Variant report

Variant	rs7569128
Chromosome Location	chr2:191446691-191446692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191398265..191400874-chr2:191441463..191447520,6	MCF-7	breast:
2	chr2:191445550..191448092-chr2:191512865..191515338,2	K562	blood:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000233654	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10188341	0.80[JPT][hapmap]
rs10190082	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10197348	0.85[JPT][hapmap]
rs10432434	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931458	0.90[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1128723	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11885992	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12052514	0.86[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12053190	0.86[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12470863	0.98[ASN][1000 genomes]
rs12472081	0.90[ASW][hapmap];0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12474531	0.91[ASN][1000 genomes]
rs12477369	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832765	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2192010	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818159	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4129082	0.85[JPT][hapmap]
rs4258824	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4261750	0.85[JPT][hapmap]
rs4287794	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs4340549	0.90[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4371384	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4439990	0.86[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4641969	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4853510	0.80[ASN][1000 genomes]
rs4853710	0.85[JPT][hapmap]
rs56342910	0.82[EUR][1000 genomes]
rs58568707	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59929070	0.82[EUR][1000 genomes]
rs60847675	0.96[ASN][1000 genomes]
rs60915953	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62181018	0.81[EUR][1000 genomes]
rs62181019	0.81[EUR][1000 genomes]
rs62181020	0.81[EUR][1000 genomes]
rs62181029	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62181034	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181052	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62182865	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182885	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182899	0.91[ASN][1000 genomes]
rs6711928	0.97[ASN][1000 genomes]
rs6731287	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7567059	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7581762	0.85[JPT][hapmap]
rs7581986	0.85[JPT][hapmap]
rs7592578	0.80[AMR][1000 genomes]
rs7608839	0.90[CHB][hapmap];0.86[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7569128	INPP1	cis	cerebellum	SCAN
rs7569128	HIBCH	cis	cerebellum	SCAN
rs7569128	MFSD6	cis	cerebellum	SCAN
rs7569128	HIBCH	cis	parietal	SCAN
rs7569128	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs7569128	TMEM194B	cis	cerebellum	SCAN
rs7569128	INPP1	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443600-191448400	Weak transcription	Placenta	Placenta
3	chr2:191443800-191447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:191443800-191447000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:191443800-191447600	Weak transcription	Right Ventricle	heart
6	chr2:191443800-191447600	Weak transcription	NHLF	lung
7	chr2:191443800-191447800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:191443800-191448200	Weak transcription	Osteobl	bone
9	chr2:191443800-191448400	Weak transcription	Left Ventricle	heart
10	chr2:191443800-191450200	Weak transcription	Esophagus	oesophagus
11	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
12	chr2:191444000-191446800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:191444000-191447000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:191444000-191447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:191444000-191447400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:191444000-191447400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:191444000-191447600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:191444000-191447600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:191444000-191447600	Weak transcription	NHDF-Ad	bronchial
20	chr2:191444000-191449600	Weak transcription	Fetal Brain Male	brain
21	chr2:191444200-191446800	Weak transcription	Brain Angular Gyrus	brain
22	chr2:191444200-191447200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:191444200-191447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:191444400-191447000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:191444800-191447200	Weak transcription	HSMMtube	muscle
27	chr2:191445000-191448400	Weak transcription	Ovary	ovary
28	chr2:191445200-191448000	Weak transcription	HMEC	breast
29	chr2:191445200-191448400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:191445400-191447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:191445400-191450800	Enhancers	Fetal Stomach	stomach
32	chr2:191445600-191447800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:191445600-191448000	Weak transcription	NHEK	skin
34	chr2:191445600-191448400	Weak transcription	Small Intestine	intestine
35	chr2:191445800-191447400	Weak transcription	Hela-S3	cervix
36	chr2:191445800-191449000	Enhancers	K562	blood
37	chr2:191446000-191447600	Weak transcription	A549	lung
38	chr2:191446000-191448200	Enhancers	Fetal Lung	lung
39	chr2:191446400-191447800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:191446600-191446800	Enhancers	Colon Smooth Muscle	Colon
41	chr2:191446600-191447200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:191446600-191448200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:191446600-191448800	Enhancers	Right Atrium	heart
44	chr2:191446600-191449000	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:191446600-191449000	Enhancers	Brain Substantia Nigra	brain
46	chr2:191446600-191449400	Enhancers	Fetal Heart	heart

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