Variant report

Variant	rs1307487
Chromosome Location	chr1:10506667-10506668
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	POLR2A	chr1:10506661-10507392	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:10506652-10506863	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10504894..10507712-chr1:10531224..10533831,2	K562	blood:

Variant related genes	Relation type
CORT	TF binding region
ENSG00000160049	Chromatin interaction
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10746494	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11121579	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1203122	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12565133	0.86[ASN][1000 genomes]
rs1307485	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1750349	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1760664	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2483684	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2781233	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36013615	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs475549	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs481571	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs491880	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs505141	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs517241	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs519472	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs520964	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs522029	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs522280	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs524150	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs528713	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs579398	0.83[ASN][1000 genomes]
rs583515	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs585703	0.85[ASN][1000 genomes]
rs586096	0.84[EUR][1000 genomes]
rs586223	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597441	0.82[EUR][1000 genomes]
rs628462	0.91[ASN][1000 genomes]
rs632690	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs634358	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs643400	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs649101	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs649639	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs655271	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs663864	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs666583	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs667366	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs670666	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs672606	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs673254	0.80[EUR][1000 genomes]
rs678850	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs681448	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs681495	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:10491400-10519000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:10491400-10521000	Weak transcription	Ovary	ovary
3	chr1:10491400-10521200	Weak transcription	Aorta	Aorta
4	chr1:10491600-10508000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:10491600-10510200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:10491600-10510200	Weak transcription	Gastric	stomach
7	chr1:10491600-10510400	Weak transcription	Right Atrium	heart
8	chr1:10491600-10511000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:10491600-10511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:10491600-10511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:10491600-10516200	Weak transcription	HMEC	breast
12	chr1:10491600-10517800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:10491600-10518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:10491600-10518000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:10491600-10519200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:10491600-10521200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:10491600-10521200	Weak transcription	Left Ventricle	heart
18	chr1:10491600-10521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:10491600-10521200	Weak transcription	Spleen	Spleen
20	chr1:10491600-10521400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:10491800-10508400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:10491800-10508800	Weak transcription	Colonic Mucosa	Colon
23	chr1:10491800-10509600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:10491800-10510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:10491800-10510200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:10491800-10510200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:10491800-10510200	Weak transcription	NHLF	lung
28	chr1:10491800-10510800	Weak transcription	Osteobl	bone
29	chr1:10491800-10511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:10491800-10511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:10491800-10511000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:10491800-10511200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:10491800-10511400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:10491800-10511400	Weak transcription	NH-A	brain
35	chr1:10491800-10516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:10491800-10516600	Weak transcription	HSMM	muscle
37	chr1:10491800-10520600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:10492000-10510000	Weak transcription	NHDF-Ad	bronchial
39	chr1:10492000-10521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:10492200-10509200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:10492200-10510800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:10492400-10517200	Weak transcription	Brain Germinal Matrix	brain
43	chr1:10492800-10509400	Weak transcription	Fetal Brain Male	brain
44	chr1:10493200-10511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:10493400-10510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:10493600-10510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:10493600-10516800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:10493800-10510000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:10494000-10511400	Weak transcription	Stomach Mucosa	stomach
50	chr1:10494200-10518800	Weak transcription	K562	blood

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