Variant report

Variant	rs72720360
Chromosome Location	chr8:131020798-131020799
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	TBL1XR1	chr8:131020687-131021350	GM12878	blood:	n/a	n/a
2	EP300	chr8:131020739-131021334	GM12878	blood:	n/a	chr8:131021095-131021109
3	RUNX3	chr8:131020605-131021509	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:131020668-131021346	GM12878	blood:	n/a	chr8:131021095-131021104
5	ATF2	chr8:131020554-131021539	GM12878	blood:	n/a	n/a
6	IRF4	chr8:131020596-131021495	GM12878	blood:	n/a	n/a
7	BCLAF1	chr8:131020790-131021433	GM12878	blood:	n/a	chr8:131021095-131021104
8	NFATC1	chr8:131020681-131021487	GM12878	blood:	n/a	n/a
9	NFIC	chr8:131020583-131021556	GM12878	blood:	n/a	n/a
10	RAD21	chr8:131020770-131021347	GM12878	blood:	n/a	n/a
11	WRNIP1	chr8:131020752-131021394	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:131020687-131021370	GM12891	blood:	n/a	n/a
13	EP300	chr8:131020701-131021312	GM12878	blood:	n/a	chr8:131021095-131021109
14	POLR2A	chr8:131020777-131021526	HL-60	blood:	n/a	n/a
15	RCOR1	chr8:131020605-131021350	GM12878	blood:	n/a	n/a
16	PML	chr8:131020772-131021395	GM12878	blood:	n/a	n/a
17	PAX5	chr8:131020555-131021533	GM12878	blood:	n/a	chr8:131021095-131021104
18	CEBPB	chr8:131020498-131021603	GM12878	blood:	n/a	chr8:131021340-131021351 chr8:131021085-131021096
19	BHLHE40	chr8:131020660-131021274	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:131020590-131021486	GM12892	blood:	n/a	n/a
21	BCLAF1	chr8:131020592-131021475	GM12878	blood:	n/a	chr8:131021095-131021104
22	MEF2C	chr8:131020798-131021414	GM12878	blood:	n/a	n/a
23	NFIC	chr8:131020577-131021460	GM12878	blood:	n/a	n/a
24	MEF2A	chr8:131020662-131021500	GM12878	blood:	n/a	n/a
25	PAX5	chr8:131020720-131021435	GM12878	blood:	n/a	chr8:131021095-131021104
26	BATF	chr8:131020617-131021490	GM12878	blood:	n/a	chr8:131021092-131021100
27	FOXM1	chr8:131020601-131021480	GM12878	blood:	n/a	n/a
28	TCF3	chr8:131020719-131021276	GM12878	blood:	n/a	n/a
29	STAT5A	chr8:131020563-131021497	GM12878	blood:	n/a	chr8:131021473-131021484 chr8:131021093-131021104
30	ATF2	chr8:131020655-131021478	GM12878	blood:	n/a	n/a
31	PAX5	chr8:131020687-131021450	GM12891	blood:	n/a	chr8:131021095-131021104
32	POU2F2	chr8:131020659-131021420	GM12891	blood:	n/a	n/a
33	RUNX3	chr8:131020574-131021498	GM12878	blood:	n/a	n/a
34	RELA	chr8:131020645-131021385	GM19193	blood:	n/a	n/a
35	RELA	chr8:131020620-131021512	GM19099	blood:	n/a	n/a
36	YY1	chr8:131020728-131021332	K562	blood:	n/a	n/a
37	IRF4	chr8:131020649-131021443	GM12878	blood:	n/a	n/a
38	MTA3	chr8:131020418-131021528	GM12878	blood:	n/a	n/a
39	MTA3	chr8:131020632-131021460	GM12878	blood:	n/a	n/a
40	YY1	chr8:131020579-131021466	GM12892	blood:	n/a	n/a
41	EBF1	chr8:131020683-131021277	GM12878	blood:	n/a	n/a
42	PML	chr8:131020639-131021589	GM12878	blood:	n/a	n/a
43	YY1	chr8:131020677-131021447	GM12878	blood:	n/a	n/a
44	BCL3	chr8:131020745-131021350	GM12878	blood:	n/a	chr8:131021095-131021104
45	STAT5A	chr8:131020768-131021543	GM12878	blood:	n/a	chr8:131021473-131021484 chr8:131021093-131021104
46	BATF	chr8:131020696-131021357	GM12878	blood:	n/a	chr8:131021092-131021100
47	POU2F2	chr8:131020688-131021439	GM12878	blood:	n/a	n/a
48	YY1	chr8:131020675-131021351	GM12891	blood:	n/a	n/a
49	RELA	chr8:131020710-131021406	GM15510	blood:	n/a	n/a
50	CEBPB	chr8:131020683-131021316	GM12878	blood:	n/a	chr8:131021085-131021096

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131018416..131020834-chr8:131027208..131028989,2	MCF-7	breast:
2	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:

Variant related genes	Relation type
MIR5194	TF binding region
RNU7-181P	TF binding region
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1349847	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520393	1.00[ASN][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs58989689	1.00[AFR][1000 genomes]
rs66523355	1.00[ASN][1000 genomes]
rs7016402	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	1.00[ASN][1000 genomes]
rs72720337	1.00[ASN][1000 genomes]
rs72720341	1.00[AFR][1000 genomes]
rs72720345	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720346	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720350	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720351	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720353	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720361	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720362	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]
rs72722353	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131009000-131021800	Weak transcription	Colonic Mucosa	Colon
2	chr8:131009400-131026200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:131010000-131026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:131010000-131027000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:131010000-131027000	Weak transcription	Small Intestine	intestine
6	chr8:131010200-131022600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
8	chr8:131011600-131026800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131011800-131020800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:131012200-131026000	Weak transcription	Fetal Brain Female	brain
11	chr8:131012400-131021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:131012400-131024600	Weak transcription	Left Ventricle	heart
13	chr8:131012400-131027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:131012400-131027000	Weak transcription	Esophagus	oesophagus
15	chr8:131012600-131020800	Weak transcription	Right Atrium	heart
16	chr8:131012600-131020800	Weak transcription	HSMM	muscle
17	chr8:131012600-131021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:131012600-131021000	Weak transcription	HSMMtube	muscle
19	chr8:131012600-131021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:131012600-131022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:131012600-131022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:131012600-131024800	Weak transcription	Fetal Heart	heart
23	chr8:131012600-131027200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:131012600-131027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:131012600-131027800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:131012800-131020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:131012800-131021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:131012800-131022000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:131012800-131026800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:131012800-131026800	Weak transcription	NH-A	brain
31	chr8:131013400-131026000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:131013600-131021000	Weak transcription	Lung	lung
33	chr8:131013800-131020800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:131015000-131020800	Weak transcription	Adipose Nuclei	Adipose
35	chr8:131015000-131023400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:131016000-131020800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:131016000-131021000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:131016000-131021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:131016000-131021200	Weak transcription	K562	blood
40	chr8:131016000-131027400	Weak transcription	Gastric	stomach
41	chr8:131016200-131020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:131016200-131021800	Weak transcription	Fetal Stomach	stomach
43	chr8:131016400-131021000	Weak transcription	Dnd41	blood
44	chr8:131017400-131021600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:131017600-131021200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:131017600-131022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:131017800-131021000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:131017800-131021800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:131018000-131022600	Weak transcription	Right Ventricle	heart
50	chr8:131018000-131027000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links