Variant report

Variant	rs17132408
Chromosome Location	chr11:73571519-73571520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73570812..73572958-chr11:73578378..73580627,2	K562	blood:
2	chr11:73571127..73573037-chr11:73586377..73589618,4	MCF-7	breast:
3	chr11:73568596..73571925-chr11:73573759..73576003,3	K562	blood:
4	chr11:73570812..73572971-chr11:73578378..73580940,3	K562	blood:
5	chr11:73569512..73571560-chr11:73581546..73584245,2	K562	blood:
6	chr11:73569201..73571625-chr11:73578467..73580588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11235909	1.00[YRI][hapmap]
rs11821823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs11824937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs11829012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284670	0.82[YRI][hapmap]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132368	1.00[YRI][hapmap]
rs17132421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56237750	1.00[EUR][1000 genomes]
rs56340309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59610227	1.00[EUR][1000 genomes]
rs59621450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
4	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
5	chr11:73508800-73575400	Weak transcription	Gastric	stomach
6	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
7	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
8	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
15	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
16	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
19	chr11:73550000-73574000	Weak transcription	A549	lung
20	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
21	chr11:73550400-73574200	Weak transcription	HSMM	muscle
22	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:73550400-73577200	Weak transcription	NH-A	brain
24	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73554200-73574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:73554800-73575200	Weak transcription	Ovary	ovary
27	chr11:73555000-73577200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:73555600-73571600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:73555600-73573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73556800-73574400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:73556800-73575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:73557000-73577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:73557800-73572400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:73557800-73573800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:73558000-73574000	Weak transcription	Fetal Brain Female	brain
37	chr11:73560800-73575000	Weak transcription	Lung	lung
38	chr11:73561200-73572400	Weak transcription	Thymus	Thymus
39	chr11:73561200-73579800	Weak transcription	Fetal Lung	lung
40	chr11:73562400-73572200	Weak transcription	Fetal Intestine Small	intestine
41	chr11:73563000-73574200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:73566000-73572600	Weak transcription	Osteobl	bone
44	chr11:73566000-73577600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:73566200-73573600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:73566400-73571600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:73566400-73572400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:73566400-73574600	Weak transcription	Fetal Kidney	kidney
49	chr11:73566400-73577200	Weak transcription	HMEC	breast
50	chr11:73567600-73574200	Weak transcription	Brain Anterior Caudate	brain

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