Variant report

Variant	rs1495846
Chromosome Location	chr1:227730356-227730357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227725436..227728346-chr1:227728933..227731230,4	MCF-7	breast:
2	chr1:227728970..227731707-chr1:227751101..227754291,3	MCF-7	breast:
3	chr1:227726703..227728573-chr1:227729012..227731358,2	K562	blood:
4	chr1:227729010..227735281-chr1:227748522..227752811,6	MCF-7	breast:
5	chr1:227725578..227727494-chr1:227729728..227731720,2	MCF-7	breast:
6	chr1:227730297..227731134-chr12:34260025..34260625,2	MCF-7	breast:
7	chr1:227729455..227731523-chr1:227733555..227735249,2	K562	blood:

Variant related genes	Relation type
ENSG00000202264	Chromatin interaction
ENSG00000181450	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10047205	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10916178	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10916192	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12059899	0.82[EUR][1000 genomes]
rs12069550	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12070539	0.82[EUR][1000 genomes]
rs12080590	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12082414	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12092295	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12095502	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12096675	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1495849	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16847966	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16847991	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16847992	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16848029	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1923821	0.82[EUR][1000 genomes]
rs2012432	0.82[EUR][1000 genomes]
rs2132366	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2256599	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2453682	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2644143	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2644144	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2644146	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2644153	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2644161	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2814059	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2814060	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2814061	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814084	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2814085	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2819496	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2819498	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2819507	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2819511	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3748806	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4376731	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4589104	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58020705	0.80[AMR][1000 genomes]
rs59034043	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59753688	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66471275	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66491073	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6659745	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66736638	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6688145	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6693348	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66938123	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67511833	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67676707	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68186506	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72632830	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72632831	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72632832	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72748074	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7413796	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs753541	0.82[EUR][1000 genomes]
rs7539151	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs903692	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs903693	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs903694	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs903695	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs965942	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr1:227728800-227730400	Active TSS	Brain Anterior Caudate	brain
2	chr1:227729200-227730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:227729200-227730400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:227729200-227730400	Active TSS	Colon Smooth Muscle	Colon
5	chr1:227729200-227730400	Active TSS	Fetal Brain Female	brain
6	chr1:227729200-227730400	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:227729200-227730600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:227729200-227731000	Active TSS	Colonic Mucosa	Colon
9	chr1:227729400-227730400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:227729400-227730400	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:227729400-227730400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:227729400-227730600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:227729400-227730600	Active TSS	Fetal Intestine Large	intestine
14	chr1:227729400-227730600	Active TSS	Fetal Stomach	stomach
15	chr1:227729400-227730600	Active TSS	Left Ventricle	heart
16	chr1:227729400-227730600	Active TSS	Osteobl	bone
17	chr1:227729400-227730800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:227729400-227730800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:227729400-227730800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr1:227729400-227730800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:227729400-227730800	Active TSS	Psoas Muscle	Psoas
22	chr1:227729400-227730800	Active TSS	Right Atrium	heart
23	chr1:227729400-227730800	Active TSS	HSMM	muscle
24	chr1:227729400-227730800	Active TSS	NHLF	lung
25	chr1:227729400-227731000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:227729400-227731000	Enhancers	Stomach Mucosa	stomach
27	chr1:227729400-227731200	Enhancers	Fetal Brain Male	brain
28	chr1:227729600-227730400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:227729600-227730400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:227729600-227730400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:227729600-227730400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:227729600-227730400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:227729600-227730400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227729600-227730400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:227729600-227730400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:227729600-227730400	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:227729600-227730400	Active TSS	Fetal Muscle Trunk	muscle
38	chr1:227729600-227730400	Active TSS	Lung	lung
39	chr1:227729600-227730400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:227729600-227730400	Bivalent/Poised TSS	Thymus	Thymus
41	chr1:227729600-227730600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:227729600-227730600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:227729600-227730600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:227729600-227730600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:227729600-227730600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr1:227729600-227730600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:227729600-227730600	Active TSS	Brain Hippocampus Middle	brain
48	chr1:227729600-227730600	Active TSS	Brain Substantia Nigra	brain
49	chr1:227729600-227730600	Weak transcription	Fetal Heart	heart
50	chr1:227729600-227730600	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links