Variant report

Variant	rs1152621
Chromosome Location	chr11:65258917-65258918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65257969..65260033-chr11:65313716..65316441,2	MCF-7	breast:
2	chr11:65257713..65260101-chr3:73159087..73161384,2	MCF-7	breast:
3	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
4	chr11:65258227..65260827-chr11:65379985..65382720,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000168056	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1152622	1.00[AMR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194336	0.83[AMR][1000 genomes]
rs1194339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	0.85[LWK][hapmap];0.87[MKK][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
4	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
5	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
6	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
7	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
8	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
9	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
10	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
11	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
12	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
13	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
14	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
15	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
17	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
18	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
19	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 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	chr11:65252200-65259200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:65252400-65262400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:65252800-65262200	Enhancers	Liver	Liver
4	chr11:65252800-65262400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:65252800-65264400	Enhancers	Placenta	Placenta
6	chr11:65252800-65265200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:65253200-65263800	Enhancers	Fetal Thymus	thymus
8	chr11:65253200-65264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:65253400-65264400	Enhancers	Left Ventricle	heart
10	chr11:65254000-65261200	Enhancers	Lung	lung
11	chr11:65254000-65261800	Enhancers	Psoas Muscle	Psoas
12	chr11:65254000-65263800	Enhancers	Right Atrium	heart
13	chr11:65254200-65262200	Enhancers	Fetal Intestine Large	intestine
14	chr11:65254200-65264200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:65254400-65262200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:65254800-65259800	Enhancers	Primary B cells from cord blood	blood
17	chr11:65254800-65262200	Enhancers	Spleen	Spleen
18	chr11:65254800-65264200	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:65255000-65262200	Enhancers	HUVEC	blood vessel
20	chr11:65255200-65263600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:65255400-65262000	Enhancers	Pancreas	Pancrea
22	chr11:65255600-65260400	Enhancers	Gastric	stomach
23	chr11:65255800-65259200	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:65255800-65259200	Enhancers	Fetal Brain Male	brain
25	chr11:65255800-65260000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:65255800-65260000	Enhancers	Fetal Lung	lung
27	chr11:65255800-65260800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:65255800-65261600	Enhancers	Fetal Kidney	kidney
29	chr11:65255800-65262400	Enhancers	HMEC	breast
30	chr11:65255800-65263400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:65255800-65264200	Enhancers	Fetal Stomach	stomach
32	chr11:65255800-65264200	Enhancers	Stomach Mucosa	stomach
33	chr11:65256000-65259000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:65256000-65259400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:65256000-65259400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:65256000-65259400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:65256000-65261800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:65256000-65262200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:65256000-65263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:65256000-65264000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:65256000-65264000	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:65256000-65264000	Enhancers	Fetal Muscle Leg	muscle
43	chr11:65256000-65265200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:65256200-65259000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:65256200-65259000	Enhancers	NH-A	brain
46	chr11:65256200-65261200	Weak transcription	Primary T cells from cord blood	blood
47	chr11:65256200-65261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:65256200-65262400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:65256200-65262400	Enhancers	Brain Angular Gyrus	brain
50	chr11:65256200-65262600	Enhancers	Cortex derived primary cultured neurospheres	brain

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