Variant report

Variant	rs55785997
Chromosome Location	chr2:112661447-112661448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112660151..112661755-chr2:112668828..112671671,2	MCF-7	breast:
2	chr2:112659908..112662713-chr2:112675959..112678023,2	MCF-7	breast:
3	chr2:112656058..112658724-chr2:112660197..112662923,3	K562	blood:
4	chr2:112661372..112664297-chr6:56977546..56979704,2	MCF-7	breast:
5	chr2:112661215..112662766-chr2:112664404..112666114,2	MCF-7	breast:
6	chr2:112656058..112657680-chr2:112660254..112662224,2	K562	blood:

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1113419	0.89[EUR][1000 genomes]
rs11884641	0.83[EUR][1000 genomes]
rs11884693	0.83[EUR][1000 genomes]
rs11887652	0.83[EUR][1000 genomes]
rs11902247	0.88[EUR][1000 genomes]
rs12466812	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12469210	0.83[EUR][1000 genomes]
rs12470338	0.88[EUR][1000 genomes]
rs12477716	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400321	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400324	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1400325	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1516629	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17174870	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17175275	0.89[EUR][1000 genomes]
rs17175331	0.89[EUR][1000 genomes]
rs17835605	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001201	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2001444	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4278932	0.83[EUR][1000 genomes]
rs4349353	0.83[EUR][1000 genomes]
rs4434006	0.88[EUR][1000 genomes]
rs4521048	0.82[EUR][1000 genomes]
rs4528767	0.82[EUR][1000 genomes]
rs55708724	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55728465	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55766181	0.83[EUR][1000 genomes]
rs55799805	0.83[EUR][1000 genomes]
rs55972521	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56272510	0.89[EUR][1000 genomes]
rs57640566	0.91[EUR][1000 genomes]
rs57732600	0.81[EUR][1000 genomes]
rs58065683	0.82[EUR][1000 genomes]
rs58641606	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59650987	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61583444	0.81[EUR][1000 genomes]
rs6710733	0.81[EUR][1000 genomes]
rs6729037	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737989	0.80[EUR][1000 genomes]
rs7563113	0.83[EUR][1000 genomes]
rs7568632	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7575552	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7578057	0.89[EUR][1000 genomes]
rs867311	0.96[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	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS 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	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112657000-112662600	Weak transcription	Spleen	Spleen
2	chr2:112657000-112663400	Weak transcription	Dnd41	blood
3	chr2:112657000-112663600	Weak transcription	Small Intestine	intestine
4	chr2:112657400-112661600	Weak transcription	Right Ventricle	heart
5	chr2:112657400-112662200	Weak transcription	Gastric	stomach
6	chr2:112657400-112662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:112657400-112664400	Weak transcription	Pancreas	Pancrea
8	chr2:112657800-112662200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:112657800-112662400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:112658000-112662400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:112658400-112663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:112658600-112663600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:112658800-112662400	Weak transcription	Lung	lung
14	chr2:112658800-112663400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:112658800-112663800	Weak transcription	Ovary	ovary
16	chr2:112658800-112665000	Enhancers	Liver	Liver
17	chr2:112659000-112661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:112659000-112661800	Genic enhancers	HepG2	liver
19	chr2:112659000-112662200	Weak transcription	Fetal Lung	lung
20	chr2:112659000-112662200	Weak transcription	Placenta	Placenta
21	chr2:112659000-112662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:112659000-112663600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:112659000-112663800	Enhancers	HUVEC	blood vessel
24	chr2:112659200-112662200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:112659400-112661600	Weak transcription	Right Atrium	heart
26	chr2:112660000-112662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:112660000-112663600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:112660000-112663800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:112660000-112665800	Enhancers	Left Ventricle	heart
30	chr2:112660200-112661800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:112660200-112662600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:112660200-112663600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:112660200-112664400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:112660200-112674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:112660400-112664600	Enhancers	K562	blood
36	chr2:112660600-112661800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:112660600-112661800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:112660600-112661800	Enhancers	Fetal Intestine Small	intestine
39	chr2:112660600-112664800	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:112660800-112661600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:112660800-112661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:112660800-112661600	Enhancers	Fetal Intestine Large	intestine
43	chr2:112660800-112663800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:112660800-112664000	Enhancers	Brain Substantia Nigra	brain
45	chr2:112660800-112664200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:112660800-112664600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:112661000-112661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:112661000-112661800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:112661000-112663000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:112661000-112663600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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