Variant report

Variant	rs60815517
Chromosome Location	chr4:174105556-174105557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174094706..174097585-chr4:174104711..174106711,3	MCF-7	breast:
2	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
3	chr4:174103126..174105789-chr4:174112551..174114903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109586	Chromatin interaction
ENSG00000245213	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001613	0.87[EUR][1000 genomes]
rs1008052	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10213525	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11731263	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17059221	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2332655	0.86[EUR][1000 genomes]
rs28377337	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28451250	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28477861	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28663544	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4535319	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6817013	0.84[ASN][1000 genomes]
rs72711045	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9683937	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9685946	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9999740	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:174093600-174109800	Weak transcription	Gastric	stomach
5	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
7	chr4:174098000-174106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:174098600-174106200	Weak transcription	Fetal Thymus	thymus
9	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:174099000-174106200	Weak transcription	Dnd41	blood
11	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:174099800-174106000	Weak transcription	K562	blood
14	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:174101000-174106600	Weak transcription	Primary B cells from cord blood	blood
16	chr4:174101200-174106000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:174102000-174106400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:174102600-174106600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:174103200-174106200	Weak transcription	Primary T cells from cord blood	blood
20	chr4:174103200-174106400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:174103200-174106600	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:174103400-174106400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:174103400-174106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:174103600-174109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:174103800-174106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:174103800-174106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:174104000-174106000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:174104000-174106000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:174104000-174106200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:174104000-174108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:174104000-174109400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:174104000-174109400	Weak transcription	Pancreas	Pancrea
33	chr4:174104000-174109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:174104000-174112400	Weak transcription	Aorta	Aorta
35	chr4:174104000-174112400	Weak transcription	Brain Anterior Caudate	brain
36	chr4:174104000-174112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:174104000-174157200	Weak transcription	Ovary	ovary
38	chr4:174104200-174106200	Weak transcription	HUVEC	blood vessel
39	chr4:174104200-174106400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:174104200-174108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:174104200-174112200	Weak transcription	Hela-S3	cervix
42	chr4:174104400-174105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:174104400-174106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:174104400-174107000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:174104400-174108600	Weak transcription	Osteobl	bone
46	chr4:174104600-174106000	Weak transcription	A549	lung
47	chr4:174104600-174106200	Weak transcription	Stomach Mucosa	stomach
48	chr4:174104600-174106600	Weak transcription	HSMM	muscle
49	chr4:174104600-174107400	Weak transcription	NHDF-Ad	bronchial
50	chr4:174104600-174108600	Weak transcription	NHEK	skin

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