Variant report

Variant	rs7226736
Chromosome Location	chr18:43694139-43694140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr18:43693532-43694464	MCF-7	breast:	n/a	n/a
2	TCF12	chr18:43693579-43694284	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr18:43693493-43694505	MCF-7	breast:	n/a	n/a
4	EP300	chr18:43693591-43694180	MCF-7	breast:	n/a	n/a
5	IRF1	chr18:43694039-43694164	K562	blood:	n/a	n/a
6	EP300	chr18:43693553-43694321	MCF-7	breast:	n/a	n/a
7	ZNF217	chr18:43693721-43694236	MCF-7	breast:	n/a	n/a
8	FOXM1	chr18:43693687-43694175	MCF-7	breast:	n/a	n/a
9	ESR1	chr18:43693690-43694213	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
10	SIN3AK20	chr18:43693598-43694304	MCF-7	breast:	n/a	n/a
11	NR2F2	chr18:43693682-43694364	MCF-7	breast:	n/a	n/a
12	ESR1	chr18:43693668-43694277	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
13	FOXM1	chr18:43693597-43694204	MCF-7	breast:	n/a	n/a
14	GATA3	chr18:43693730-43694281	MCF-7	breast:	n/a	n/a
15	TCF7L2	chr18:43693777-43694306	MCF-7	breast:	n/a	n/a
16	ESR1	chr18:43693683-43694157	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
17	NR2F2	chr18:43693616-43694299	MCF-7	breast:	n/a	n/a
18	TEAD4	chr18:43693688-43694142	MCF-7	breast:	n/a	n/a
19	GATA3	chr18:43693760-43694296	MCF-7	breast:	n/a	n/a
20	GATA3	chr18:43693502-43694394	MCF-7	breast:	n/a	n/a
21	TCF12	chr18:43693552-43694542	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43438461..43439020-chr18:43693544..43694235,3	MCF-7	breast:
2	chr18:43382304..43383428-chr18:43693409..43694393,6	MCF-7	breast:
3	chr18:43693592..43694379-chr18:43853310..43854326,4	MCF-7	breast:
4	chr18:43693530..43694324-chr18:43955585..43956477,2	MCF-7	breast:
5	chr18:43693585..43694244-chr18:43853397..43854145,2	MCF-7	breast:
6	chr18:43693794..43694379-chr18:43853567..43854326,2	MCF-7	breast:
7	chr18:43382345..43383228-chr18:43693413..43694665,9	MCF-7	breast:
8	chr18:43382345..43383220-chr18:43693927..43694665,4	MCF-7	breast:
9	chr18:43693313..43695654-chr18:43701254..43702868,2	MCF-7	breast:

No data

Variant related genes	Relation type
HAUS1	TF binding region
ENSG00000152223	Chromatin interaction
ENSG00000251939	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11876373	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12604134	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12605796	0.83[ASN][1000 genomes]
rs12606184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607480	0.97[ASN][1000 genomes]
rs12959543	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612622	0.85[ASN][1000 genomes]
rs1791401	0.81[ASN][1000 genomes]
rs1791406	0.83[ASN][1000 genomes]
rs1791407	0.85[ASN][1000 genomes]
rs1866321	0.82[ASN][1000 genomes]
rs1866322	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467669	0.88[ASN][1000 genomes]
rs2515639	0.88[ASN][1000 genomes]
rs2578184	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578187	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578188	0.86[ASN][1000 genomes]
rs2578189	0.88[ASN][1000 genomes]
rs2578190	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2578193	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28372325	0.82[EUR][1000 genomes]
rs28497462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850644	0.88[ASN][1000 genomes]
rs2852362	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2852363	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2853801	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2853802	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28715068	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28768435	0.97[ASN][1000 genomes]
rs28805990	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28809822	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886001	0.85[ASN][1000 genomes]
rs35029196	0.85[ASN][1000 genomes]
rs35122885	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35338711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35360831	0.88[ASN][1000 genomes]
rs35657986	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3744992	0.88[ASN][1000 genomes]
rs4243278	0.90[ASN][1000 genomes]
rs4260155	0.89[ASN][1000 genomes]
rs4274509	0.85[ASN][1000 genomes]
rs474878	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890624	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890625	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59082804	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60986007	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6507664	0.82[ASN][1000 genomes]
rs71364518	0.88[ASN][1000 genomes]
rs7229971	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7230180	0.97[ASN][1000 genomes]
rs7233665	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8083916	0.97[ASN][1000 genomes]
rs8085233	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8085773	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8088422	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8090410	0.83[ASN][1000 genomes]
rs8096643	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9946831	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9952157	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9954133	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954534	0.80[EUR][1000 genomes]
rs9954565	0.82[ASN][1000 genomes]
rs9965365	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965812	0.81[ASN][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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3380140	chr18:43690954-43694252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:43685000-43694400	Weak transcription	Esophagus	oesophagus
3	chr18:43685000-43694400	Weak transcription	Left Ventricle	heart
4	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
5	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
6	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
8	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
9	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
10	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
12	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr18:43685400-43694200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:43685400-43694200	Weak transcription	NHLF	lung
16	chr18:43685400-43694400	Weak transcription	Lung	lung
17	chr18:43685400-43694400	Weak transcription	Ovary	ovary
18	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain
23	chr18:43685400-43704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
27	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
31	chr18:43685400-43717200	Weak transcription	HepG2	liver
32	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
34	chr18:43685600-43694400	Weak transcription	Osteobl	bone
35	chr18:43685600-43702400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:43685800-43694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:43685800-43694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:43686000-43696400	Strong transcription	Fetal Stomach	stomach
39	chr18:43686000-43710200	Weak transcription	NHEK	skin
40	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
41	chr18:43686600-43697600	Strong transcription	Fetal Thymus	thymus
42	chr18:43686600-43708200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:43688200-43705400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr18:43689600-43705000	Weak transcription	Gastric	stomach
45	chr18:43690000-43703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:43690200-43702200	Weak transcription	Brain Angular Gyrus	brain
48	chr18:43690200-43702200	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:43690600-43694400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:43690600-43705000	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links