Variant report

Variant	rs75316441
Chromosome Location	chr2:111875673-111875674
allele	C/T
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	EP300	chr2:111875430-111876031	A549	lung:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
2	RCOR1	chr2:111874582-111875975	Hela-S3	cervix:	n/a	n/a
3	JUN	chr2:111875562-111875913	H1-hESC	embryonic stem cell:	n/a	n/a
4	HA-E2F1	chr2:111875171-111875933	Hela-S3	cervix:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
5	NFIC	chr2:111874308-111876064	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr2:111875485-111876000	ECC-1	luminal epithelium:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
7	ZBTB7A	chr2:111875236-111875916	ECC-1	luminal epithelium:	n/a	n/a
8	STAT3	chr2:111875664-111875864	MCF10A-Er-Src	breast:	n/a	n/a
9	SMARCB1	chr2:111874466-111876366	Hela-S3	cervix:	n/a	n/a
10	YY1	chr2:111875254-111875913	ECC-1	luminal epithelium:	n/a	n/a
11	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
12	MAX	chr2:111874351-111875744	MCF-7	breast:	n/a	n/a
13	FOS	chr2:111875623-111876030	MCF10A-Er-Src	breast:	n/a	chr2:111875749-111875760
14	CEBPB	chr2:111875100-111876047	Hela-S3	cervix:	n/a	n/a
15	MAX	chr2:111874534-111876269	A549	lung:	n/a	n/a
16	TCF7L2	chr2:111875440-111876017	PANC-1	pancreas:	n/a	n/a
17	MAX	chr2:111875276-111876962	NB4	blood:	n/a	n/a
18	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr2:111874687-111876181	A549	lung:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
20	SMARCC1	chr2:111874583-111876622	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr2:111875596-111875684	GM12878	blood:	n/a	n/a
22	TCF7L2	chr2:111874640-111875995	HCT-116	colon:	n/a	n/a
23	MYC	chr2:111874633-111875997	MCF10A-Er-Src	breast:	n/a	n/a
24	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr2:111875403-111875705	A549	lung:	n/a	n/a
26	E2F1	chr2:111875174-111875975	Hela-S3	cervix:	n/a	chr2:111875853-111875865 chr2:111875857-111875864 chr2:111875857-111875864 chr2:111875857-111875864
27	MAX	chr2:111874469-111876165	HCT-116	colon:	n/a	n/a
28	JUND	chr2:111875556-111875968	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr2:111875612-111875931	MCF10A-Er-Src	breast:	n/a	n/a
30	RFX5	chr2:111875342-111876019	Hela-S3	cervix:	n/a	n/a
31	FOXA2	chr2:111875653-111876063	A549	lung:	n/a	n/a
32	TCF7L2	chr2:111875468-111875982	Hela-S3	cervix:	n/a	n/a
33	ZBTB7A	chr2:111874537-111875868	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr2:111875455-111875756	Hela-S3	cervix:	n/a	n/a
35	GATA3	chr2:111875339-111876006	A549	lung:	n/a	n/a
36	CTCF	chr2:111875661-111875700	NHEK	skin:	n/a	n/a
37	SP1	chr2:111875320-111875983	A549	lung:	n/a	n/a
38	FOSL2	chr2:111875584-111875939	A549	lung:	n/a	n/a
39	STAT3	chr2:111875556-111875965	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr2:111874336-111876061	HCT-116	colon:	n/a	chr2:111874765-111874779 chr2:111875131-111875150 chr2:111874764-111874783 chr2:111874715-111874722
41	JUND	chr2:111875487-111875877	A549	lung:	n/a	n/a
42	EP300	chr2:111875322-111876059	ECC-1	luminal epithelium:	n/a	chr2:111875808-111875818 chr2:111875943-111875952
43	STAT3	chr2:111875631-111876035	MCF10A-Er-Src	breast:	n/a	n/a
44	SMC3	chr2:111874523-111876058	Hela-S3	cervix:	n/a	chr2:111874765-111874779
45	FOSL2	chr2:111875311-111876074	A549	lung:	n/a	n/a
46	FOS	chr2:111875551-111876048	HUVEC	blood vessel:	n/a	chr2:111875749-111875760
47	FOS	chr2:111875596-111875960	MCF10A-Er-Src	breast:	n/a	chr2:111875749-111875760
48	POLR2A	chr2:111874566-111875812	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr2:111875474-111875880	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr2:111874652-111875986	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000204581	TF binding region
BCL2L11	TF binding region

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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 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	chr2:111874400-111875800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:111874400-111875800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:111874400-111876000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:111874400-111876000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
5	chr2:111874400-111876200	Active TSS	Brain Anterior Caudate	brain
6	chr2:111874400-111876600	Bivalent Enhancer	Fetal Heart	heart
7	chr2:111874400-111876800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:111874400-111877800	Enhancers	Spleen	Spleen
9	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:111874600-111875800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr2:111874600-111876000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr2:111874600-111876000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:111874600-111876000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:111874600-111876000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:111874600-111876200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr2:111874600-111876800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:111874800-111875800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:111874800-111875800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:111874800-111875800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:111874800-111875800	Flanking Active TSS	Liver	Liver
28	chr2:111874800-111875800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
29	chr2:111874800-111875800	Flanking Active TSS	Esophagus	oesophagus
30	chr2:111874800-111875800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr2:111874800-111876000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:111874800-111876000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr2:111874800-111876200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:111874800-111876200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:111874800-111876400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
42	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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