Variant report

Variant	rs506033
Chromosome Location	chr3:50576722-50576723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50566678..50573015-chr3:50574866..50578180,7	K562	blood:
2	chr3:50574744..50576810-chr3:50578227..50580439,2	K562	blood:
3	chr3:50574960..50577068-chr3:50582421..50584590,2	K562	blood:
4	chr3:50564501..50566092-chr3:50575349..50577081,2	K562	blood:
5	chr3:50383950..50386252-chr3:50576289..50578931,2	K562	blood:
6	chr3:50564004..50566092-chr3:50575349..50577105,3	K562	blood:

Variant related genes	Relation type
ENSG00000004838	Chromatin interaction
ENSG00000114388	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13319333	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28372350	0.83[AMR][1000 genomes]
rs34820144	1.00[AMR][1000 genomes]
rs380565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs388096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs388345	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399347	1.00[AMR][1000 genomes]
rs453290	1.00[AMR][1000 genomes]
rs4688711	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs475031	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809261	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs693993	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs900741	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9816631	0.85[AFR][1000 genomes]
rs9836186	0.85[YRI][hapmap]
rs9873717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50574400-50577200	Weak transcription	Esophagus	oesophagus
2	chr3:50574800-50577600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:50575400-50577000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:50575400-50577400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:50575400-50577600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:50576000-50577000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:50576000-50577000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:50576000-50577400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:50576000-50577600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:50576000-50577600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:50576000-50577600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50576000-50577600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:50576000-50577600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:50576000-50577600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:50576000-50577800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:50576200-50577400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50576200-50577600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:50576400-50577600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:50576400-50578600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:50576600-50576800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:50576600-50576800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr3:50576600-50577000	Flanking Active TSS	K562	blood
23	chr3:50576600-50577200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:50576600-50577400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr3:50576600-50578000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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