Variant report

Variant	rs564024874
Chromosome Location	chr2:11447464-11447465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11443856..11445730-chr2:11445772..11448144,2	K562	blood:
2	chr2:11435287..11437143-chr2:11445238..11447670,2	K562	blood:
3	chr2:11446328..11449302-chr2:11482839..11485533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv962059	chr2:11447027-11450757	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
3	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
7	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11444600-11447800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:11444800-11447600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:11444800-11448000	Enhancers	NHDF-Ad	bronchial
11	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
15	chr2:11445600-11447600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:11445800-11448800	Weak transcription	NHEK	skin
17	chr2:11445800-11449800	Weak transcription	Lung	lung
18	chr2:11446000-11448400	Enhancers	HepG2	liver
19	chr2:11446000-11448800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:11446200-11453200	Weak transcription	K562	blood
21	chr2:11446800-11448200	Enhancers	Psoas Muscle	Psoas
22	chr2:11446800-11449800	Weak transcription	HMEC	breast
23	chr2:11447000-11449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:11447000-11449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:11447000-11449800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:11447000-11449800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
32	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
33	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
35	chr2:11447000-11460000	Weak transcription	Ovary	ovary
36	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
37	chr2:11447200-11448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:11447200-11449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:11447200-11449800	Weak transcription	Liver	Liver
40	chr2:11447200-11449800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:11447200-11449800	Weak transcription	Osteobl	bone
42	chr2:11447200-11450200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:11447200-11450200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:11447200-11450800	Weak transcription	A549	lung
45	chr2:11447200-11451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:11447200-11451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
48	chr2:11447200-11454400	Weak transcription	HSMM	muscle
49	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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