Variant report

Variant	rs11956397
Chromosome Location	chr5:126756273-126756274
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	chr5:126751710..126754052-chr5:126754566..126757264,2	K562	blood:
2	chr5:126753682..126756531-chr5:126759834..126762249,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11950427	0.81[YRI][hapmap]
rs11957319	0.87[AMR][1000 genomes]
rs12109001	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs17164905	0.87[AMR][1000 genomes]
rs17164925	0.87[AMR][1000 genomes]
rs17164941	1.00[AMR][1000 genomes]
rs17164951	0.87[YRI][hapmap]
rs17164956	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164963	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3851469	0.81[YRI][hapmap]
rs55851028	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56853109	1.00[AMR][1000 genomes]
rs57502023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718502	1.00[AMR][1000 genomes]
rs59739975	0.87[AMR][1000 genomes]
rs60678437	0.87[AMR][1000 genomes]
rs60694077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60931267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61021426	1.00[AMR][1000 genomes]
rs61031224	1.00[AMR][1000 genomes]
rs6595767	0.84[YRI][hapmap]
rs6595769	0.84[YRI][hapmap]
rs6897163	0.81[YRI][hapmap]
rs73331252	0.87[AMR][1000 genomes]
rs73346997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348729	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348755	1.00[AMR][1000 genomes]
rs73348768	0.87[AMR][1000 genomes]
rs73348777	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:126743400-126760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:126746200-126758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:126746400-126760800	Weak transcription	HSMM	muscle
9	chr5:126747000-126759200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:126748400-126758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:126753200-126757400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:126753400-126761000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:126754800-126756800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr5:126755000-126756600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:126755000-126761800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:126755200-126756400	Genic enhancers	Brain Cingulate Gyrus	brain
17	chr5:126755200-126757200	Strong transcription	HSMMtube	muscle
18	chr5:126755400-126756400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:126755400-126774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:126755600-126756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:126755800-126757400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:126755800-126760200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:126755800-126763200	Weak transcription	Brain Angular Gyrus	brain
24	chr5:126756000-126756400	Weak transcription	Spleen	Spleen
25	chr5:126756000-126758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:126756000-126758600	Weak transcription	Brain Anterior Caudate	brain
27	chr5:126756000-126760800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:126756000-126760800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:126756000-126768000	Weak transcription	Fetal Brain Male	brain
30	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:126756200-126756600	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:126756200-126757400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:126756200-126759000	Weak transcription	Brain Substantia Nigra	brain

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