Variant report

Variant	rs7448445
Chromosome Location	chr5:178303917-178303918
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	chr5:178285493..178288791-chr5:178303197..178305318,3	MCF-7	breast:
2	chr5:178299499..178302283-chr5:178303072..178304596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1046724	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11249600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740486	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11740503	0.91[ASN][1000 genomes]
rs11744810	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11745435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11748636	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11749871	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11952817	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11955491	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11955549	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11956161	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12516516	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12652691	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12653128	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12654454	0.91[JPT][hapmap]
rs12654612	0.81[ASN][1000 genomes]
rs12654969	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12657931	0.80[ASN][1000 genomes]
rs13166562	0.95[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13171869	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13182467	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13183468	0.81[EUR][1000 genomes]
rs13189231	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13189941	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1496948	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1566105	0.95[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17652441	0.94[EUR][1000 genomes]
rs1826863	0.81[EUR][1000 genomes]
rs1845939	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2047356	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34904538	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35245718	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35974815	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35984063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36077478	1.00[ASN][1000 genomes]
rs6600996	0.82[EUR][1000 genomes]
rs6894647	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6897952	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs732531	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs7445002	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7448421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722159	0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7722441	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][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	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv462574	chr5:178269682-178313078	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv600463	chr5:178269682-178313078	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178288200-178317400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr5:178288800-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:178289600-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:178291200-178317400	ZNF genes & repeats	Liver	Liver
5	chr5:178292600-178305000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:178292600-178305200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr5:178296000-178305000	ZNF genes & repeats	A549	lung
8	chr5:178296000-178305200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr5:178296000-178305400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr5:178296000-178319200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr5:178296200-178315600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr5:178296200-178319200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:178296400-178311200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr5:178296400-178317600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr5:178297200-178315800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr5:178297400-178315600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr5:178297400-178317400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:178297400-178317400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr5:178297400-178317400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:178297600-178305000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:178297600-178305200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr5:178297600-178317400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:178298000-178305200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr5:178298200-178305000	Strong transcription	Psoas Muscle	Psoas
25	chr5:178298400-178305000	ZNF genes & repeats	Brain Substantia Nigra	brain
26	chr5:178298600-178304000	Strong transcription	Fetal Kidney	kidney
27	chr5:178298600-178305000	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr5:178298800-178317800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr5:178299000-178310600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr5:178299000-178317600	ZNF genes & repeats	Fetal Brain Female	brain
31	chr5:178299200-178314000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr5:178299400-178305000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr5:178299400-178310200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:178299400-178317400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:178299600-178305000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:178299600-178305000	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr5:178299600-178309000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr5:178299600-178317400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr5:178299800-178317400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:178299800-178317600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:178300000-178305000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr5:178300000-178305200	ZNF genes & repeats	Fetal Lung	lung
43	chr5:178300200-178305000	ZNF genes & repeats	Dnd41	blood
44	chr5:178300200-178305000	ZNF genes & repeats	NHDF-Ad	bronchial
45	chr5:178300200-178305200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:178300200-178305200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr5:178300200-178305200	ZNF genes & repeats	HepG2	liver
48	chr5:178300200-178311400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr5:178300200-178315600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr5:178300400-178305000	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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