Variant report

Variant	rs802026
Chromosome Location	chr7:86989039-86989040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:86988519-86989209	SK-N-SH	brain:	n/a	n/a
2	FOS	chr7:86988570-86989204	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr7:86988545-86989200	SK-N-SH	brain:	n/a	n/a
4	FOS	chr7:86988559-86989107	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr7:86988651-86989115	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr7:86988560-86989112	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL2	chr7:86988616-86989077	SK-N-SH	brain:	n/a	n/a
8	STAT3	chr7:86988649-86989107	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:86988551-86989348	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:86988652-86989094	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr7:86988562-86989129	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr7:86988706-86989267	MCF-7	breast:	n/a	n/a
13	JUND	chr7:86988566-86989125	SK-N-SH	brain:	n/a	n/a
14	STAT3	chr7:86988647-86989115	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr7:86988725-86989148	MCF-7	breast:	n/a	n/a
16	MYC	chr7:86988659-86989146	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86988004..86990637-chr7:86992720..86995638,2	K562	blood:
2	chr7:86986788..86989391-chr7:86995348..86996956,2	MCF-7	breast:
3	chr7:86973059..86975261-chr7:86988667..86991001,2	MCF-7	breast:

Variant related genes	Relation type
CROT	TF binding region
ENSG00000182165	Chromatin interaction
ENSG00000005469	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2051950	0.95[GIH][hapmap];1.00[ASN][1000 genomes]
rs55953428	1.00[ASN][1000 genomes]
rs56146479	1.00[ASN][1000 genomes]
rs60509911	1.00[ASN][1000 genomes]
rs60757438	1.00[ASN][1000 genomes]
rs73194659	0.89[EUR][1000 genomes]
rs7786781	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs802028	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802029	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802030	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs802048	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs802026	STEAP1	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86975600-87025800	Weak transcription	Gastric	stomach
2	chr7:86975600-87029800	Weak transcription	Psoas Muscle	Psoas
3	chr7:86975800-87031000	Weak transcription	Pancreas	Pancrea
4	chr7:86976200-86990000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:86976800-87016000	Weak transcription	Aorta	Aorta
6	chr7:86977000-86989400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:86977800-86989200	Strong transcription	Liver	Liver
8	chr7:86979400-87024600	Weak transcription	Small Intestine	intestine
9	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
10	chr7:86980200-86997800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:86980200-87011800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:86980200-87020400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:86980200-87028600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:86981800-86995800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:86982400-87027600	Weak transcription	HSMMtube	muscle
16	chr7:86983200-86991600	Weak transcription	Esophagus	oesophagus
17	chr7:86983400-86990600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:86983600-87027000	Weak transcription	Colonic Mucosa	Colon
19	chr7:86983800-86997600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:86983800-86997800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:86983800-87016000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:86983800-87027800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:86984000-87000000	Weak transcription	NHDF-Ad	bronchial
24	chr7:86984000-87006800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:86984000-87011600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:86984400-86997400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:86984600-86996800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:86984600-86998200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:86984800-86989800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:86984800-87027000	Weak transcription	Thymus	Thymus
31	chr7:86985200-87001200	Weak transcription	Fetal Brain Male	brain
32	chr7:86985200-87011600	Weak transcription	GM12878-XiMat	blood
33	chr7:86985200-87015800	Weak transcription	Fetal Kidney	kidney
34	chr7:86985200-87027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:86985400-86993400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:86985400-87018000	Weak transcription	Brain Germinal Matrix	brain
37	chr7:86985400-87027600	Weak transcription	NHLF	lung
38	chr7:86985600-86998800	Weak transcription	Fetal Brain Female	brain
39	chr7:86985600-87011000	Weak transcription	Placenta	Placenta
40	chr7:86985600-87017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:86985600-87017000	Weak transcription	Fetal Thymus	thymus
42	chr7:86985600-87026200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:86985800-86997400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:86986000-87011600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:86986200-86993000	Strong transcription	Fetal Intestine Large	intestine
46	chr7:86986600-87011600	Weak transcription	Ovary	ovary
47	chr7:86986800-86993200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:86987000-86992600	Weak transcription	HepG2	liver
49	chr7:86987000-87000000	Weak transcription	A549	lung
50	chr7:86987000-87007600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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