Variant report

Variant	rs7783871
Chromosome Location	chr7:5243075-5243076
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5242203..5244903-chr7:5258318..5259907,2	K562	blood:
2	chr7:5233147..5235826-chr7:5241564..5244275,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34104542	0.91[AFR][1000 genomes]
rs4427074	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6942921	1.00[AMR][1000 genomes]
rs6944508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6955821	1.00[AMR][1000 genomes]
rs6961044	0.81[AFR][1000 genomes]
rs6965109	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71004637	0.97[AFR][1000 genomes]
rs7778031	1.00[AMR][1000 genomes]
rs7778036	1.00[AMR][1000 genomes]
rs7781847	1.00[AMR][1000 genomes]
rs7793825	1.00[AMR][1000 genomes]
rs7806315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
3	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
4	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
7	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5231200-5249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:5231400-5247000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:5231400-5253800	Weak transcription	Fetal Kidney	kidney
5	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
6	chr7:5231600-5252600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:5231800-5245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:5231800-5249800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:5231800-5254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:5231800-5273400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:5232000-5257200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:5232200-5256600	Weak transcription	Small Intestine	intestine
13	chr7:5232400-5247200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:5232400-5256200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:5232600-5254000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:5233000-5247200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:5233000-5255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:5233800-5250400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:5234000-5246200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:5234000-5250400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:5234000-5274800	Weak transcription	Stomach Mucosa	stomach
22	chr7:5235000-5248000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:5236200-5244600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:5237200-5246800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:5237200-5247000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:5237400-5243800	Strong transcription	Primary B cells from cord blood	blood
27	chr7:5237400-5247000	Strong transcription	Fetal Thymus	thymus
28	chr7:5237400-5247800	Strong transcription	Fetal Intestine Small	intestine
29	chr7:5237400-5257400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:5237400-5258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:5237400-5272600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:5237400-5273400	Strong transcription	Dnd41	blood
33	chr7:5237600-5243800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:5237600-5246000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:5237600-5247800	Strong transcription	Fetal Stomach	stomach
36	chr7:5237800-5243600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:5237800-5246800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:5237800-5247200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:5238400-5245000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:5238400-5245600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr7:5238400-5246800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:5238600-5243200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:5238600-5245200	Strong transcription	Hela-S3	cervix
44	chr7:5238600-5246200	Strong transcription	Primary T cells from cord blood	blood
45	chr7:5238600-5246600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:5238600-5246800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:5238600-5246800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5238600-5246800	Strong transcription	Spleen	Spleen
49	chr7:5238600-5247400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:5238800-5245400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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