Variant report

Variant	rs937766
Chromosome Location	chr12:123331094-123331095
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
2	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
3	chr12:123329996..123331775-chr12:123464843..123467149,2	K562	blood:
4	chr12:123329055..123330600-chr12:123330820..123333817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182196	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10744422	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744434	0.91[EUR][1000 genomes]
rs10773627	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10773657	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10847826	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847869	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11060208	0.80[ASN][1000 genomes]
rs11060209	0.89[ASN][1000 genomes]
rs12255	0.92[EUR][1000 genomes]
rs12298664	0.88[ASN][1000 genomes]
rs12299742	0.86[ASN][1000 genomes]
rs12314494	0.88[ASN][1000 genomes]
rs12314544	0.88[ASN][1000 genomes]
rs12319654	0.88[ASN][1000 genomes]
rs12369846	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12426809	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587856	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1671685	0.88[ASN][1000 genomes]
rs1696326	0.88[ASN][1000 genomes]
rs1696349	0.88[ASN][1000 genomes]
rs1799618	0.88[ASN][1000 genomes]
rs1979236	0.88[ASN][1000 genomes]
rs1979237	0.88[ASN][1000 genomes]
rs2061098	0.93[EUR][1000 genomes]
rs2061101	0.86[EUR][1000 genomes]
rs2100500	0.88[ASN][1000 genomes]
rs2135014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271049	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2271050	0.85[ASN][1000 genomes]
rs2292131	0.88[ASN][1000 genomes]
rs2292132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292136	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2292138	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2343108	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2343109	0.92[EUR][1000 genomes]
rs2343685	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2649908	0.87[ASN][1000 genomes]
rs2649909	0.88[ASN][1000 genomes]
rs2880678	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825143	0.92[EUR][1000 genomes]
rs3852536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3852537	0.91[EUR][1000 genomes]
rs3896870	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4759355	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4759381	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4759382	0.93[EUR][1000 genomes]
rs4759386	0.91[EUR][1000 genomes]
rs4759387	0.91[EUR][1000 genomes]
rs4759389	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4759392	0.82[EUR][1000 genomes]
rs56272219	0.88[ASN][1000 genomes]
rs59922385	0.88[ASN][1000 genomes]
rs60308342	0.85[ASN][1000 genomes]
rs7138398	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7139055	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7294991	0.82[EUR][1000 genomes]
rs7303024	0.88[ASN][1000 genomes]
rs7309225	0.82[EUR][1000 genomes]
rs73421642	0.88[ASN][1000 genomes]
rs735378	0.88[ASN][1000 genomes]
rs7398546	0.89[ASN][1000 genomes]
rs754080	0.88[ASN][1000 genomes]
rs7959441	0.91[EUR][1000 genomes]
rs7972447	0.93[EUR][1000 genomes]
rs7980541	0.91[EUR][1000 genomes]
rs897385	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs897386	0.93[EUR][1000 genomes]
rs897391	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897392	0.97[ASN][1000 genomes]
rs897393	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921808	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs936083	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs937520	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3370569	chr12:123328549-123331347	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs937766	CCDC62	cis	Thyroid	GTEx

Chromatin state (count:101 , 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	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123322800-123339600	Weak transcription	Dnd41	blood
9	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:123324800-123332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:123324800-123332200	Genic enhancers	Gastric	stomach
19	chr12:123324800-123332400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
21	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:123325400-123331400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:123325400-123332600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:123325800-123332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123325800-123333000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:123326200-123331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:123326600-123335600	Weak transcription	NHLF	lung
29	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
30	chr12:123326600-123345000	Weak transcription	A549	lung
31	chr12:123326800-123331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:123326800-123335400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:123327000-123332200	Weak transcription	Brain Germinal Matrix	brain
34	chr12:123327200-123333000	Weak transcription	Liver	Liver
35	chr12:123327200-123333000	Enhancers	Brain Substantia Nigra	brain
36	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
39	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:123327600-123334200	Weak transcription	Adipose Nuclei	Adipose
42	chr12:123327600-123335400	Weak transcription	HUVEC	blood vessel
43	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:123327800-123332600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:123328200-123332400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:123328400-123336200	Weak transcription	Placenta	Placenta
49	chr12:123328600-123332400	Weak transcription	Fetal Intestine Large	intestine
50	chr12:123329000-123331600	Enhancers	Fetal Muscle Leg	muscle

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