Variant report

Variant	rs1186
Chromosome Location	chr1:227177731-227177732
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:227177717-227178249	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:227177612-227177765	MCF10A-Er-Src	breast:	n/a	n/a
3	ZC3H11A	chr1:227177729-227178167	K562	blood:	n/a	n/a
4	ARID3A	chr1:227177679-227178122	K562	blood:	n/a	n/a
5	POLR2A	chr1:227169948-227179599	K562	blood:	n/a	n/a
6	MAZ	chr1:227177717-227178131	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:227177718-227178307	HUVEC	blood vessel:	n/a	n/a
8	GATA1	chr1:227177605-227178502	PBDE	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227127714..227130249-chr1:227177075..227179669,4	K562	blood:
2	chr1:227176748..227179639-chr1:227203696..227206126,2	K562	blood:
3	chr1:227176058..227178515-chr1:227186795..227190068,3	MCF-7	breast:
4	chr1:227126152..227130822-chr1:227174735..227178540,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233706	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1045252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1045285	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1045286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045287	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1045289	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916075	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11577007	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11578103	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11578479	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11580229	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11586604	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588904	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11589344	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403236	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12406714	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12409230	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12409428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12409755	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12410103	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12593	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1343743	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1343744	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17528667	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17600627	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17600669	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1929862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1929863	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1929864	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2104860	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2183836	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297412	0.96[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297415	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297416	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297418	0.96[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3738725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3738729	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3768419	0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3768421	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3768423	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3768424	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795445	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3795446	0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3795449	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3795451	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795453	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61834001	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61834004	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834005	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834006	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6426558	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6426559	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6659424	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6664955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6670924	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6677602	0.92[CEU][hapmap]
rs6684821	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6690803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693535	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6699400	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6704144	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68087483	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535826	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7541033	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7549465	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7549586	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7552783	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9726097	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9727512	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1186	ADCK3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
3	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227162400-227181600	Weak transcription	NHEK	skin
6	chr1:227163000-227180000	Weak transcription	HSMM	muscle
7	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
9	chr1:227173200-227178200	Weak transcription	Fetal Kidney	kidney
10	chr1:227173400-227178200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:227173400-227178600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:227173400-227183400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:227173800-227178400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:227174000-227178200	Enhancers	Brain Substantia Nigra	brain
15	chr1:227174800-227179400	Enhancers	Stomach Mucosa	stomach
16	chr1:227174800-227182000	Weak transcription	NHDF-Ad	bronchial
17	chr1:227175000-227178400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:227175200-227181200	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:227175200-227198400	Weak transcription	A549	lung
20	chr1:227175200-227210200	Weak transcription	HMEC	breast
21	chr1:227175400-227178000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:227175400-227178400	Enhancers	Brain Hippocampus Middle	brain
23	chr1:227175400-227178400	Enhancers	Psoas Muscle	Psoas
24	chr1:227175400-227178800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:227175400-227182600	Genic enhancers	Fetal Intestine Small	intestine
26	chr1:227175600-227178200	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:227175600-227178200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:227175600-227178800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:227175600-227179000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:227175600-227179200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:227175600-227180600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:227175600-227181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:227175600-227182200	Weak transcription	Brain Germinal Matrix	brain
34	chr1:227175600-227183200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:227175800-227177800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:227175800-227178000	Weak transcription	Ovary	ovary
38	chr1:227175800-227178400	Enhancers	Lung	lung
39	chr1:227175800-227178600	Enhancers	Colon Smooth Muscle	Colon
40	chr1:227175800-227179000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:227175800-227180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:227175800-227181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:227175800-227181800	Enhancers	Fetal Intestine Large	intestine
44	chr1:227176000-227178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:227176000-227178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:227176000-227178400	Enhancers	Colonic Mucosa	Colon
47	chr1:227176000-227178400	Enhancers	Right Ventricle	heart
48	chr1:227176000-227179200	Enhancers	HepG2	liver
49	chr1:227176000-227181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:227176000-227181800	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links