Variant report

Variant	rs7836422
Chromosome Location	chr8:38850021-38850022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:38841597..38844221-chr8:38849102..38850866,2	MCF-7	breast:
2	chr8:38847973..38851292-chr8:38852746..38855360,5	MCF-7	breast:
3	chr8:38842260..38845059-chr8:38847931..38850445,2	MCF-7	breast:
4	chr8:38849585..38851368-chr8:38856687..38858833,2	MCF-7	breast:
5	chr8:38829292..38831588-chr8:38847607..38850439,2	K562	blood:

Variant related genes	Relation type
ENSG00000168615	Chromatin interaction
ENSG00000253645	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10091297	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093975	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095616	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10441608	0.93[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs10809000	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11784624	0.87[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap]
rs12676405	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28372047	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28523000	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28579045	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28690874	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4075849	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs4269506	0.87[ASW][hapmap];0.86[YRI][hapmap]
rs4489297	0.83[ASN][1000 genomes]
rs4517088	0.87[ASW][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap]
rs4615534	0.87[ASW][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap]
rs4733897	0.82[CHB][hapmap]
rs4733962	0.92[CEU][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733964	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs56018450	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6474514	0.88[ASW][hapmap];0.81[CEU][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6474516	0.83[CHD][hapmap]
rs6474517	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474525	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs66513029	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985572	0.83[CHD][hapmap]
rs6991383	0.87[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6991968	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997721	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7001985	0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs7006414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006535	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7015505	0.87[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap]
rs7295	0.83[CHD][hapmap]
rs7814264	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818363	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs7821437	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7823125	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826010	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7830323	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7831735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832284	0.88[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap]
rs7832975	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833430	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7834967	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7835604	0.80[AMR][1000 genomes]
rs7840044	0.87[ASW][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7840270	0.92[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842543	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842732	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844927	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9650347	0.87[ASW][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap]
rs9987126	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs9987222	0.84[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv820251	chr8:38848740-38853026	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7836422	ADAM32	cis	Artery Tibial	GTEx
rs7836422	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL
rs7836422	PLEKHA2	cis	lymphoblastoid	seeQTL
rs7836422	ADAM32	cis	Nerve Tibial	GTEx
rs7836422	ADAM32	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38832600-38853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:38845200-38851600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr8:38845400-38852000	Strong transcription	Osteobl	bone
4	chr8:38845600-38851600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:38845800-38851400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:38845800-38851800	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:38846000-38851200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:38846000-38852400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:38846200-38851400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:38846200-38851400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:38846200-38851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:38846400-38850400	Strong transcription	Dnd41	blood
13	chr8:38846400-38850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:38846400-38851600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:38846400-38852200	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr8:38846400-38852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:38846400-38852400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:38846400-38852600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:38846600-38850600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:38846600-38851400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:38846600-38851600	Strong transcription	Fetal Intestine Large	intestine
22	chr8:38846600-38851600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:38846600-38852200	Weak transcription	Fetal Heart	heart
24	chr8:38846600-38852400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:38846600-38853000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:38846800-38850800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:38846800-38851200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:38846800-38851200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:38846800-38851200	Strong transcription	Fetal Stomach	stomach
30	chr8:38846800-38851600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:38846800-38852200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:38847000-38851600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:38847400-38852000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:38847400-38852000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:38847400-38852200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:38847400-38852400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:38847400-38852800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:38847600-38850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:38847600-38850200	Strong transcription	GM12878-XiMat	blood
40	chr8:38847600-38850800	Strong transcription	NHLF	lung
41	chr8:38847600-38851000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:38847600-38851000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:38847600-38851200	Strong transcription	A549	lung
44	chr8:38847600-38851200	Strong transcription	NH-A	brain
45	chr8:38847600-38851400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:38847600-38851600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:38847600-38851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:38847600-38851600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:38847600-38851800	Strong transcription	Primary T cells from cord blood	blood
50	chr8:38847600-38852000	Strong transcription	Placenta	Placenta

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