Variant report

Variant	rs2407420
Chromosome Location	chr4:152119581-152119582
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152116628..152118796-chr4:152119298..152121521,2	MCF-7	breast:
2	chr4:152118284..152119881-chr4:152128835..152131528,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12504166	0.84[EUR][1000 genomes]
rs12511209	0.84[EUR][1000 genomes]
rs17633600	0.84[EUR][1000 genomes]
rs59944801	0.87[EUR][1000 genomes]
rs60212468	0.84[EUR][1000 genomes]
rs60761330	0.84[EUR][1000 genomes]

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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152096800-152120600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:152097200-152123600	Weak transcription	Pancreas	Pancrea
3	chr4:152097200-152136600	Weak transcription	Colonic Mucosa	Colon
4	chr4:152097400-152123600	Weak transcription	Aorta	Aorta
5	chr4:152097600-152128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:152097800-152120000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:152098400-152147200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152107200-152120000	Weak transcription	HepG2	liver
9	chr4:152112200-152120000	Weak transcription	Right Ventricle	heart
10	chr4:152112400-152120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:152112800-152120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:152113400-152124400	Weak transcription	Fetal Intestine Small	intestine
13	chr4:152115000-152124000	Weak transcription	Psoas Muscle	Psoas
14	chr4:152115600-152119800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:152116600-152120400	Weak transcription	Ovary	ovary
16	chr4:152116600-152120600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:152117200-152120400	Enhancers	Brain Angular Gyrus	brain
18	chr4:152117400-152120400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:152117600-152119600	Weak transcription	Fetal Lung	lung
20	chr4:152117600-152119800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:152117600-152120000	Weak transcription	Fetal Stomach	stomach
22	chr4:152117600-152120600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:152117600-152120600	Weak transcription	Lung	lung
24	chr4:152117600-152121400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:152117600-152123200	Weak transcription	Placenta	Placenta
26	chr4:152117600-152123600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:152117600-152124000	Weak transcription	NH-A	brain
28	chr4:152117600-152124200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:152117600-152124400	Weak transcription	A549	lung
30	chr4:152117600-152148800	Weak transcription	Esophagus	oesophagus
31	chr4:152117800-152120000	Weak transcription	Fetal Heart	heart
32	chr4:152118400-152119600	Enhancers	Brain Cingulate Gyrus	brain
33	chr4:152118400-152120600	Weak transcription	Left Ventricle	heart
34	chr4:152118400-152120600	Weak transcription	Small Intestine	intestine
35	chr4:152118600-152120400	Enhancers	Adipose Nuclei	Adipose
36	chr4:152118600-152120600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:152118600-152124200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:152118600-152124200	Weak transcription	Stomach Mucosa	stomach
39	chr4:152118800-152119600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:152118800-152119800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:152118800-152120000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:152118800-152120000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:152118800-152120200	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:152118800-152120400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:152118800-152120400	Weak transcription	Brain Anterior Caudate	brain
46	chr4:152118800-152120400	Weak transcription	Osteobl	bone
47	chr4:152118800-152120600	Weak transcription	Right Atrium	heart
48	chr4:152118800-152123400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:152118800-152123400	Weak transcription	HSMM	muscle
50	chr4:152118800-152146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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