Variant report

Variant	rs11123767
Chromosome Location	chr2:99784859-99784860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99783012..99785581-chr2:99788813..99790457,2	MCF-7	breast:
2	chr2:99772739..99776053-chr2:99782752..99785644,3	K562	blood:
3	chr2:99772683..99774239-chr2:99783479..99785071,2	K562	blood:
4	chr2:99782491..99787778-chr2:99795073..99800536,8	MCF-7	breast:
5	chr2:99770250..99773199-chr2:99783967..99787710,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144182	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000241962	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10496334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10496335	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123760	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123768	0.93[EUR][1000 genomes]
rs11526114	0.86[EUR][1000 genomes]
rs12233087	0.86[EUR][1000 genomes]
rs12620997	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586434	0.86[EUR][1000 genomes]
rs17022180	0.84[ASN][1000 genomes]
rs17022249	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28785294	1.00[EUR][1000 genomes]
rs28794804	0.84[ASN][1000 genomes]
rs34751553	0.81[ASN][1000 genomes]
rs35071324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35458525	0.81[ASN][1000 genomes]
rs3762472	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850895	0.83[ASN][1000 genomes]
rs56691336	0.81[ASN][1000 genomes]
rs56926889	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57273701	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57743480	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58595226	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58635701	0.93[EUR][1000 genomes]
rs58745514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59252741	0.83[ASN][1000 genomes]
rs59506582	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60056452	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60516303	0.84[ASN][1000 genomes]
rs60653099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6719145	0.86[EUR][1000 genomes]
rs6746969	0.86[EUR][1000 genomes]
rs6748497	0.86[EUR][1000 genomes]
rs6749198	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7568749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9752510	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99772200-99795600	Weak transcription	Gastric	stomach
2	chr2:99772400-99786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99772400-99786200	Weak transcription	Psoas Muscle	Psoas
4	chr2:99772400-99795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:99772400-99795600	Weak transcription	Small Intestine	intestine
6	chr2:99772400-99796400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:99772400-99796600	Weak transcription	Right Ventricle	heart
8	chr2:99772400-99796800	Weak transcription	Colonic Mucosa	Colon
9	chr2:99772400-99797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:99772600-99786200	Weak transcription	NHLF	lung
11	chr2:99772600-99795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:99772600-99796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:99772600-99796600	Weak transcription	Fetal Kidney	kidney
14	chr2:99772600-99797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:99772800-99786000	Weak transcription	Hela-S3	cervix
16	chr2:99772800-99796400	Weak transcription	Fetal Heart	heart
17	chr2:99773000-99796400	Weak transcription	Fetal Brain Male	brain
18	chr2:99773200-99790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:99773600-99785000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:99773600-99790400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:99774000-99796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:99774200-99786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:99774600-99795400	Weak transcription	K562	blood
24	chr2:99775000-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:99775200-99788600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:99775200-99790400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:99775400-99795400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:99775800-99790400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:99776400-99795600	Weak transcription	Fetal Lung	lung
30	chr2:99776600-99795200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:99778200-99785200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:99779200-99786200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:99779400-99795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:99780400-99790400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:99780600-99790400	Strong transcription	Dnd41	blood
36	chr2:99780600-99791000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:99780800-99787200	Strong transcription	Fetal Stomach	stomach
38	chr2:99780800-99791000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:99781000-99789800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:99781000-99790400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:99781000-99790400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:99781000-99790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:99781000-99790800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:99781000-99790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:99781200-99786000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:99781200-99788600	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:99781200-99790400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:99781200-99790400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:99781200-99791000	Strong transcription	Fetal Thymus	thymus
50	chr2:99781400-99790400	Strong transcription	Adipose Nuclei	Adipose

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