Variant report

Variant	rs60938249
Chromosome Location	chr4:15719025-15719026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15655671..15658131-chr4:15716646..15719360,2	MCF-7	breast:
2	chr4:15656249..15658518-chr4:15717903..15721715,3	K562	blood:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1135879	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16892304	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2069000	0.86[EUR][1000 genomes]
rs2302468	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59620776	0.86[EUR][1000 genomes]
rs60094906	0.86[EUR][1000 genomes]
rs61336856	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73115630	0.86[EUR][1000 genomes]
rs73121376	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers 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	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15705000-15735200	Weak transcription	Lung	lung
3	chr4:15705200-15720400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:15705200-15720600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:15705200-15731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:15705400-15727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:15705800-15719400	Weak transcription	Spleen	Spleen
8	chr4:15706000-15727800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
10	chr4:15708800-15720200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:15708800-15739400	Weak transcription	Ovary	ovary
12	chr4:15709200-15719600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:15709400-15731800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:15710000-15723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:15711400-15720200	Weak transcription	HepG2	liver
16	chr4:15711800-15719400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:15714600-15720200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:15715400-15719200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:15715800-15720200	Enhancers	Fetal Stomach	stomach
20	chr4:15715800-15721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:15716000-15720000	Enhancers	NHLF	lung
22	chr4:15716200-15723400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:15716400-15723000	Weak transcription	A549	lung
24	chr4:15716600-15719200	Weak transcription	Fetal Kidney	kidney
25	chr4:15716600-15719800	Enhancers	Osteobl	bone
26	chr4:15716600-15725200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:15716800-15720600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:15716800-15727600	Weak transcription	Brain Anterior Caudate	brain
29	chr4:15717200-15719400	Weak transcription	Fetal Lung	lung
30	chr4:15717200-15720200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:15717600-15721000	Enhancers	HSMM	muscle
32	chr4:15717600-15721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:15717800-15719800	Enhancers	HSMMtube	muscle
34	chr4:15718000-15719600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:15718000-15720000	Enhancers	NH-A	brain
36	chr4:15718000-15721200	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:15718200-15719200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:15718200-15719600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:15718200-15719600	Enhancers	Adipose Nuclei	Adipose
40	chr4:15718200-15725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:15718200-15725600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:15718400-15719400	Enhancers	NHDF-Ad	bronchial
43	chr4:15718400-15719800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:15718400-15720600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:15718400-15720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:15718600-15719200	Enhancers	Brain Germinal Matrix	brain
47	chr4:15718600-15720200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:15718600-15722200	Weak transcription	Placenta	Placenta
49	chr4:15718800-15719200	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:15718800-15719400	Enhancers	Rectal Smooth Muscle	rectum

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