Variant report

Variant	rs10486011
Chromosome Location	chr7:97481812-97481813
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	chr7:97481488..97486650-chr7:97486817..97491260,8	K562	blood:

Variant related genes	Relation type
ENSG00000070669	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10486009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486010	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760644	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773753	0.81[EUR][1000 genomes]
rs12668015	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13224424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226994	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13227012	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13237150	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239311	0.82[CHB][hapmap];0.97[GIH][hapmap]
rs17131831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34444766	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34511149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34836650	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35381536	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41278830	0.81[EUR][1000 genomes]
rs55960605	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563538	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786920	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7803055	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv981551	chr7:97481277-97482883	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10486011	CYP3A4	cis	cerebellum	SCAN
rs10486011	ZNF394	cis	cerebellum	SCAN
rs10486011	STAG3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97472800-97483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:97474800-97482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:97477200-97485400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
6	chr7:97478600-97483400	Weak transcription	Osteobl	bone
7	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:97479200-97486200	Weak transcription	Small Intestine	intestine
9	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
10	chr7:97479400-97483400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:97479400-97484400	Weak transcription	Hela-S3	cervix
12	chr7:97479400-97487200	Weak transcription	Left Ventricle	heart
13	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:97479600-97483400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:97479600-97486800	Weak transcription	NH-A	brain
17	chr7:97479600-97487000	Weak transcription	Fetal Stomach	stomach
18	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97479800-97482200	Weak transcription	Psoas Muscle	Psoas
20	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:97480000-97482400	Weak transcription	NHEK	skin
22	chr7:97480000-97491800	Weak transcription	Stomach Mucosa	stomach
23	chr7:97480200-97482000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:97480600-97482800	Strong transcription	Brain Hippocampus Middle	brain
26	chr7:97480600-97483400	Weak transcription	Liver	Liver
27	chr7:97480600-97484200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:97480600-97488600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:97480600-97488800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:97480600-97489600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:97480600-97498200	Strong transcription	K562	blood
33	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:97480800-97482000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:97480800-97482200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:97480800-97482400	Strong transcription	Ovary	ovary
37	chr7:97480800-97482600	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:97480800-97482800	Strong transcription	Brain Germinal Matrix	brain
39	chr7:97480800-97483000	Strong transcription	A549	lung
40	chr7:97480800-97483200	Weak transcription	NHLF	lung
41	chr7:97480800-97483400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:97480800-97483600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:97480800-97484000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:97480800-97484000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:97480800-97487600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:97480800-97487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:97480800-97487800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:97480800-97488000	Strong transcription	Primary B cells from cord blood	blood
49	chr7:97480800-97488400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr7:97480800-97488400	Strong transcription	Primary B cells from peripheral blood	blood

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