Variant report

Variant	rs59598510
Chromosome Location	chr11:65071156-65071157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65069804..65073694-chr11:65083588..65086129,5	K562	blood:
2	chr11:65063249..65064766-chr11:65069700..65072312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[AFR][1000 genomes];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]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];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]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic 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	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS 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	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong 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	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65042800-65072800	Strong transcription	Dnd41	blood
2	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
3	chr11:65062800-65077200	Weak transcription	Fetal Brain Male	brain
4	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:65064000-65071200	Weak transcription	GM12878-XiMat	blood
6	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:65066000-65073400	Strong transcription	Thymus	Thymus
9	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:65066200-65071200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:65066200-65076200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:65066200-65078000	Weak transcription	HMEC	breast
13	chr11:65066400-65071200	Weak transcription	NHEK	skin
14	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:65066600-65071600	Weak transcription	Pancreas	Pancrea
16	chr11:65066600-65072800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:65066600-65076000	Weak transcription	Osteobl	bone
18	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65066800-65071200	Weak transcription	Psoas Muscle	Psoas
21	chr11:65066800-65073000	Weak transcription	NH-A	brain
22	chr11:65067000-65075800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:65067000-65076400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65067000-65081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65067200-65071200	Enhancers	Fetal Muscle Leg	muscle
26	chr11:65067200-65071600	Weak transcription	Liver	Liver
27	chr11:65067200-65076000	Weak transcription	Fetal Brain Female	brain
28	chr11:65067400-65075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:65068200-65079200	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:65068400-65071200	Enhancers	Fetal Intestine Large	intestine
31	chr11:65068600-65072000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:65068600-65079800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:65069400-65077600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:65069600-65075800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:65069800-65072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:65069800-65073000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:65069800-65073000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:65069800-65073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:65069800-65073600	Strong transcription	Fetal Thymus	thymus
40	chr11:65069800-65075200	Weak transcription	HUVEC	blood vessel
41	chr11:65069800-65076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:65070000-65071200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:65070000-65071200	Weak transcription	Spleen	Spleen
44	chr11:65070000-65072000	Weak transcription	Gastric	stomach
45	chr11:65070000-65072000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:65070000-65072000	Weak transcription	Stomach Mucosa	stomach
47	chr11:65070000-65072200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:65070000-65072600	Weak transcription	A549	lung
49	chr11:65070000-65072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:65070000-65072800	Weak transcription	Brain Substantia Nigra	brain

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