Variant report

Variant	rs2301718
Chromosome Location	chr4:106009763-106009764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:105890996..105893902-chr4:106008986..106011522,2	MCF-7	breast:
2	chr4:105988866..105991432-chr4:106008084..106009967,2	MCF-7	breast:
3	chr4:106008287..106010718-chr4:106060873..106063570,2	MCF-7	breast:
4	chr4:105886480..105889380-chr4:106007215..106010174,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248242	Chromatin interaction
ENSG00000251259	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12509636	0.83[GIH][hapmap]

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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830024	chr4:105884350-106037816	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr4:106008400-106010200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:106008400-106011200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:106008400-106011200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:106008800-106010200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:106008800-106010200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr4:106008800-106010400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:106009000-106010000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:106009200-106009800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:106009200-106009800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:106009200-106009800	Active TSS	Fetal Lung	lung
11	chr4:106009200-106009800	Active TSS	Ovary	ovary
12	chr4:106009200-106009800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:106009200-106009800	Flanking Active TSS	NHEK	skin
14	chr4:106009200-106010000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:106009200-106010000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:106009200-106010000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:106009200-106010000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:106009200-106010000	Active TSS	Right Atrium	heart
19	chr4:106009200-106010200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:106009200-106010200	Flanking Active TSS	NH-A	brain
21	chr4:106009400-106009800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:106009400-106009800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:106009400-106009800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:106009400-106009800	Active TSS	Brain Cingulate Gyrus	brain
25	chr4:106009400-106009800	Active TSS	Brain Germinal Matrix	brain
26	chr4:106009400-106009800	Enhancers	Fetal Brain Female	brain
27	chr4:106009400-106009800	Active TSS	Fetal Kidney	kidney
28	chr4:106009400-106009800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:106009400-106009800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:106009400-106009800	Flanking Active TSS	HMEC	breast
31	chr4:106009400-106009800	Active TSS	NHDF-Ad	bronchial
32	chr4:106009400-106010000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:106009400-106010000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:106009400-106010000	Flanking Active TSS	HSMM	muscle
35	chr4:106009400-106010200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:106009600-106009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:106009600-106009800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:106009600-106009800	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:106009600-106009800	Enhancers	Fetal Brain Male	brain
40	chr4:106009600-106009800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:106009600-106010000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr4:106009600-106010000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:106009600-106010000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:106009600-106010000	Enhancers	Brain Anterior Caudate	brain
45	chr4:106009600-106010000	Enhancers	Colon Smooth Muscle	Colon
46	chr4:106009600-106010000	Flanking Active TSS	HSMMtube	muscle
47	chr4:106009600-106010000	Flanking Active TSS	NHLF	lung
48	chr4:106009600-106010000	Flanking Active TSS	Osteobl	bone
49	chr4:106009600-106010200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:106009600-106010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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