Variant report

Variant	rs538243696
Chromosome Location	chr3:120274838-120274839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120270757..120272549-chr3:120274263..120277082,2	K562	blood:
2	chr3:120143073..120145920-chr3:120273306..120275738,2	MCF-7	breast:
3	chr3:120269666..120272257-chr3:120274263..120276894,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv3970	chr3:120235247-120280294	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3404272	chr3:120274212-120294960	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120271400-120276200	Weak transcription	Right Ventricle	heart
2	chr3:120271400-120277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:120272000-120277000	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:120273000-120277000	Enhancers	Colon Smooth Muscle	Colon
5	chr3:120273200-120276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:120273400-120275200	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:120273400-120275200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:120273400-120275200	Enhancers	NHDF-Ad	bronchial
9	chr3:120273400-120275800	Enhancers	Fetal Heart	heart
10	chr3:120273400-120277200	Enhancers	Ovary	ovary
11	chr3:120273600-120275200	Enhancers	Liver	Liver
12	chr3:120273600-120275800	Enhancers	Adipose Nuclei	Adipose
13	chr3:120273600-120276400	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:120273800-120275000	Enhancers	Right Atrium	heart
15	chr3:120273800-120275200	Enhancers	Osteobl	bone
16	chr3:120273800-120275600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:120273800-120275800	Enhancers	Pancreas	Pancrea
18	chr3:120273800-120277400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:120273800-120277400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:120274000-120277200	Weak transcription	Aorta	Aorta
21	chr3:120274200-120275000	Enhancers	Gastric	stomach
22	chr3:120274200-120277200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:120274400-120275000	Enhancers	Left Ventricle	heart
24	chr3:120274400-120275200	Enhancers	NHLF	lung
25	chr3:120274400-120275400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:120274400-120275400	Enhancers	Stomach Mucosa	stomach
27	chr3:120274600-120275200	Enhancers	Fetal Intestine Large	intestine
28	chr3:120274600-120275200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:120274600-120275400	Enhancers	Lung	lung
30	chr3:120274600-120275600	Enhancers	HepG2	liver
31	chr3:120274600-120277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:120274600-120277000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:120274600-120277600	Enhancers	Fetal Brain Male	brain
34	chr3:120274800-120275000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:120274800-120275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:120274800-120275000	Weak transcription	Fetal Stomach	stomach
37	chr3:120274800-120275400	Enhancers	Fetal Muscle Leg	muscle
38	chr3:120274800-120275400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr3:120274800-120275600	Enhancers	Duodenum Mucosa	Duodenum
40	chr3:120274800-120275600	Enhancers	Fetal Brain Female	brain
41	chr3:120274800-120275600	Enhancers	Psoas Muscle	Psoas

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