Variant report

Variant	rs7712011
Chromosome Location	chr5:119800834-119800835
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	CTBP2	chr5:119799721-119801638	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:119800534-119801587	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr5:119800703-119801565	H1-hESC	embryonic stem cell:	n/a	chr5:119801455-119801467
4	MAX	chr5:119800398-119801271	SK-N-SH	brain:	n/a	n/a
5	TBP	chr5:119800574-119801618	H1-hESC	embryonic stem cell:	n/a	n/a
6	UBTF	chr5:119800503-119801734	K562	blood:	n/a	n/a
7	POLR2A	chr5:119800559-119800962	K562	blood:	n/a	n/a
8	POLR2A	chr5:119799555-119801705	Gliobla	brain:	n/a	n/a
9	ZMIZ1	chr5:119800764-119800887	K562	blood:	n/a	n/a
10	NRF1	chr5:119799492-119801872	SK-N-SH	brain:	n/a	chr5:119799886-119799895 chr5:119799939-119799950 chr5:119799939-119799953
11	RAD21	chr5:119800504-119800975	SK-N-SH_RA	brain:	n/a	n/a
12	GATA2	chr5:119799630-119801060	SH-SY5Y	brain:	n/a	n/a
13	ZC3H11A	chr5:119800821-119800845	K562	blood:	n/a	n/a
14	TBP	chr5:119800525-119801075	K562	blood:	n/a	n/a
15	MXI1	chr5:119798748-119802822	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr5:119800734-119800926	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr5:119800509-119801012	SK-N-SH	brain:	n/a	n/a
18	MYC	chr5:119800436-119802257	K562	blood:	n/a	n/a
19	BHLHE40	chr5:119800557-119800862	K562	blood:	n/a	n/a
20	RCOR1	chr5:119799624-119801069	K562	blood:	n/a	n/a
21	RAD21	chr5:119799569-119801920	IMR90	lung:	n/a	chr5:119801455-119801467
22	ZNF143	chr5:119800684-119801057	H1-hESC	embryonic stem cell:	n/a	chr5:119800716-119800735
23	MAX	chr5:119800352-119800967	SK-N-SH	brain:	n/a	n/a
24	RAD21	chr5:119800538-119801521	H1-hESC	embryonic stem cell:	n/a	chr5:119801455-119801467
25	MXI1	chr5:119799479-119801250	IMR90	lung:	n/a	n/a
26	SIN3AK20	chr5:119800372-119801159	SK-N-SH	brain:	n/a	n/a
27	ZNF263	chr5:119799633-119801008	HEK293-T-REx	kidney:	n/a	chr5:119799931-119799940
28	RAD21	chr5:119800440-119801763	SK-N-SH_RA	brain:	n/a	chr5:119801455-119801467
29	E2F6	chr5:119800832-119801433	H1-hESC	embryonic stem cell:	n/a	chr5:119800998-119801010
30	NFIC	chr5:119800361-119801731	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:119799521-119801874	ProgFib	skin:	n/a	n/a
32	MAZ	chr5:119799695-119801846	K562	blood:	n/a	chr5:119799754-119799764 chr5:119799751-119799761
33	POLR2A	chr5:119800547-119801004	K562	blood:	n/a	n/a
34	MAX	chr5:119800511-119801579	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3A	chr5:119799628-119801613	H1-hESC	embryonic stem cell:	n/a	chr5:119799741-119799755 chr5:119800051-119800064 chr5:119800107-119800116
36	MAZ	chr5:119799537-119801717	IMR90	lung:	n/a	chr5:119799754-119799764 chr5:119799751-119799761
37	E2F6	chr5:119800543-119801462	H1-hESC	embryonic stem cell:	n/a	chr5:119800998-119801010
38	MAX	chr5:119800442-119800856	K562	blood:	n/a	n/a

Variant related genes	Relation type
PRR16	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1503926	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17146596	1.00[EUR][1000 genomes]
rs17146610	1.00[EUR][1000 genomes]
rs17146612	1.00[EUR][1000 genomes]
rs17146625	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1835869	1.00[EUR][1000 genomes]
rs60019001	1.00[EUR][1000 genomes]
rs60263195	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6595230	1.00[EUR][1000 genomes]
rs6595231	1.00[EUR][1000 genomes]
rs6887795	1.00[EUR][1000 genomes]
rs6891906	1.00[EUR][1000 genomes]
rs73783446	0.80[AFR][1000 genomes]
rs73783447	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73784933	1.00[EUR][1000 genomes]
rs73784937	0.93[EUR][1000 genomes]
rs73784938	1.00[EUR][1000 genomes]
rs73785926	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73785931	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73785936	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73785937	1.00[EUR][1000 genomes]
rs73785938	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119798600-119801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:119798800-119801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:119798800-119801600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:119798800-119802800	Active TSS	Aorta	Aorta
5	chr5:119799000-119802200	Active TSS	Right Atrium	heart
6	chr5:119799000-119803600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119799200-119801800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr5:119799200-119803000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:119799400-119801000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:119799400-119801400	Active TSS	Brain Substantia Nigra	brain
11	chr5:119799400-119801600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:119799400-119801800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:119799400-119802000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:119799400-119802000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:119799400-119802000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:119799400-119802200	Active TSS	Right Ventricle	heart
17	chr5:119799400-119802400	Active TSS	Brain Angular Gyrus	brain
18	chr5:119799400-119802600	Active TSS	HSMMtube	muscle
19	chr5:119799400-119802600	Active TSS	NHDF-Ad	bronchial
20	chr5:119799400-119803000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:119799600-119801000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:119799600-119801000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr5:119799600-119801200	Flanking Active TSS	Pancreas	Pancrea
24	chr5:119799600-119801200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr5:119799600-119801200	Bivalent/Poised TSS	A549	lung
26	chr5:119799600-119801600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:119799600-119801600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr5:119799600-119801600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr5:119799600-119801800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr5:119799600-119801800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:119799600-119801800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:119799600-119801800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:119799600-119801800	Active TSS	Psoas Muscle	Psoas
34	chr5:119799600-119802000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:119799600-119802000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:119799600-119802200	Bivalent/Poised TSS	Fetal Lung	lung
37	chr5:119799600-119802200	Active TSS	Left Ventricle	heart
38	chr5:119799600-119802200	Active TSS	Osteobl	bone
39	chr5:119799600-119802600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:119799600-119803000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:119799800-119801000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr5:119799800-119801000	Flanking Active TSS	Lung	lung
43	chr5:119799800-119801400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:119799800-119801600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:119799800-119801600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:119799800-119801600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:119799800-119801600	Active TSS	Fetal Heart	heart
48	chr5:119799800-119801600	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr5:119799800-119801600	Active TSS	NH-A	brain
50	chr5:119799800-119801800	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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