Variant report

Variant	rs72938113
Chromosome Location	chr3:49844001-49844002
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	MAX	chr3:49843791-49844053	K562	blood:	n/a	n/a
2	ELF1	chr3:49843614-49844075	K562	blood:	n/a	n/a
3	RUNX3	chr3:49843452-49844095	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:49842536-49844314	HL-60	blood:	n/a	n/a
5	POLR2A	chr3:49843771-49844309	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:49843719-49844190	GM12891	blood:	n/a	n/a
7	MAX	chr3:49843740-49844016	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:49843696-49844099	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:49843733-49844120	K562	blood:	n/a	n/a
10	RCOR1	chr3:49843395-49844057	K562	blood:	n/a	n/a
11	POLR2A	chr3:49843152-49844326	K562	blood:	n/a	n/a
12	POLR2A	chr3:49843740-49844155	HUVEC	blood vessel:	n/a	n/a
13	GABPA	chr3:49843704-49844043	K562	blood:	n/a	n/a
14	MAX	chr3:49843647-49844049	K562	blood:	n/a	n/a
15	GATA2	chr3:49843725-49844124	HUVEC	blood vessel:	n/a	chr3:49843786-49843796
16	PML	chr3:49842355-49844573	GM12878	blood:	n/a	n/a
17	NR2F2	chr3:49843726-49844158	K562	blood:	n/a	n/a
18	CBX3	chr3:49843724-49844022	K562	blood:	n/a	n/a
19	HDAC2	chr3:49843759-49844089	K562	blood:	n/a	n/a
20	WRNIP1	chr3:49843963-49844084	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:49843745-49844311	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr3:49843717-49844380	K562	blood:	n/a	n/a
23	POLR2A	chr3:49840564-49844844	GM12892	blood:	n/a	n/a
24	ETS1	chr3:49843712-49844070	GM12878	blood:	n/a	chr3:49843945-49843958 chr3:49843955-49843970 chr3:49843724-49843735
25	EP300	chr3:49843503-49844108	GM12878	blood:	n/a	n/a
26	EP300	chr3:49843707-49844131	K562	blood:	n/a	n/a
27	POLR2A	chr3:49839914-49845521	HUVEC	blood vessel:	n/a	n/a
28	TEAD4	chr3:49843755-49844066	K562	blood:	n/a	n/a
29	SP1	chr3:49843695-49844036	GM12878	blood:	n/a	chr3:49843941-49843955 chr3:49843752-49843766 chr3:49843759-49843768 chr3:49843757-49843769 chr3:49843725-49843739
30	TEAD4	chr3:49843647-49844160	K562	blood:	n/a	n/a
31	POLR2A	chr3:49843597-49844084	HUVEC	blood vessel:	n/a	n/a
32	ATF2	chr3:49843680-49844067	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:49843749-49844340	GM18505	blood:	n/a	n/a
34	POLR2A	chr3:49840600-49844841	GM12878	blood:	n/a	n/a
35	ZMIZ1	chr3:49843764-49844082	K562	blood:	n/a	n/a
36	TBP	chr3:49843803-49844003	K562	blood:	n/a	n/a
37	ELF1	chr3:49843636-49844143	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:49843714-49844123	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:49843815-49844026	K562	blood:	n/a	n/a
40	MAZ	chr3:49843559-49844078	IMR90	lung:	n/a	n/a
41	POLR2A	chr3:49840052-49844784	HL-60	blood:	n/a	n/a
42	STAT5A	chr3:49843747-49844226	GM12878	blood:	n/a	chr3:49843958-49843970 chr3:49844095-49844107
43	ZBTB7A	chr3:49843599-49844205	K562	blood:	n/a	n/a
44	CEBPD	chr3:49843769-49844121	K562	blood:	n/a	n/a
45	RCOR1	chr3:49843720-49844112	GM12878	blood:	n/a	n/a
46	MAZ	chr3:49843358-49844119	K562	blood:	n/a	n/a
47	POLR2A	chr3:49843568-49844073	K562	blood:	n/a	n/a
48	YY1	chr3:49843713-49844014	K562	blood:	n/a	n/a
49	POLR2A	chr3:49842242-49845414	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr3:49842141-49845240	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:100315142..100315868-chr3:49843571..49844336,2	NB4	blood:
2	chr3:49842643..49844250-chr3:49847224..49849823,3	MCF-7	breast:
3	chr3:49842273..49844588-chr3:49866434..49868538,2	K562	blood:

Variant related genes	Relation type
MIR5193	TF binding region
UBA7	TF binding region
ENSG00000162688	Chromatin interaction
ENSG00000182179	Chromatin interaction
ENSG00000183763	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2234384	0.86[AFR][1000 genomes]
rs72938108	0.81[AFR][1000 genomes]
rs72938138	0.83[AFR][1000 genomes]

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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr3:49841000-49845000	Enhancers	Liver	Liver
2	chr3:49841400-49844200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
3	chr3:49841400-49845200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:49841400-49845800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr3:49841400-49845800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:49841400-49846400	Weak transcription	Ovary	ovary
7	chr3:49841400-49847000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:49841600-49844400	Enhancers	NH-A	brain
9	chr3:49841600-49845000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:49841600-49845400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:49841600-49845600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:49841600-49845800	Enhancers	Dnd41	blood
13	chr3:49841600-49846000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:49841600-49846200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:49841600-49850400	Weak transcription	Small Intestine	intestine
16	chr3:49841800-49844200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:49841800-49844400	Weak transcription	Gastric	stomach
18	chr3:49841800-49844400	Enhancers	Spleen	Spleen
19	chr3:49841800-49844600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:49841800-49844800	Enhancers	Stomach Mucosa	stomach
21	chr3:49841800-49845400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:49841800-49845400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:49841800-49845600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:49841800-49845600	Enhancers	Left Ventricle	heart
25	chr3:49841800-49845800	Enhancers	Right Atrium	heart
26	chr3:49842000-49845800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:49842000-49845800	Enhancers	Right Ventricle	heart
28	chr3:49842000-49850600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:49842200-49844800	Enhancers	Brain Anterior Caudate	brain
30	chr3:49842200-49845600	Enhancers	Lung	lung
31	chr3:49842200-49846600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:49842400-49844800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:49842600-49844200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr3:49842600-49844200	Weak transcription	Brain Substantia Nigra	brain
35	chr3:49842600-49845200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr3:49842600-49845400	Enhancers	NHLF	lung
37	chr3:49842600-49845600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:49842600-49846000	Enhancers	NHEK	skin
39	chr3:49842800-49844200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:49842800-49844400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr3:49842800-49844800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:49842800-49845200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:49842800-49845200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:49842800-49845400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:49842800-49846000	Enhancers	Esophagus	oesophagus
46	chr3:49843000-49844200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:49843000-49844400	Flanking Active TSS	K562	blood
48	chr3:49843000-49844600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:49843000-49845200	Weak transcription	Pancreas	Pancrea
50	chr3:49843000-49845200	Enhancers	Thymus	Thymus

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