Variant report

Variant	rs3866218
Chromosome Location	chr1:113585935-113585936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113421587..113424736-chr1:113583992..113587746,3	K562	blood:
2	chr1:113497364..113499320-chr1:113583841..113586175,3	K562	blood:
3	chr1:113490213..113492007-chr1:113585398..113587870,2	K562	blood:
4	chr1:113585139..113585958-chr1:113615102..113615803,3	K562	blood:
5	chr1:113585683..113588057-chr1:113615686..113617260,2	K562	blood:
6	chr1:113423270..113424538-chr1:113584948..113585944,13	K562	blood:
7	chr1:113582365..113584393-chr1:113584924..113587944,3	K562	blood:
8	chr1:113477969..113479659-chr1:113584664..113586231,2	K562	blood:
9	chr1:113577576..113579367-chr1:113585664..113588475,2	K562	blood:
10	chr1:113456052..113457873-chr1:113583219..113586071,2	K562	blood:
11	chr1:113496133..113500283-chr1:113583331..113586865,6	K562	blood:
12	chr1:113584615..113586115-chr20:55844916..55846959,2	MCF-7	breast:
13	chr1:113498071..113501633-chr1:113584474..113587906,3	MCF-7	breast:
14	chr1:113422357..113424436-chr1:113583945..113586627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198799	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000238198	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10158316	1.00[EUR][1000 genomes]
rs12059435	1.00[EUR][1000 genomes]
rs12067118	1.00[EUR][1000 genomes]
rs12070103	1.00[EUR][1000 genomes]
rs12070165	1.00[EUR][1000 genomes]
rs17030801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17030825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17030972	1.00[EUR][1000 genomes]
rs17031107	1.00[EUR][1000 genomes]
rs3892517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41510545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55879014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56037773	1.00[EUR][1000 genomes]
rs57514267	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57546902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175041	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60031820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60103137	1.00[EUR][1000 genomes]
rs60860858	1.00[EUR][1000 genomes]
rs61134101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657154	1.00[EUR][1000 genomes]
rs6678201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694556	1.00[EUR][1000 genomes]
rs6697225	1.00[EUR][1000 genomes]
rs72982471	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72984355	1.00[EUR][1000 genomes]
rs72986328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72986329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72986335	1.00[EUR][1000 genomes]
rs72986336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72986345	1.00[EUR][1000 genomes]
rs73000304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531239	1.00[EUR][1000 genomes]
rs7534668	1.00[EUR][1000 genomes]
rs7539797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540353	1.00[AMR][1000 genomes]
rs7541153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308259	1.00[EUR][1000 genomes]
rs9429498	1.00[EUR][1000 genomes]
rs9429499	1.00[EUR][1000 genomes]
rs9429502	1.00[EUR][1000 genomes]
rs9429699	1.00[EUR][1000 genomes]
rs9429703	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
12	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113580200-113589200	Weak transcription	Right Atrium	heart
2	chr1:113582600-113586000	Enhancers	Fetal Heart	heart
3	chr1:113582600-113586400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:113582600-113587400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:113582800-113587600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:113583400-113586600	Enhancers	NHEK	skin
7	chr1:113583800-113586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:113583800-113586600	Enhancers	Brain Anterior Caudate	brain
9	chr1:113584000-113586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:113584000-113586600	Enhancers	HSMM	muscle
11	chr1:113584000-113586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:113584000-113586800	Enhancers	Fetal Intestine Small	intestine
13	chr1:113584200-113586200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:113584200-113586400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:113584200-113586600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:113584200-113586800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:113584200-113586800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:113584400-113586000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:113584400-113586000	Enhancers	Dnd41	blood
20	chr1:113584400-113586400	Enhancers	Osteobl	bone
21	chr1:113584400-113586600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:113584400-113586600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:113584400-113586600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:113584400-113586600	Enhancers	Placenta	Placenta
25	chr1:113584400-113586800	Enhancers	Fetal Intestine Large	intestine
26	chr1:113584400-113586800	Enhancers	Fetal Kidney	kidney
27	chr1:113584400-113587000	Enhancers	Fetal Thymus	thymus
28	chr1:113584600-113586000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:113584600-113586000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:113584600-113586400	Enhancers	NHDF-Ad	bronchial
31	chr1:113584600-113586600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:113584600-113586800	Enhancers	Colonic Mucosa	Colon
33	chr1:113584800-113586000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:113584800-113586000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:113584800-113586200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:113584800-113586200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:113584800-113586600	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:113584800-113586800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:113584800-113589400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:113585000-113586000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:113585000-113586000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:113585000-113586000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:113585000-113586200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:113585000-113586200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:113585000-113591000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:113585200-113586000	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:113585200-113586000	Enhancers	Left Ventricle	heart
48	chr1:113585200-113586200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:113585200-113586600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:113585200-113588000	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links