Variant report

Variant	rs1315005
Chromosome Location	chr4:57858237-57858238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57845155..57847188-chr4:57856587..57858696,2	MCF-7	breast:
2	chr4:57856196..57858263-chr4:57863410..57864964,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1107675	0.83[ASN][1000 genomes]
rs11727683	0.84[ASN][1000 genomes]
rs11735158	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11932673	0.82[ASN][1000 genomes]
rs1277271	0.89[ASN][1000 genomes]
rs1277287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277288	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121176	0.80[ASN][1000 genomes]
rs1315006	0.86[EUR][1000 genomes]
rs1625691	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17081937	0.90[ASN][1000 genomes]
rs17087307	0.82[ASN][1000 genomes]
rs17087317	0.82[ASN][1000 genomes]
rs1713994	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713997	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1718839	0.88[ASN][1000 genomes]
rs1718882	0.96[EUR][1000 genomes]
rs1976780	0.82[ASN][1000 genomes]
rs34576794	0.87[ASN][1000 genomes]
rs34659774	0.82[ASN][1000 genomes]
rs3733306	0.85[ASN][1000 genomes]
rs41552420	0.82[ASN][1000 genomes]
rs41556916	0.84[ASN][1000 genomes]
rs56182208	0.84[ASN][1000 genomes]
rs56285301	0.84[ASN][1000 genomes]
rs57469512	0.84[ASN][1000 genomes]
rs6816457	0.89[ASN][1000 genomes]
rs73242624	0.85[EUR][1000 genomes]
rs73242631	0.82[ASN][1000 genomes]
rs781665	0.88[ASN][1000 genomes]
rs781666	0.88[ASN][1000 genomes]
rs781668	0.88[ASN][1000 genomes]
rs9942208	0.82[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:57847000-57861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:57848000-57861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:57848400-57860800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:57848400-57875200	Weak transcription	Stomach Mucosa	stomach
10	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:57849200-57869000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:57849200-57886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:57849600-57884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:57849800-57861400	Weak transcription	Psoas Muscle	Psoas
16	chr4:57850400-57858600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:57850600-57870200	Strong transcription	GM12878-XiMat	blood
18	chr4:57850600-57899400	Strong transcription	Fetal Thymus	thymus
19	chr4:57850800-57859400	Strong transcription	Fetal Stomach	stomach
20	chr4:57850800-57899400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:57851000-57860600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:57851000-57861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:57851000-57899200	Strong transcription	Primary T cells from cord blood	blood
24	chr4:57851000-57899400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:57851200-57858400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:57851200-57859200	Strong transcription	Fetal Muscle Leg	muscle
27	chr4:57851200-57897200	Strong transcription	Fetal Intestine Large	intestine
28	chr4:57851400-57894800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:57851600-57859400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:57851600-57859800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr4:57851600-57861400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:57851600-57861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:57851600-57864400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:57851600-57899400	Strong transcription	Placenta	Placenta
35	chr4:57851800-57858600	Strong transcription	Dnd41	blood
36	chr4:57851800-57859200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:57851800-57859800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr4:57851800-57861200	Strong transcription	HUVEC	blood vessel
39	chr4:57851800-57861400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:57851800-57861400	Strong transcription	Adipose Nuclei	Adipose
41	chr4:57851800-57863400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr4:57851800-57868600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:57851800-57899400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:57851800-57899400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:57851800-57899400	Strong transcription	Liver	Liver
46	chr4:57851800-57899600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:57852000-57859800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:57852000-57892200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:57852000-57894800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:57852000-57898200	Strong transcription	Primary T cells fromperipheralblood	blood

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