46769311-46769361	HL-60	blood:	n/a
8	chr2:46769311-46769361	NHBE	bronchial:	n/a
9	chr2:46769311-46769361	SKMC	muscle:	n/a
10	chr2:46769311-46769361	SK-N-MC	brain:	n/a
11	chr2:46769311-46769361	MCF-7	breast:	n/a
12	chr2:46769311-46769361	A549	lung:	n/a
13	chr2:46769311-46769361	NB4	blood:	n/a
14	chr2:46769311-46769361	K562	blood:	n/a
15	chr2:46769311-46769361	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:46769311-46769361	U87	brain:	n/a
17	chr2:46769311-46769361	PrEC	prostate:	n/a
18	chr2:46769311-46769361	AG10803	skin:	n/a
19	chr2:46769311-46769361	GM12891	blood:	n/a
20	chr2:46769311-46769361	GM12892	blood:	n/a
21	chr2:46769311-46769361	AG04449	skin:	fetal
22	chr2:46769311-46769361	SAEC	small airway:	n/a
23	chr2:46769311-46769361	Hela-S3	cervix:	n/a
24	chr2:46769311-46769361	RPTEC	kidney:	n/a
25	chr2:46769311-46769361	GM12878	blood:	n/a
26	chr2:46769311-46769361	HepG2	liver:	n/a
27	chr2:46769311-46769361	NH-A	brain:	n/a
28	chr2:46769311-46769361	PANC-1	pancreas:	n/a
29	chr2:46769311-46769361	T-47D	breast:	n/a
30	chr2:46769311-46769361	SK-N-SH	brain:	n/a
31	chr2:46769311-46769361	AG09319	gingival:	n/a
32	chr2:46769311-46769361	Caco-2	colon:	n/a
33	chr2:46769311-46769361	CMK	blood:	n/a
34	chr2:46769311-46769361	SK-N-SH_RA	brain:	n/a
35	chr2:46769311-46769361	HCT-116	colon:	n/a
36	chr2:46769311-46769361	HCF	heart:	n/a
37	chr2:46769311-46769361	HUVEC	blood vessel:	n/a
38	chr2:46769311-46769361	HEK293	kidney:	embryo
39	chr2:46769311-46769361	GM06990	blood:	n/a
40	chr2:46769311-46769361	HCM	heart:	n/a
41	chr2:46769311-46769361	BJ	skin:	n/a
42	chr2:46769311-46769361	Jurkat	blood:	n/a
43	chr2:46769311-46769361	NHDF-neo	bronchial:	n/a
44	chr2:46769311-46769361	PFSK-1	brain:	n/a
45	chr2:46769311-46769361	ECC-1	luminal epithelium:	n/a
46	chr2:46769311-46769361	HEEpiC	esophagus:	n/a
47	chr2:46769311-46769361	NT2-D1	testis:	n/a
48	chr2:46769311-46769361	HRPEpiC	eye:	n/a
49	chr2:46769311-46769361	HCPEpiC	choroid plexus:	n/a
50	chr2:46769311-46769361	LNCaP	prostate:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
2	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
3	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
4	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
5	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
6	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
7	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:
8	chr10:46090060..46090810-chr2:46769073..46769643,2	HCT-116	colon:
9	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
10	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
11	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
12	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
13	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
14	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:

No data

Variant related genes	Relation type
RHOQ	TF binding region
ATP6V1E2	TF binding region
ATP6V1E2	CpG island
RHOQ	CpG island
ENSG00000187600	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000165406	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3422495	chr2:46761899-46769356	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3376216	chr2:46768673-46771221	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3327037	chr2:46768973-46771821	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3411568	chr2:46768998-46771471	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3374486	chr2:46768998-46771796	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:46767800-46769400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr2:46768000-46769400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr2:46768200-46769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:46768200-46769400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr2:46768200-46769600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:46768200-46769600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:46768400-46769400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:46768400-46769400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr2:46768400-46769400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr2:46768400-46769400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr2:46768400-46769600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:46768400-46769600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:46768400-46769600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr2:46768400-46769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:46768400-46769600	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr2:46768400-46771800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:46768600-46769400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:46768600-46769400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:46768600-46769400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:46768600-46769400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:46768600-46769400	Flanking Active TSS	HMEC	breast
22	chr2:46768600-46769400	Flanking Active TSS	HUVEC	blood vessel
23	chr2:46768600-46769400	Flanking Active TSS	NH-A	brain
24	chr2:46768600-46769600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:46768600-46769600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:46768600-46769600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr2:46768600-46769600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:46768600-46769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:46768600-46769600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:46768600-46771200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:46768600-46771400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:46768600-46771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:46768600-46771600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:46768800-46769400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:46768800-46769400	Flanking Active TSS	Placenta	Placenta
36	chr2:46768800-46769400	Flanking Active TSS	NHLF	lung
37	chr2:46768800-46769600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:46768800-46769600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr2:46768800-46771000	Active TSS	Small Intestine	intestine
40	chr2:46768800-46771200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:46768800-46771200	Active TSS	Ovary	ovary
42	chr2:46768800-46771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr2:46768800-46771400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr2:46768800-46771400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:46768800-46771400	Active TSS	Brain Angular Gyrus	brain
46	chr2:46768800-46771400	Active TSS	Colon Smooth Muscle	Colon
47	chr2:46768800-46771400	Active TSS	Fetal Kidney	kidney
48	chr2:46769000-46769400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:46769000-46769400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:46769000-46769600	Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links