Variant report

Variant	rs35338711
Chromosome Location	chr18:43694439-43694440
allele	G/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	GATA3	chr18:43693532-43694464	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr18:43693493-43694505	MCF-7	breast:	n/a	n/a
3	ZNF263	chr18:43694425-43694946	HEK293-T-REx	kidney:	n/a	chr18:43694745-43694766
4	POLR2A	chr18:43694373-43694516	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr18:43693552-43694542	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:43382345..43383228-chr18:43693413..43694665,9	MCF-7	breast:
2	chr18:43382345..43383220-chr18:43693927..43694665,4	MCF-7	breast:
3	chr18:43693313..43695654-chr18:43701254..43702868,2	MCF-7	breast:

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

Extended variants
information (count: 68 )
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	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12605796	0.83[ASN][1000 genomes]
rs12606184	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607480	0.97[ASN][1000 genomes]
rs12959543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963169	1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[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	0.96[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	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];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	0.91[AFR][1000 genomes];0.89[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]
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	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59082804	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];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]
rs7226736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229971	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7230180	0.97[ASN][1000 genomes]
rs7233665	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];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	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8090410	0.83[ASN][1000 genomes]
rs8096643	1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[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	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965812	0.81[ASN][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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
2	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
3	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
5	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
6	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
7	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
9	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain
16	chr18:43685400-43704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
20	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
24	chr18:43685400-43717200	Weak transcription	HepG2	liver
25	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
27	chr18:43685600-43702400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:43686000-43696400	Strong transcription	Fetal Stomach	stomach
29	chr18:43686000-43710200	Weak transcription	NHEK	skin
30	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
31	chr18:43686600-43697600	Strong transcription	Fetal Thymus	thymus
32	chr18:43686600-43708200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr18:43688200-43705400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr18:43689600-43705000	Weak transcription	Gastric	stomach
35	chr18:43690000-43703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:43690200-43702200	Weak transcription	Brain Angular Gyrus	brain
38	chr18:43690200-43702200	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:43690600-43705000	Weak transcription	Brain Germinal Matrix	brain
40	chr18:43693000-43695400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:43693000-43695600	Strong transcription	Thymus	Thymus
42	chr18:43693000-43697000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:43693200-43694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:43693200-43695200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr18:43693200-43695200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:43693200-43695200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:43693200-43695200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr18:43693200-43695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:43693200-43695800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:43693200-43697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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