Variant report

Variant	rs923829
Chromosome Location	chr12:58174306-58174307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58172994..58174692-chr12:58175179..58178042,2	MCF-7	breast:
2	chr12:58174276..58176764-chr12:58197954..58200651,2	K562	blood:

Variant related genes	Relation type
ENSG00000123297	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000206749	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1021469	0.92[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10431505	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747786	0.83[JPT][hapmap]
rs10747787	0.83[JPT][hapmap]
rs10783847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877011	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10877012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877013	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877017	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877018	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877029	0.83[JPT][hapmap]
rs10877030	0.83[JPT][hapmap]
rs11172333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172342	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172350	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172351	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11172367	0.83[JPT][hapmap]
rs11172369	0.84[JPT][hapmap]
rs1599931	0.88[JPT][hapmap]
rs1599932	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875125	0.89[JPT][hapmap]
rs2014886	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2069506	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291617	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782130	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825079	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237844	0.83[JPT][hapmap]
rs4646536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4760171	0.83[JPT][hapmap];0.90[YRI][hapmap]
rs4760172	0.83[JPT][hapmap]
rs4760332	0.88[JPT][hapmap]
rs4760339	0.83[JPT][hapmap]
rs4760341	0.83[JPT][hapmap]
rs56177740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs703842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312623	0.83[JPT][hapmap]
rs7965287	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870392	0.88[JPT][hapmap]
rs871871	0.88[JPT][hapmap];0.85[YRI][hapmap]
rs9652011	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs923829	XRCC6BP1	cis	Whole Blood	GTEx
rs923829	METTL21B	cis	Whole Blood	GTEx
rs923829	METTL21B	cis	lung	GTEx
rs923829	TSFM	cis	multi-tissue	Pritchard
rs923829	DKFZP586D0919	cis	multi-tissue	Pritchard
rs923829	METTL21B	cis	Skin Sun Exposed Lower leg	GTEx
rs923829	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs923829	METTL21B	cis	Nerve Tibial	GTEx
rs923829	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs923829	METTL21B	cis	Muscle Skeletal	GTEx
rs923829	METTL21B	cis	Esophagus Mucosa	GTEx
rs923829	FAM119B	cis	Cerebellum	GTEx
rs923829	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs923829	FAM119B	cis	Frontal Cortex	GTEx
rs923829	FAM119B	cis	Lymphoblastoid	GTEx
rs923829	TSFM	cis	Muscle Skeletal	GTEx
rs923829	FAM119B	cis	Brain Pons	GTEx
rs923829	METTL21B	cis	Heart Left Ventricle	GTEx
rs923829	METTL21B	cis	Adipose Subcutaneous	GTEx
rs923829	METTL21B	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58166800-58176600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:58167000-58175600	Weak transcription	Spleen	Spleen
3	chr12:58167000-58175800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:58167000-58176400	Weak transcription	Gastric	stomach
5	chr12:58167200-58174400	Weak transcription	Liver	Liver
6	chr12:58167200-58174600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:58167200-58175600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:58167200-58176000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:58167200-58176000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:58167200-58176400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:58167200-58176400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:58167200-58176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:58167200-58176400	Weak transcription	Right Ventricle	heart
14	chr12:58167400-58175600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:58167400-58175600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:58167400-58176000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:58167400-58176200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:58167400-58176200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:58167400-58176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:58167400-58176400	Weak transcription	Colonic Mucosa	Colon
21	chr12:58167400-58176400	Weak transcription	Left Ventricle	heart
22	chr12:58167600-58175800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:58167600-58175800	Weak transcription	HepG2	liver
24	chr12:58167600-58175800	Weak transcription	K562	blood
25	chr12:58167600-58176000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:58167600-58176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:58167600-58176000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:58167600-58176200	Weak transcription	NH-A	brain
29	chr12:58167600-58176200	Weak transcription	NHDF-Ad	bronchial
30	chr12:58167600-58176400	Weak transcription	Placenta	Placenta
31	chr12:58167600-58176400	Weak transcription	HSMMtube	muscle
32	chr12:58167600-58176600	Weak transcription	Fetal Brain Male	brain
33	chr12:58167800-58176000	Weak transcription	HMEC	breast
34	chr12:58167800-58176200	Weak transcription	Fetal Kidney	kidney
35	chr12:58167800-58176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:58168400-58174800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:58168400-58175200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:58168400-58175200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:58168600-58176000	Weak transcription	Hela-S3	cervix
40	chr12:58169400-58175400	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:58170000-58175600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:58170000-58175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:58170000-58176200	Weak transcription	A549	lung
44	chr12:58170000-58176400	Weak transcription	HSMM	muscle
45	chr12:58170200-58176400	Weak transcription	Ovary	ovary
46	chr12:58170400-58176400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:58170400-58176400	Weak transcription	NHLF	lung
48	chr12:58171400-58176200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:58171600-58176400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:58171800-58175200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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