Variant report

Variant	rs72986535
Chromosome Location	chr1:113248218-113248219
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	JUND	chr1:113247774-113248301	HepG2	liver:	n/a	chr1:113248123-113248131 chr1:113248122-113248133 chr1:113248121-113248132
2	RUNX3	chr1:113247291-113248395	GM12878	blood:	n/a	n/a
3	MAFK	chr1:113247635-113248258	Hela-S3	cervix:	n/a	chr1:113248041-113248056 chr1:113247686-113247701
4	IKZF1	chr1:113247412-113248411	GM12878	blood:	n/a	n/a
5	TCF12	chr1:113247298-113248582	A549	lung:	n/a	n/a
6	E2F6	chr1:113247221-113248313	K562	blood:	n/a	n/a
7	STAT3	chr1:113248097-113248280	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:113246913-113248302	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:113240102-113248907	U87	brain:	n/a	n/a
10	RCOR1	chr1:113247440-113248252	GM12878	blood:	n/a	n/a
11	SP1	chr1:113247374-113248322	A549	lung:	n/a	chr1:113247800-113247811 chr1:113247629-113247638 chr1:113247797-113247811 chr1:113247800-113247812 chr1:113247801-113247810 chr1:113247628-113247638 chr1:113247800-113247812 chr1:113247628-113247642
12	IRF1	chr1:113247415-113248398	K562	blood:	n/a	chr1:113247688-113247697
13	ATF2	chr1:113247446-113248342	GM12878	blood:	n/a	n/a
14	TCF7L2	chr1:113247812-113248310	MCF-7	breast:	n/a	chr1:113248141-113248155
15	TEAD4	chr1:113247132-113249018	K562	blood:	n/a	n/a
16	POLR2A	chr1:113248158-113248249	A549	lung:	n/a	n/a
17	POLR2A	chr1:113247417-113248218	SK-N-MC	brain:	n/a	n/a
18	MAX	chr1:113247317-113248260	A549	lung:	n/a	chr1:113247387-113247397 chr1:113248122-113248131 chr1:113247619-113247629
19	CUX1	chr1:113247529-113248226	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:113244126-113248331	GM12878	blood:	n/a	n/a
21	ELF1	chr1:113247481-113248249	GM12878	blood:	n/a	chr1:113247691-113247702 chr1:113247689-113247702
22	PML	chr1:113247385-113248408	K562	blood:	n/a	n/a
23	POLR2A	chr1:113247250-113248266	GM12878	blood:	n/a	n/a
24	FOXA1	chr1:113247852-113248412	HepG2	liver:	n/a	n/a
25	HDAC2	chr1:113247542-113248412	MCF-7	breast:	n/a	n/a
26	HDAC2	chr1:113247436-113248385	MCF-7	breast:	n/a	n/a
27	SIX5	chr1:113247629-113248241	A549	lung:	n/a	n/a
28	POLR2A	chr1:113247404-113248219	GM12892	blood:	n/a	n/a
29	TCF7L2	chr1:113247501-113248337	Hela-S3	cervix:	n/a	chr1:113248141-113248155
30	MAZ	chr1:113246923-113250658	IMR90	lung:	n/a	chr1:113247387-113247397 chr1:113248122-113248131
31	POLR2A	chr1:113247468-113248362	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:113247485-113248228	PANC-1	pancreas:	n/a	n/a
33	JUND	chr1:113247392-113248507	K562	blood:	n/a	chr1:113248123-113248131 chr1:113247586-113247594 chr1:113248122-113248133 chr1:113247484-113247494 chr1:113248121-113248132 chr1:113247584-113247595 chr1:113248449-113248456
34	MXI1	chr1:113247560-113248313	GM12878	blood:	n/a	n/a
35	GTF2F1	chr1:113247601-113248292	Hela-S3	cervix:	n/a	n/a
36	GATA3	chr1:113247458-113248490	MCF-7	breast:	n/a	chr1:113247689-113247699 chr1:113247602-113247609
37	STAT3	chr1:113247454-113248259	MCF10A-Er-Src	breast:	n/a	chr1:113247539-113247547
38	ELF1	chr1:113247216-113248386	MCF-7	breast:	n/a	chr1:113247691-113247702 chr1:113247689-113247702
39	HEY1	chr1:113247621-113248341	HepG2	liver:	n/a	n/a
40	EGR1	chr1:113247343-113248446	K562	blood:	n/a	chr1:113247690-113247699 chr1:113247802-113247815
41	FOSL2	chr1:113247355-113248358	HepG2	liver:	n/a	chr1:113248123-113248131 chr1:113247586-113247594 chr1:113248122-113248133 chr1:113247484-113247494 chr1:113248120-113248131 chr1:113247584-113247595
42	SP1	chr1:113247409-113248458	A549	lung:	n/a	chr1:113247800-113247811 chr1:113247629-113247638 chr1:113247797-113247811 chr1:113247800-113247812 chr1:113247801-113247810 chr1:113247628-113247638 chr1:113247800-113247812 chr1:113247628-113247642
43	POLR2A	chr1:113246289-113248630	K562	blood:	n/a	n/a
44	HEY1	chr1:113247440-113248375	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:113247193-113249029	K562	blood:	n/a	n/a
46	RCOR1	chr1:113247265-113248236	HepG2	liver:	n/a	n/a
47	CTCF	chr1:113248160-113248310	HFF-Myc	foreskin:	n/a	n/a
48	SIN3A	chr1:113247534-113248272	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:113247150-113248789	HUVEC	blood vessel:	n/a	n/a
50	CBX3	chr1:113247307-113248351	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
2	chr1:113160723..113165170-chr1:113245654..113250392,12	K562	blood:
3	chr1:113246571..113250786-chr1:113261233..113263716,3	K562	blood:
4	chr1:113247917..113248434-chr15:43029023..43029532,2	Hela-S3	cervix:
5	chr1:112938761..112941761-chr1:113247568..113249753,3	MCF-7	breast:
6	chr1:113247889..113248665-chr2:21021883..21022878,2	Hela-S3	cervix:
7	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
8	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
9	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
10	chr1:113247278..113248218-chr16:28834319..28834859,2	Hela-S3	cervix:
11	chr1:113247815..113248374-chr6:86384160..86385018,2	Hela-S3	cervix:
12	chr1:113193696..113195497-chr1:113246337..113249077,2	K562	blood:
13	chr1:113247785..113248417-chr16:2205335..2205916,2	Hela-S3	cervix:
14	chr1:113247832..113248380-chr16:30645966..30646947,2	Hela-S3	cervix:
15	chr1:113167976..113172227-chr1:113246480..113250465,5	K562	blood:
16	chr1:112933576..112940137-chr1:113246857..113251993,14	MCF-7	breast:
17	chr1:113008643..113012570-chr1:113247176..113250622,4	MCF-7	breast:
18	chr1:113193696..113198407-chr1:113243250..113250056,8	K562	blood:
19	chr1:113161591..113162551-chr1:113247667..113248390,3	Hela-S3	cervix:
20	chr1:113167944..113171007-chr1:113245720..113249508,3	MCF-7	breast:
21	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
22	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
23	chr1:113161252..113161871-chr1:113247823..113248426,2	MCF-7	breast:

Variant related genes	Relation type
RHOC	TF binding region
ENSG00000140326	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000184599	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000118961	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000155363	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10399919	1.00[AMR][1000 genomes]
rs11102519	1.00[AMR][1000 genomes]
rs11102521	1.00[AMR][1000 genomes]
rs12060267	1.00[AMR][1000 genomes]
rs12069740	1.00[AMR][1000 genomes]
rs12073750	1.00[AMR][1000 genomes]
rs12074157	1.00[AMR][1000 genomes]
rs12077330	1.00[AMR][1000 genomes]
rs12087862	1.00[AMR][1000 genomes]
rs12095563	1.00[AMR][1000 genomes]
rs17030592	1.00[AMR][1000 genomes]
rs4424506	1.00[AMR][1000 genomes]
rs57573777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634778	1.00[AMR][1000 genomes]
rs59053530	1.00[AMR][1000 genomes]
rs61203550	1.00[AMR][1000 genomes]
rs72982599	1.00[AMR][1000 genomes]
rs72984503	1.00[AMR][1000 genomes]
rs72984509	1.00[AMR][1000 genomes]
rs72984515	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986505	1.00[AMR][1000 genomes]
rs9919308	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv872157	chr1:113247467-113265819	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113241600-113249200	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:113246400-113249000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:113246600-113249000	Flanking Active TSS	Hela-S3	cervix
4	chr1:113246800-113248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:113246800-113248600	Flanking Active TSS	HMEC	breast
6	chr1:113246800-113248800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:113246800-113248800	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr1:113246800-113249000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:113246800-113249600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:113246800-113249600	Flanking Active TSS	Dnd41	blood
13	chr1:113247000-113248600	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr1:113247000-113248600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:113247000-113248800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:113247000-113248800	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr1:113247000-113248800	Flanking Active TSS	Left Ventricle	heart
18	chr1:113247000-113248800	Flanking Active TSS	Right Ventricle	heart
19	chr1:113247000-113248800	Flanking Active TSS	HUVEC	blood vessel
20	chr1:113247000-113248800	Flanking Active TSS	NH-A	brain
21	chr1:113247000-113249000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:113247000-113249000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr1:113247000-113249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:113247000-113249000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr1:113247000-113249000	Flanking Active TSS	Fetal Lung	lung
26	chr1:113247000-113249000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr1:113247000-113249000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:113247000-113249000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr1:113247000-113249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:113247200-113248600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:113247200-113248800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:113247200-113248800	Flanking Active TSS	Osteobl	bone
33	chr1:113247200-113249000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:113247200-113249000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:113247200-113249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:113247200-113249000	Flanking Active TSS	K562	blood
37	chr1:113247200-113249400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:113247200-113249400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:113247200-113250400	Active TSS	Aorta	Aorta
40	chr1:113247400-113248400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:113247400-113248400	Flanking Active TSS	NHEK	skin
42	chr1:113247400-113248800	Flanking Active TSS	Fetal Stomach	stomach
43	chr1:113247400-113248800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:113247400-113249000	Flanking Active TSS	Liver	Liver
45	chr1:113247400-113249000	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr1:113247400-113249000	Flanking Active TSS	Placenta	Placenta
47	chr1:113247400-113249000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr1:113247400-113249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:113247400-113250200	Active TSS	Psoas Muscle	Psoas
50	chr1:113247400-113250400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links