Variant report

Variant	rs7994728
Chromosome Location	chr13:30476551-30476552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30475471..30478069-chr13:30488763..30491308,2	MCF-7	breast:
2	chr13:30421712..30424673-chr13:30474414..30478013,4	MCF-7	breast:
3	chr13:30421587..30425867-chr13:30475246..30480026,6	MCF-7	breast:
4	chr13:30475291..30479868-chr13:30496674..30499474,5	MCF-7	breast:
5	chr13:30474897..30477785-chr13:30478687..30482625,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10444626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12865275	0.85[EUR][1000 genomes]
rs9314987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9506237	0.85[EUR][1000 genomes]
rs9506240	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9506241	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508587	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508588	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers 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
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30475200-30476600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr13:30475200-30476600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:30475400-30476600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr13:30475400-30480600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:30475600-30476600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:30475600-30476600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:30475600-30477200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:30475600-30477200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:30475600-30478600	Enhancers	HSMMtube	muscle
10	chr13:30475800-30476600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr13:30475800-30476600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:30475800-30476600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:30475800-30476600	Enhancers	Fetal Intestine Small	intestine
14	chr13:30475800-30476600	Enhancers	Fetal Lung	lung
15	chr13:30475800-30476600	Enhancers	NH-A	brain
16	chr13:30475800-30476600	Enhancers	Osteobl	bone
17	chr13:30475800-30477000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30475800-30477000	Enhancers	HMEC	breast
19	chr13:30475800-30477000	Flanking Active TSS	NHEK	skin
20	chr13:30475800-30477600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:30475800-30477600	Enhancers	HSMM	muscle
22	chr13:30475800-30478000	Enhancers	Colonic Mucosa	Colon
23	chr13:30475800-30478600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr13:30476000-30476600	Enhancers	NHDF-Ad	bronchial
25	chr13:30476000-30476800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr13:30476000-30476800	Enhancers	Fetal Kidney	kidney
27	chr13:30476000-30477000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:30476000-30477000	Enhancers	Stomach Mucosa	stomach
29	chr13:30476000-30477200	Enhancers	NHLF	lung
30	chr13:30476000-30477400	Enhancers	Small Intestine	intestine
31	chr13:30476000-30477600	Enhancers	Placenta	Placenta
32	chr13:30476200-30476600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr13:30476200-30476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:30476200-30477000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:30476200-30477000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:30476200-30477000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:30476200-30477000	Enhancers	Brain Substantia Nigra	brain
38	chr13:30476200-30477000	Flanking Active TSS	Hela-S3	cervix
39	chr13:30476200-30477200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:30476200-30477200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:30476200-30477200	Enhancers	Brain Cingulate Gyrus	brain
42	chr13:30476200-30477600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:30476400-30476600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:30476400-30476600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:30476400-30476800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr13:30476400-30476800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr13:30476400-30476800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr13:30476400-30476800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:30476400-30476800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:30476400-30476800	Flanking Active TSS	Adipose Nuclei	Adipose

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