Variant report

Variant	rs10068622
Chromosome Location	chr5:112629279-112629280
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	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10055089	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10056847	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10900683	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241198	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11741333	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744824	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956139	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13182478	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13182700	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1838204	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1838205	0.94[ASN][1000 genomes]
rs1873927	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34512273	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4108701	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4108702	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6594699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7729163	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs971372	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112626800-112631400	Active TSS	Ovary	ovary
2	chr5:112627200-112631200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112627400-112631000	Active TSS	Psoas Muscle	Psoas
4	chr5:112628200-112629400	Active TSS	Placenta	Placenta
5	chr5:112628200-112629600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr5:112628200-112629600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr5:112628200-112629800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:112628200-112630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:112628200-112630800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:112628200-112631000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112628200-112631000	Active TSS	Brain Hippocampus Middle	brain
12	chr5:112628200-112631000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:112628200-112631000	Active TSS	Brain Substantia Nigra	brain
14	chr5:112628200-112631000	Active TSS	Right Atrium	heart
15	chr5:112628200-112631000	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:112628200-112631200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:112628200-112631200	Active TSS	NHDF-Ad	bronchial
18	chr5:112628400-112629400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:112628400-112629400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr5:112628400-112629800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112628400-112629800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:112628400-112631000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:112628400-112631000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112628400-112631000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:112628400-112631200	Active TSS	Fetal Muscle Trunk	muscle
26	chr5:112628400-112631200	Active TSS	Left Ventricle	heart
27	chr5:112628600-112629400	Active TSS	Fetal Brain Male	brain
28	chr5:112628600-112629400	Bivalent/Poised TSS	NHLF	lung
29	chr5:112628600-112629600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112628600-112629600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:112628600-112629600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr5:112628600-112629600	Flanking Active TSS	NH-A	brain
33	chr5:112628600-112629800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr5:112628600-112630200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:112628600-112630600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:112628600-112630600	Active TSS	Lung	lung
37	chr5:112628600-112630800	Active TSS	Brain Angular Gyrus	brain
38	chr5:112628600-112630800	Active TSS	Esophagus	oesophagus
39	chr5:112628600-112630800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr5:112628600-112631000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr5:112628600-112631000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:112628600-112631000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:112628600-112631200	Active TSS	Rectal Smooth Muscle	rectum
44	chr5:112628600-112631400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:112628800-112629400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:112628800-112629600	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:112628800-112629600	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr5:112628800-112629600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112628800-112629600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
50	chr5:112628800-112629600	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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