Variant report

Variant	rs72948325
Chromosome Location	chr2:111878927-111878928
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	ZNF143	chr2:111878704-111879059	H1-hESC	embryonic stem cell:	n/a	chr2:111878773-111878791
2	POLR2A	chr2:111878924-111879182	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr2:111877408-111879340	K562	blood:	n/a	chr2:111878414-111878423 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111878285-111878294 chr2:111878171-111878181
4	PAX5	chr2:111878278-111879229	GM12878	blood:	n/a	chr2:111878388-111878397 chr2:111879173-111879182 chr2:111879020-111879029
5	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
6	MAX	chr2:111877317-111879304	H1-hESC	embryonic stem cell:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
7	E2F6	chr2:111876311-111880584	H1-hESC	embryonic stem cell:	n/a	chr2:111876443-111876455 chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877347-111877357 chr2:111876622-111876632 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
8	POLR2A	chr2:111877782-111879129	MCF-7	breast:	n/a	n/a
9	EP300	chr2:111877870-111878996	SK-N-SH	brain:	n/a	chr2:111878469-111878485 chr2:111878110-111878126 chr2:111878390-111878406 chr2:111878168-111878177 chr2:111878159-111878175 chr2:111878171-111878180
10	MAX	chr2:111877825-111879196	SK-N-SH	brain:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693
11	TCF12	chr2:111877680-111880212	A549	lung:	n/a	n/a
12	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
13	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
14	RCOR1	chr2:111877851-111878973	HepG2	liver:	n/a	n/a
15	MTA3	chr2:111878588-111879518	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:111877835-111878982	PFSK-1	brain:	n/a	n/a
17	PAX5	chr2:111878336-111879403	GM12878	blood:	n/a	chr2:111878388-111878397 chr2:111879173-111879182 chr2:111879020-111879029
18	TCF12	chr2:111877517-111879634	ECC-1	luminal epithelium:	n/a	n/a
19	MAFK	chr2:111878762-111879099	K562	blood:	n/a	n/a
20	POLR2A	chr2:111877971-111878943	HCT-116	colon:	n/a	n/a
21	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
22	MYC	chr2:111878762-111878959	Hela-S3	cervix:	n/a	n/a
23	HCFC1	chr2:111877979-111880854	K562	blood:	n/a	n/a
24	POLR2A	chr2:111877942-111881067	IMR90	lung:	n/a	n/a
25	POLR2A	chr2:111877963-111879180	K562	blood:	n/a	n/a
26	E2F6	chr2:111878578-111880256	A549	lung:	n/a	chr2:111880095-111880104 chr2:111878679-111878691 chr2:111880053-111880060
27	MAX	chr2:111877542-111881163	HepG2	liver:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
28	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
29	POLR2A	chr2:111878117-111879345	H1-neurons	neurons:	n/a	n/a
30	TBL1XR1	chr2:111878781-111879135	GM12878	blood:	n/a	n/a
31	GATA3	chr2:111877704-111879021	A549	lung:	n/a	n/a
32	RELA	chr2:111878176-111879100	GM12892	blood:	n/a	n/a
33	MAX	chr2:111877713-111879368	A549	lung:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
34	STAT5A	chr2:111878822-111879043	GM12878	blood:	n/a	n/a
35	RUNX3	chr2:111878325-111879030	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr2:111877957-111879169	HepG2	liver:	n/a	n/a
37	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:111878112-111879219	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:111877652-111881216	H1-hESC	embryonic stem cell:	n/a	n/a
40	TEAD4	chr2:111878850-111879341	K562	blood:	n/a	n/a
41	MYC	chr2:111877906-111880742	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
42	ZKSCAN1	chr2:111878027-111879455	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:111878840-111878990	HBMEC	blood vessel:	n/a	chr2:111878977-111878985 chr2:111878899-111878912
44	E2F6	chr2:111877723-111880882	Hela-S3	cervix:	n/a	chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
45	POLR2A	chr2:111877744-111880423	NB4	blood:	n/a	n/a
46	MYC	chr2:111877505-111879474	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
47	TBP	chr2:111877793-111879385	K562	blood:	n/a	n/a
48	MYC	chr2:111877859-111879233	Hela-S3	cervix:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
49	MAZ	chr2:111877230-111879730	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
50	EP300	chr2:111878004-111879296	HepG2	liver:	n/a	chr2:111878469-111878485 chr2:111878110-111878126 chr2:111879145-111879154 chr2:111878390-111878406 chr2:111879080-111879089 chr2:111878168-111878177 chr2:111878159-111878175 chr2:111878171-111878180

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
3	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:
4	chr17:39845098..39845687-chr2:111878260..111879017,2	Hela-S3	cervix:
5	chr2:111878400..111878946-chr7:25164305..25164896,2	HCT-116	colon:
6	chr19:58897967..58899180-chr2:111878320..111878941,3	HCT-116	colon:
7	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
8	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000083845	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000169679	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000204581	Chromatin interaction
ENSG00000172965	Chromatin interaction
ENSG00000087494	Chromatin interaction
ENSG00000266640	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13405347	0.90[AFR][1000 genomes]
rs13416333	1.00[AFR][1000 genomes]
rs72948313	1.00[AFR][1000 genomes]

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	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
5	esv3338590	chr2:111876081-111880479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3373707	chr2:111877306-111879854	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
7	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
10	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:111877200-111879200	Active TSS	Rectal Smooth Muscle	rectum
12	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:111877400-111879200	Transcr. at gene 5' and 3'	Right Atrium	heart
14	chr2:111877600-111879200	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:111877600-111879200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:111877600-111879400	Active TSS	HSMM	muscle
17	chr2:111877600-111879800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
19	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:111877800-111879000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:111877800-111879200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:111877800-111879200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:111877800-111879200	Active TSS	Brain Angular Gyrus	brain
26	chr2:111877800-111879200	Active TSS	Placenta Amnion	Placenta Amnion
27	chr2:111877800-111879200	Active TSS	K562	blood
28	chr2:111877800-111879400	Active TSS	Fetal Heart	heart
29	chr2:111877800-111880000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:111877800-111881000	Active TSS	A549	lung
33	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
34	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:111877800-111881400	Active TSS	Ovary	ovary
36	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
37	chr2:111878000-111879000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
38	chr2:111878000-111879000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr2:111878000-111879000	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr2:111878000-111879200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:111878000-111879200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:111878000-111879200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:111878000-111879400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr2:111878000-111879400	Active TSS	Primary B cells from peripheral blood	blood
45	chr2:111878000-111879400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr2:111878000-111879400	Active TSS	Fetal Intestine Small	intestine
47	chr2:111878000-111879400	Active TSS	NHEK	skin
48	chr2:111878000-111879600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:111878000-111879600	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr2:111878000-111879600	Active TSS	Lung	lung

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