Variant report

Variant	rs7533978
Chromosome Location	chr1:120512303-120512304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120511011..120512571-chr1:120512648..120514859,2	MCF-7	breast:
2	chr1:120506490..120508816-chr1:120511166..120513113,2	K562	blood:
3	chr1:120489170..120492877-chr1:120510169..120513121,3	K562	blood:
4	chr1:120505566..120508296-chr1:120511053..120512742,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10399885	1.00[ASW][hapmap];0.90[YRI][hapmap]
rs10923928	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12071853	0.80[YRI][hapmap]
rs12083843	0.87[ASW][hapmap];0.85[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs59700165	0.95[AFR][1000 genomes]
rs73004249	0.90[AFR][1000 genomes]
rs7523642	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120490000-120512400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr1:120490000-120514400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:120490000-120517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:120490200-120512600	Strong transcription	Primary T cells from cord blood	blood
6	chr1:120490200-120512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:120490200-120521000	Strong transcription	Primary B cells from cord blood	blood
8	chr1:120490400-120512600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:120490800-120515000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
11	chr1:120499400-120514600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:120500200-120515400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:120504600-120515000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:120504600-120517600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:120504800-120514000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:120505200-120512600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr1:120505200-120515200	Strong transcription	Dnd41	blood
18	chr1:120505400-120512600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:120505400-120514600	Strong transcription	Thymus	Thymus
20	chr1:120505400-120514800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:120505600-120514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:120505600-120514600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr1:120506200-120512600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:120507200-120514200	Strong transcription	Fetal Kidney	kidney
25	chr1:120508000-120512400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:120508000-120514400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:120508000-120515800	Strong transcription	Fetal Stomach	stomach
28	chr1:120508000-120517800	Weak transcription	Psoas Muscle	Psoas
29	chr1:120508200-120512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:120508200-120514600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:120508400-120515600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:120508400-120518600	Weak transcription	Fetal Brain Female	brain
33	chr1:120508600-120529800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:120508800-120517800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:120508800-120524600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:120509000-120514000	Strong transcription	NH-A	brain
37	chr1:120509000-120516000	Weak transcription	Small Intestine	intestine
38	chr1:120509000-120533000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:120509200-120514400	Strong transcription	NHLF	lung
40	chr1:120509200-120515000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:120509400-120514600	Strong transcription	Fetal Lung	lung
42	chr1:120509600-120514600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:120509600-120515400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:120509600-120520600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:120509600-120520600	Weak transcription	Right Ventricle	heart
46	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:120510200-120512400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:120510200-120514000	Strong transcription	Pancreas	Pancrea
49	chr1:120510200-120517600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:120510200-120519800	Weak transcription	Fetal Heart	heart

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