Variant report

Variant	rs12170161
Chromosome Location	chr22:28317401-28317402
allele	A/C
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	POLR2A	chr22:28317373-28317635	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28317023..28318646-chr22:28319576..28321605,2	MCF-7	breast:

Variant related genes	Relation type
PITPNB	TF binding region
MIR3199-2	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1000112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs118840	0.90[MEX][hapmap]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs12168582	0.90[MEX][hapmap]
rs12169782	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130411	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs130414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap]
rs13058351	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138630	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs138636	0.90[MEX][hapmap]
rs138639	0.90[MEX][hapmap]
rs138646	0.90[MEX][hapmap]
rs138648	0.80[MEX][hapmap]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2143420	0.90[MEX][hapmap]
rs34734418	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs470101	0.90[MEX][hapmap]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292859	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs926467	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs9620755	0.95[ASN][1000 genomes]
rs9620758	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625352	0.90[MEX][hapmap]
rs9625355	0.84[ASN][1000 genomes]
rs9625368	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625378	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9985181	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12170161	ZNF70	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316000-28317800	Enhancers	Small Intestine	intestine
2	chr22:28316200-28326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
4	chr22:28316200-28337400	Weak transcription	Ovary	ovary
5	chr22:28316400-28317600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr22:28316400-28317600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:28316400-28317600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr22:28316400-28317800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr22:28316400-28317800	Enhancers	Fetal Heart	heart
10	chr22:28316400-28318000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:28316400-28319400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:28316400-28320400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:28316400-28321400	Weak transcription	Spleen	Spleen
14	chr22:28316400-28322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:28316400-28322400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:28316400-28322600	Weak transcription	HSMMtube	muscle
17	chr22:28316400-28326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:28316400-28326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:28316400-28326400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:28316400-28326400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:28316400-28326600	Weak transcription	Right Ventricle	heart
22	chr22:28316400-28327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
24	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
25	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
27	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
30	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
33	chr22:28316600-28317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:28316600-28317600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr22:28316600-28317600	Enhancers	Thymus	Thymus
36	chr22:28316600-28318000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:28316600-28319200	Weak transcription	Fetal Thymus	thymus
38	chr22:28316600-28320000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:28316600-28323200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr22:28316600-28325400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:28316600-28328600	Weak transcription	Stomach Mucosa	stomach
42	chr22:28316600-28348400	Weak transcription	Brain Substantia Nigra	brain
43	chr22:28316800-28317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:28316800-28317600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:28316800-28318000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr22:28316800-28318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr22:28316800-28319000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:28316800-28319200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:28316800-28319200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:28316800-28319400	Weak transcription	Fetal Brain Female	brain

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