Variant report

Variant	rs10270572
Chromosome Location	chr7:138577911-138577912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138577901..138580476-chr7:138582807..138585174,2	K562	blood:
2	chr7:138577500..138579765-chr7:138582375..138585755,3	MCF-7	breast:
3	chr7:138575862..138580476-chr7:138581727..138586290,4	K562	blood:
4	chr7:138577888..138578693-chr9:78605923..78606872,2	MCF-7	breast:
5	chr7:138573612..138578599-chr7:138661301..138667603,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122778	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10262284	0.83[AMR][1000 genomes]
rs6467816	0.97[ASN][1000 genomes]
rs6944822	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs7783228	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7792926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1801348	chr7:138571311-138581979	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10270572	NDUFB2	cis	parietal	SCAN
rs10270572	WDR91	cis	parietal	SCAN
rs10270572	TTC26	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
3	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
5	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:138562000-138598200	Weak transcription	HMEC	breast
12	chr7:138562600-138580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:138566000-138583600	Weak transcription	Lung	lung
14	chr7:138566200-138578800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:138566200-138588200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:138566200-138606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:138566400-138578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:138566400-138609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138566600-138592000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:138570600-138592600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:138571200-138592600	Weak transcription	Brain Anterior Caudate	brain
22	chr7:138571600-138583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:138571600-138592000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:138572000-138586600	Weak transcription	Dnd41	blood
25	chr7:138573400-138596800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:138573600-138601000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:138573800-138606600	Weak transcription	Gastric	stomach
28	chr7:138574200-138582600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:138574600-138604400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:138574800-138582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:138575600-138597600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:138575600-138602200	Weak transcription	Fetal Intestine Large	intestine
33	chr7:138575800-138578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:138575800-138579000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:138575800-138580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:138575800-138580200	Weak transcription	Fetal Brain Male	brain
37	chr7:138576000-138578600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:138576000-138584200	Strong transcription	Brain Germinal Matrix	brain
39	chr7:138576000-138584800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:138576000-138592200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:138576000-138594800	Strong transcription	Fetal Brain Female	brain
42	chr7:138576000-138596600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:138576000-138601400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:138576200-138578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:138576200-138578800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:138576200-138579000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:138576200-138581000	Weak transcription	NHLF	lung
48	chr7:138576200-138581400	Weak transcription	Pancreas	Pancrea
49	chr7:138576200-138601800	Weak transcription	Right Ventricle	heart
50	chr7:138576200-138602000	Weak transcription	Left Ventricle	heart

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