Variant report

Variant	rs921808
Chromosome Location	chr12:123323135-123323136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:
2	chr12:123285953..123287953-chr12:123322856..123324793,2	MCF-7	breast:
3	chr12:123321295..123323539-chr12:123344367..123346467,3	MCF-7	breast:
4	chr12:123322572..123324724-chr12:123716443..123718391,2	K562	blood:
5	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10744422	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744434	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10773599	0.81[YRI][hapmap]
rs10773627	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];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10773657	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847742	0.81[YRI][hapmap]
rs10847749	0.81[YRI][hapmap]
rs10847751	0.81[YRI][hapmap]
rs10847775	0.80[YRI][hapmap]
rs10847826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10847869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11060064	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs11060065	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs11060152	0.81[YRI][hapmap]
rs11060208	0.84[ASN][1000 genomes]
rs11060209	0.90[ASN][1000 genomes]
rs12255	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12298664	0.88[ASN][1000 genomes]
rs12299742	0.90[ASN][1000 genomes]
rs12313006	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs12314494	0.88[ASN][1000 genomes]
rs12314544	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12319654	0.88[ASN][1000 genomes]
rs12426809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532835	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587856	0.92[EUR][1000 genomes]
rs1671681	0.81[YRI][hapmap]
rs1671682	0.80[YRI][hapmap]
rs1671685	0.88[ASN][1000 genomes]
rs1696322	0.89[YRI][hapmap]
rs1696326	0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1696349	0.88[ASN][1000 genomes]
rs1798561	0.81[YRI][hapmap]
rs1798569	0.81[YRI][hapmap]
rs1799618	0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1979236	0.88[ASN][1000 genomes]
rs1979237	0.88[ASN][1000 genomes]
rs2061098	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2061101	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2100500	0.88[ASN][1000 genomes]
rs2135014	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271049	0.83[ASN][1000 genomes]
rs2271050	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs2271051	0.86[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap]
rs2292131	0.88[ASN][1000 genomes]
rs2292132	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292134	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292135	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292136	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2292138	0.92[EUR][1000 genomes]
rs2343108	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2343109	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2343685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2649908	0.87[ASN][1000 genomes]
rs2649909	0.88[ASN][1000 genomes]
rs2880678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817094	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825143	0.94[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3844369	0.81[YRI][hapmap]
rs3852536	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3852537	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3896870	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4307760	0.81[YRI][hapmap]
rs4759355	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4759381	0.92[EUR][1000 genomes]
rs4759382	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759386	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4759387	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4759389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4759392	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4759393	0.81[ASW][hapmap];0.83[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap]
rs56272219	0.88[ASN][1000 genomes]
rs59922385	0.88[ASN][1000 genomes]
rs60308342	0.86[ASN][1000 genomes]
rs6489245	0.87[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs6489247	0.83[CEU][hapmap]
rs7138398	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7139055	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7294991	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303024	0.88[ASN][1000 genomes]
rs7309225	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73421642	0.88[ASN][1000 genomes]
rs735378	0.88[ASN][1000 genomes]
rs7398546	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs754080	0.88[ASN][1000 genomes]
rs7957643	0.81[CEU][hapmap];0.81[YRI][hapmap]
rs7959441	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7972447	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7980541	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs839360	0.86[CHB][hapmap]
rs897385	0.92[EUR][1000 genomes]
rs897386	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs897391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897392	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs897393	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs936083	0.83[CEU][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs937520	0.87[ASN][1000 genomes]
rs937766	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs967281	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs921808	HIP1R	cis	parietal	SCAN
rs921808	CCDC62	cis	cerebellum	SCAN
rs921808	VPS37B	cis	lymphoblastoid	seeQTL
rs921808	ACADS	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321400-123323200	Weak transcription	Gastric	stomach
2	chr12:123321400-123323600	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:123321400-123324400	Weak transcription	Lung	lung
4	chr12:123321600-123323200	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr12:123321600-123323400	Flanking Active TSS	Fetal Intestine Large	intestine
6	chr12:123321600-123324400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:123321600-123324400	Weak transcription	Right Ventricle	heart
8	chr12:123321600-123324400	Weak transcription	NHLF	lung
9	chr12:123321600-123324600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:123321600-123324600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:123321600-123324600	Weak transcription	Psoas Muscle	Psoas
12	chr12:123321600-123324600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:123321600-123324600	Weak transcription	HSMM	muscle
14	chr12:123321600-123325000	Enhancers	Fetal Brain Male	brain
15	chr12:123321600-123325000	Weak transcription	NH-A	brain
16	chr12:123321600-123325600	Weak transcription	Placenta	Placenta
17	chr12:123321600-123325600	Weak transcription	Osteobl	bone
18	chr12:123321600-123326400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:123321600-123327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:123321600-123332800	Weak transcription	Ovary	ovary
21	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:123321800-123323200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:123321800-123323200	Enhancers	Primary T cells from cord blood	blood
24	chr12:123321800-123323200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:123321800-123323200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:123321800-123323200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:123321800-123323200	Enhancers	NHEK	skin
28	chr12:123321800-123323400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:123321800-123323600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:123321800-123323600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:123321800-123323600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123321800-123323600	Weak transcription	Small Intestine	intestine
33	chr12:123321800-123323800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:123321800-123324400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:123321800-123324400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr12:123321800-123324600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:123321800-123324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:123321800-123324600	Weak transcription	NHDF-Ad	bronchial
39	chr12:123321800-123324800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:123321800-123324800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:123321800-123325000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123321800-123325200	Enhancers	HMEC	breast
43	chr12:123321800-123325800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123321800-123325800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123321800-123325800	Enhancers	Colonic Mucosa	Colon
46	chr12:123321800-123326200	Enhancers	Brain Anterior Caudate	brain
47	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
48	chr12:123322000-123323400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:123322000-123324400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:123322000-123324600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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