Variant report

Variant	rs67261129
Chromosome Location	chr2:40675319-40675320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40673684..40676134-chr2:40676375..40679373,3	MCF-7	breast:
2	chr2:40636692..40638934-chr2:40675253..40677147,2	K562	blood:

Variant related genes	Relation type
ENSG00000183023	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17026033	0.84[ASN][1000 genomes]
rs17026039	0.84[ASN][1000 genomes]
rs4952624	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66521967	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs66761062	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72613872	0.82[AMR][1000 genomes];0.87[ASN][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney
2	chr2:40662600-40677200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:40663600-40677000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:40663600-40677000	Weak transcription	Aorta	Aorta
5	chr2:40663800-40677600	Weak transcription	HSMMtube	muscle
6	chr2:40666600-40676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40666600-40676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:40666600-40677200	Weak transcription	Right Ventricle	heart
9	chr2:40666800-40675400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40667000-40676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:40667000-40676400	Weak transcription	HMEC	breast
12	chr2:40668200-40675600	Weak transcription	Osteobl	bone
13	chr2:40668400-40676600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40668600-40677200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:40669600-40676800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:40671400-40675400	Weak transcription	Fetal Brain Female	brain
17	chr2:40672000-40675600	Genic enhancers	Dnd41	blood
18	chr2:40672200-40678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:40672600-40675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:40672600-40676800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:40672800-40675600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40672800-40676800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:40673400-40677200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:40673600-40675600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:40673600-40675600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:40673600-40677000	Weak transcription	Fetal Stomach	stomach
27	chr2:40673600-40677200	Weak transcription	Placenta	Placenta
28	chr2:40673800-40676400	Weak transcription	Brain Germinal Matrix	brain
29	chr2:40673800-40676400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:40673800-40677000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:40673800-40677000	Weak transcription	Primary B cells from cord blood	blood
32	chr2:40673800-40677200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:40674000-40675600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:40674000-40677200	Weak transcription	Left Ventricle	heart
35	chr2:40674000-40679600	Enhancers	Fetal Heart	heart
36	chr2:40674600-40675400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:40674600-40675600	Weak transcription	HSMM	muscle
38	chr2:40674600-40677000	Weak transcription	Right Atrium	heart
39	chr2:40674800-40675800	Enhancers	NHLF	lung
40	chr2:40675000-40675400	Enhancers	Brain Angular Gyrus	brain
41	chr2:40675200-40675400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:40675200-40675600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:40675200-40675800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr2:40675200-40676200	Enhancers	Fetal Brain Male	brain
45	chr2:40675200-40676200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:40675200-40676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:40675200-40677000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:40675200-40677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:40675200-40677000	Enhancers	NHDF-Ad	bronchial
50	chr2:40675200-40680000	Active TSS	Brain Anterior Caudate	brain

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