Variant report

Variant	rs10847869
Chromosome Location	chr12:123328359-123328360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
2	chr12:123327206..123329436-chr12:123341380..123343858,2	MCF-7	breast:
3	chr12:123328262..123330774-chr12:123333932..123336446,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10744422	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10744434	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10773627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10773657	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11060208	0.83[ASN][1000 genomes]
rs11060209	0.92[ASN][1000 genomes]
rs12255	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12298664	0.90[ASN][1000 genomes]
rs12299742	0.88[ASN][1000 genomes]
rs12314494	0.90[ASN][1000 genomes]
rs12314544	0.90[ASN][1000 genomes]
rs12319654	0.90[ASN][1000 genomes]
rs12426809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1587856	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1671685	0.90[ASN][1000 genomes]
rs1696326	0.90[ASN][1000 genomes]
rs1696349	0.90[ASN][1000 genomes]
rs1799618	0.90[ASN][1000 genomes]
rs1979236	0.90[ASN][1000 genomes]
rs1979237	0.90[ASN][1000 genomes]
rs2061098	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2061101	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2100500	0.90[ASN][1000 genomes]
rs2135014	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271049	0.85[ASN][1000 genomes]
rs2271050	0.82[ASN][1000 genomes]
rs2292131	0.90[ASN][1000 genomes]
rs2292132	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292134	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292135	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292136	0.83[ASN][1000 genomes]
rs2292138	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2343108	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2343109	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2343685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2649908	0.89[ASN][1000 genomes]
rs2649909	0.90[ASN][1000 genomes]
rs2880678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817094	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825143	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3852536	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3852537	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3896870	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4759355	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4759381	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4759382	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4759386	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4759387	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4759389	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4759392	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56272219	0.90[ASN][1000 genomes]
rs59922385	0.90[ASN][1000 genomes]
rs60308342	0.88[ASN][1000 genomes]
rs7138398	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7139055	0.91[EUR][1000 genomes]
rs7294991	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303024	0.90[ASN][1000 genomes]
rs7309225	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73421642	0.90[ASN][1000 genomes]
rs735378	0.90[ASN][1000 genomes]
rs7398546	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs754080	0.90[ASN][1000 genomes]
rs7959441	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7972447	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7980541	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs897385	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs897386	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs897391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897392	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs897393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs921808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs936083	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937520	0.88[ASN][1000 genomes]
rs937766	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321600-123332800	Weak transcription	Ovary	ovary
2	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
4	chr12:123322000-123332400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:123322400-123329000	Weak transcription	Thymus	Thymus
6	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:123322800-123329600	Weak transcription	Spleen	Spleen
8	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123322800-123339600	Weak transcription	Dnd41	blood
11	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:123323000-123330400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:123323800-123329200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:123323800-123331000	Enhancers	Stomach Mucosa	stomach
20	chr12:123324400-123328400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:123324600-123330400	Enhancers	Right Atrium	heart
22	chr12:123324600-123330600	Enhancers	Left Ventricle	heart
23	chr12:123324600-123330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:123324800-123332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:123324800-123332200	Genic enhancers	Gastric	stomach
28	chr12:123324800-123332400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
30	chr12:123325000-123329400	Enhancers	Brain Angular Gyrus	brain
31	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:123325200-123329800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:123325400-123329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:123325400-123331400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:123325400-123332600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:123325600-123328400	Enhancers	Placenta	Placenta
38	chr12:123325600-123330000	Weak transcription	Fetal Thymus	thymus
39	chr12:123325800-123328400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:123325800-123329800	Weak transcription	Colonic Mucosa	Colon
41	chr12:123325800-123331000	Enhancers	Fetal Heart	heart
42	chr12:123325800-123332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:123325800-123333000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:123326000-123328400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:123326000-123329000	Enhancers	Pancreas	Pancrea
46	chr12:123326200-123328400	Flanking Active TSS	HepG2	liver
47	chr12:123326200-123331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123326400-123328600	Enhancers	Fetal Intestine Large	intestine
49	chr12:123326600-123328800	Weak transcription	Primary T cells from cord blood	blood
50	chr12:123326600-123329200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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