Variant report

Variant	rs60924468
Chromosome Location	chr11:75873192-75873193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75864528..75867031-chr11:75871798..75873454,2	K562	blood:
2	chr11:75872410..75875308-chr11:75879381..75883436,3	K562	blood:
3	chr11:75867883..75870652-chr11:75871506..75874252,2	MCF-7	breast:
4	chr11:75679088..75681419-chr11:75870768..75873220,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1815906	1.00[EUR][1000 genomes]
rs57521826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59983429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60929415	1.00[AMR][1000 genomes]
rs73500047	1.00[EUR][1000 genomes]
rs7933105	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1051472	chr11:75851880-75922608	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1037940	chr11:75855316-75909619	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897927	chr11:75866999-75908083	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045109	chr11:75869435-75904626	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1038104	chr11:75869435-75907332	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1041667	chr11:75869435-75908910	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1037670	chr11:75869435-75956348	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1035371	chr11:75869435-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1043964	chr11:75869737-75902208	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1044348	chr11:75869737-75904626	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1053291	chr11:75869737-75908910	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1046769	chr11:75869737-75964374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1046036	chr11:75870189-75912895	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1042961	chr11:75870189-75922608	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv541088	chr11:75870189-75922608	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv1040118	chr11:75870189-75995089	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	nsv1053580	chr11:75871240-75904626	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1045854	chr11:75871240-75908910	Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1047833	chr11:75871240-75909619	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv1044894	chr11:75871240-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv1053129	chr11:75871240-75997663	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv1040591	chr11:75872758-75907332	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1037453	chr11:75872758-75908910	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1044943	chr11:75872758-75922912	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75865000-75876000	Weak transcription	Spleen	Spleen
2	chr11:75867800-75875200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:75869200-75874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:75870400-75874400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:75870400-75874600	Enhancers	Fetal Muscle Leg	muscle
6	chr11:75870600-75873800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:75871000-75873600	Enhancers	Fetal Brain Male	brain
8	chr11:75871400-75873400	Enhancers	Fetal Lung	lung
9	chr11:75871600-75873800	Enhancers	Fetal Heart	heart
10	chr11:75871800-75874400	Enhancers	Placenta	Placenta
11	chr11:75872000-75873800	Enhancers	Left Ventricle	heart
12	chr11:75872200-75873200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:75872400-75873200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:75872400-75873800	Enhancers	Lung	lung
15	chr11:75872400-75874000	Enhancers	Fetal Stomach	stomach
16	chr11:75872600-75873200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:75872600-75873400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:75872600-75874000	Enhancers	Fetal Intestine Large	intestine
19	chr11:75872600-75874800	Enhancers	Adipose Nuclei	Adipose
20	chr11:75872800-75873200	Enhancers	Ovary	ovary
21	chr11:75872800-75873400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:75872800-75873600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:75872800-75873600	Enhancers	Right Atrium	heart
24	chr11:75872800-75873600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr11:75872800-75873800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:75872800-75873800	Enhancers	Fetal Intestine Small	intestine
27	chr11:75872800-75874600	Enhancers	K562	blood
28	chr11:75873000-75873200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75873000-75873400	Enhancers	Brain Germinal Matrix	brain
30	chr11:75873000-75873400	Enhancers	Fetal Brain Female	brain
31	chr11:75873000-75873600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:75873000-75873600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr11:75873000-75873800	Enhancers	Pancreas	Pancrea
34	chr11:75873000-75874000	Enhancers	Right Ventricle	heart
35	chr11:75873000-75874600	Bivalent Enhancer	HepG2	liver

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