Variant report

Variant	rs3105100
Chromosome Location	chr2:95742453-95742454
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95741563..95744104-chr2:95781208..95785106,3	MCF-7	breast:
2	chr2:95734957..95736843-chr2:95739630..95742523,2	K562	blood:
3	chr2:95688513..95689515-chr2:95742193..95743107,6	MCF-7	breast:
4	chr2:95740639..95744132-chr2:95786398..95788059,3	MCF-7	breast:
5	chr2:95742213..95743045-chr2:95780709..95781718,3	K562	blood:
6	chr2:95742298..95743127-chr2:95780829..95781923,6	MCF-7	breast:
7	chr2:95742185..95743100-chr2:95780748..95782071,4	MCF-7	breast:
8	chr2:95687883..95688474-chr2:95742254..95742970,2	MCF-7	breast:
9	chr2:95742041..95743035-chr2:95872603..95873312,3	MCF-7	breast:
10	chr2:95722359..95726880-chr2:95740082..95744931,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144029	Chromatin interaction
ENSG00000233757	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10195614	0.81[AMR][1000 genomes]
rs17119148	0.84[EUR][1000 genomes]
rs1875402	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1966272	0.83[EUR][1000 genomes]
rs2001254	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2098768	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2291991	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2320619	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2320620	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2320621	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320624	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105098	0.81[AMR][1000 genomes]
rs3105101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3105102	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105104	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105105	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3112221	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112222	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3112223	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112225	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112228	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112229	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112230	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3112231	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112982	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112983	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3112984	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112985	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112986	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112987	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112988	0.93[ASN][1000 genomes]
rs3112990	0.94[ASN][1000 genomes]
rs3112995	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112996	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112997	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112999	0.82[EUR][1000 genomes]
rs3113000	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3113001	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4241315	0.82[EUR][1000 genomes]
rs4854243	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4854244	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4854247	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4854249	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6719098	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6723333	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6725821	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7565772	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7585473	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs872580	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][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	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv963662	chr2:95739492-95770323	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95739000-95742600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:95739800-95743200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr2:95740000-95743000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:95740000-95743200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:95740000-95743200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr2:95740000-95743200	Flanking Active TSS	Fetal Thymus	thymus
7	chr2:95740000-95743400	Flanking Active TSS	Dnd41	blood
8	chr2:95740200-95743200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:95740600-95742800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:95740800-95743000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr2:95741400-95742600	Weak transcription	Lung	lung
12	chr2:95741600-95742600	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr2:95741600-95743000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr2:95741600-95743600	Flanking Active TSS	Thymus	Thymus
15	chr2:95741800-95742600	Bivalent Enhancer	Fetal Lung	lung
16	chr2:95742000-95742600	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr2:95742000-95743000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:95742000-95743400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr2:95742200-95742600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr2:95742200-95742600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr2:95742200-95742800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:95742200-95742800	Active TSS	Primary T cells from cord blood	blood
23	chr2:95742200-95742800	Flanking Active TSS	Placenta	Placenta
24	chr2:95742200-95742800	Active TSS	A549	lung
25	chr2:95742200-95743000	Enhancers	Primary B cells from cord blood	blood
26	chr2:95742200-95743200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:95742400-95742600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:95742400-95742600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:95742400-95742600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:95742400-95742600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:95742400-95742600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:95742400-95742600	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr2:95742400-95742600	Enhancers	Aorta	Aorta
34	chr2:95742400-95742600	Enhancers	Liver	Liver
35	chr2:95742400-95742600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr2:95742400-95742600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:95742400-95742600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr2:95742400-95742600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr2:95742400-95742600	Enhancers	Esophagus	oesophagus
40	chr2:95742400-95742600	Flanking Active TSS	Fetal Brain Female	brain
41	chr2:95742400-95742600	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr2:95742400-95742600	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr2:95742400-95742600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr2:95742400-95742600	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:95742400-95742600	Flanking Active TSS	Gastric	stomach
46	chr2:95742400-95742600	Bivalent Enhancer	Left Ventricle	heart
47	chr2:95742400-95742600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:95742400-95742600	Active TSS	Psoas Muscle	Psoas
49	chr2:95742400-95742600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:95742400-95742600	Genic enhancers	Right Atrium	heart

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