Variant report

Variant	rs547909137
Chromosome Location	chr2:11447979-11447980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11447950-11448197	A549	lung:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000230154	TF binding region
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	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
6	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:11444800-11448000	Enhancers	NHDF-Ad	bronchial
8	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
12	chr2:11445800-11448800	Weak transcription	NHEK	skin
13	chr2:11445800-11449800	Weak transcription	Lung	lung
14	chr2:11446000-11448400	Enhancers	HepG2	liver
15	chr2:11446000-11448800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:11446200-11453200	Weak transcription	K562	blood
17	chr2:11446800-11448200	Enhancers	Psoas Muscle	Psoas
18	chr2:11446800-11449800	Weak transcription	HMEC	breast
19	chr2:11447000-11449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11447000-11449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:11447000-11449800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:11447000-11449800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
28	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
29	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
31	chr2:11447000-11460000	Weak transcription	Ovary	ovary
32	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
33	chr2:11447200-11448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:11447200-11449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:11447200-11449800	Weak transcription	Liver	Liver
36	chr2:11447200-11449800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:11447200-11449800	Weak transcription	Osteobl	bone
38	chr2:11447200-11450200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:11447200-11450200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:11447200-11450800	Weak transcription	A549	lung
41	chr2:11447200-11451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:11447200-11451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
44	chr2:11447200-11454400	Weak transcription	HSMM	muscle
45	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:11447400-11450200	Weak transcription	NHLF	lung
49	chr2:11447400-11450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:11447400-11451400	Weak transcription	Colon Smooth Muscle	Colon

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