Variant report

Variant	rs13115978
Chromosome Location	chr4:148690248-148690249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148649361..148653898-chr4:148687606..148694872,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10006193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10011328	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11733543	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11737828	0.86[ASN][1000 genomes]
rs12508085	0.93[ASN][1000 genomes]
rs17023841	1.00[CHB][hapmap]
rs2174220	0.80[ASN][1000 genomes]
rs4490438	1.00[ASN][1000 genomes]
rs56946313	1.00[ASN][1000 genomes]
rs59160403	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59488354	0.93[ASN][1000 genomes]
rs6828600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7669809	1.00[ASN][1000 genomes]
rs7675072	0.87[ASN][1000 genomes]
rs7680867	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7698166	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
2	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
3	chr4:148679200-148693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:148679200-148693000	Weak transcription	Aorta	Aorta
5	chr4:148679200-148696400	Weak transcription	Lung	lung
6	chr4:148682200-148693000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:148682400-148692400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:148684200-148691800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:148684400-148693600	Weak transcription	Fetal Kidney	kidney
10	chr4:148685200-148692200	Weak transcription	Right Atrium	heart
11	chr4:148685600-148691200	Weak transcription	Psoas Muscle	Psoas
12	chr4:148686000-148693000	Weak transcription	Ovary	ovary
13	chr4:148687000-148692000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:148687200-148696400	Weak transcription	Right Ventricle	heart
15	chr4:148687400-148691800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:148688600-148691400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:148688800-148690400	Enhancers	GM12878-XiMat	blood
18	chr4:148688800-148690400	Enhancers	HMEC	breast
19	chr4:148688800-148690600	Enhancers	NH-A	brain
20	chr4:148688800-148690600	Enhancers	NHDF-Ad	bronchial
21	chr4:148688800-148691000	Enhancers	Osteobl	bone
22	chr4:148688800-148693400	Enhancers	HUVEC	blood vessel
23	chr4:148689000-148693200	Enhancers	NHEK	skin
24	chr4:148689200-148691000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:148689400-148690400	Weak transcription	Fetal Heart	heart
26	chr4:148689400-148690400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:148689400-148691400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:148689400-148691800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:148689400-148692000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:148689400-148692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:148689400-148693000	Weak transcription	Fetal Intestine Large	intestine
32	chr4:148689400-148693000	Weak transcription	Pancreas	Pancrea
33	chr4:148689400-148693000	Weak transcription	Small Intestine	intestine
34	chr4:148689400-148698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:148689600-148690600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:148689600-148690800	Weak transcription	A549	lung
37	chr4:148689600-148691200	Weak transcription	HSMMtube	muscle
38	chr4:148689600-148691600	Weak transcription	NHLF	lung
39	chr4:148689600-148692200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:148689600-148693000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:148689600-148693000	Weak transcription	Gastric	stomach
42	chr4:148689600-148693000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:148689600-148693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:148689600-148693200	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:148689600-148693400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:148689800-148692800	Weak transcription	Stomach Mucosa	stomach
48	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:148690000-148692400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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