Variant report

Variant	rs10876081
Chromosome Location	chr12:51155991-51155992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51155964-51156421	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:51155897-51159173	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:51155986-51156511	GM12892	blood:	n/a	n/a
4	RCOR1	chr12:51155906-51156286	K562	blood:	n/a	n/a
5	MAZ	chr12:51155925-51156242	K562	blood:	n/a	n/a
6	POLR2A	chr12:51154747-51156514	K562	blood:	n/a	n/a
7	POLR2A	chr12:51153937-51156625	K562	blood:	n/a	n/a
8	TBL1XR1	chr12:51155937-51156632	K562	blood:	n/a	n/a
9	POLR2A	chr12:51155915-51156605	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:51155933-51156298	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:51155933-51156554	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:51154278-51156435	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:51155330-51156559	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr12:51155927-51156118	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:51155748-51156524	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:51155904-51156467	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:51155944-51156297	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr12:51155919-51156197	K562	blood:	n/a	n/a
19	EGR1	chr12:51155886-51156258	K562	blood:	n/a	n/a
20	POLR2A	chr12:51155870-51156557	K562	blood:	n/a	n/a
21	POLR2A	chr12:51155944-51156334	HCT-116	colon:	n/a	n/a
22	POLR2A	chr12:51155232-51156508	Raji	blood:	n/a	n/a
23	TEAD4	chr12:51155863-51156512	K562	blood:	n/a	n/a
24	TBP	chr12:51155910-51156285	K562	blood:	n/a	n/a
25	POLR2A	chr12:51155971-51156521	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:51155844-51156543	ECC-1	luminal epithelium:	n/a	n/a
27	TEAD4	chr12:51155852-51156329	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:51155913-51156178	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:51155951-51156387	GM12892	blood:	n/a	n/a
30	GTF3C2	chr12:51155665-51156264	K562	blood:	n/a	n/a
31	EGR1	chr12:51155890-51156181	K562	blood:	n/a	n/a
32	POLR2A	chr12:51154842-51156666	SK-N-MC	brain:	n/a	n/a
33	CBX3	chr12:51155907-51156380	K562	blood:	n/a	n/a
34	POLR2A	chr12:51155985-51156272	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr12:51154950-51159706	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:51155793-51156234	K562	blood:	n/a	n/a
37	POLR2A	chr12:51155929-51156438	K562	blood:	n/a	n/a
38	POLR2A	chr12:51155781-51156242	Hela-S3	cervix:	n/a	n/a
39	HEY1	chr12:51155961-51156523	K562	blood:	n/a	n/a
40	JUN	chr12:51155961-51159957	K562	blood:	n/a	chr12:51156279-51156291 chr12:51157952-51157961

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51154627..51156805-chr12:51157397..51159001,2	K562	blood:
2	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
3	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
4	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
5	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
6	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
7	chr12:51155985..51158147-chr12:51315840..51318391,2	MCF-7	breast:
8	chr12:51154190..51156314-chr5:179049312..179052209,2	MCF-7	breast:
9	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
10	chr12:51150985..51152690-chr12:51154606..51156360,3	K562	blood:

No data

Variant related genes	Relation type
ATF1	TF binding region
ENSG00000123268	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10459234	0.81[ASN][1000 genomes]
rs10459235	0.91[ASN][1000 genomes]
rs10506294	0.80[AMR][1000 genomes]
rs10747587	0.82[AMR][1000 genomes]
rs10783382	0.82[ASN][1000 genomes]
rs10783383	0.81[AMR][1000 genomes]
rs10783384	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10783389	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876080	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876090	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876094	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876095	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876096	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876097	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169528	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11169532	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169537	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169538	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169539	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169560	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169561	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615933	0.90[ASN][1000 genomes]
rs12424860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580479	0.85[ASN][1000 genomes]
rs12809086	0.80[AMR][1000 genomes]
rs1344958	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17124930	0.81[AMR][1000 genomes]
rs35845404	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3742063	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3742064	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3809319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825402	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4026593	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238108	0.80[AMR][1000 genomes]
rs4307773	0.96[ASN][1000 genomes]
rs4768866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768906	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4768907	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768911	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768912	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768913	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768914	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768922	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768923	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768924	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768925	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768940	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73094900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73096846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10876081	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
2	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51139600-51156000	Weak transcription	A549	lung
4	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
6	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:51142000-51156200	Weak transcription	HMEC	breast
8	chr12:51142000-51156200	Weak transcription	Osteobl	bone
9	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
10	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:51142200-51156400	Weak transcription	NH-A	brain
15	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
17	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
20	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
21	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
22	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:51144400-51156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:51144600-51156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:51144600-51156200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:51144600-51156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:51144600-51156800	Weak transcription	Lung	lung
28	chr12:51144800-51156000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:51144800-51156200	Weak transcription	Primary T cells from cord blood	blood
30	chr12:51144800-51156200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:51145000-51156800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:51145400-51156200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:51145400-51156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:51145400-51156200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:51146000-51156400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:51146000-51156800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:51146400-51156000	Weak transcription	GM12878-XiMat	blood
40	chr12:51149000-51157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:51150000-51156200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:51154400-51156000	Enhancers	Placenta	Placenta
43	chr12:51154400-51156800	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:51154600-51156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:51154800-51156400	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:51155200-51156000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:51155200-51156000	Enhancers	Dnd41	blood
48	chr12:51155200-51156200	Weak transcription	Primary B cells from cord blood	blood
49	chr12:51155200-51156200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:51155200-51156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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