Variant report

Variant	rs10876074
Chromosome Location	chr12:51031817-51031818
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:51031760-51031985	Pancreas_OC	pancreas:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
2	RAD21	chr12:51031444-51032162	ECC-1	luminal epithelium:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
3	CTCF	chr12:51031760-51031910	NHEK	skin:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
4	CTCF	chr12:51031800-51031950	NHDF-neo	bronchial:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
5	CTCF	chr12:51031786-51031973	GM10266	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
6	CTCF	chr12:51031780-51031930	HCFaa	heart:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
7	CTCF	chr12:51031679-51032015	K562	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
8	CTCF	chr12:51031800-51031950	HepG2	liver:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
9	RAD21	chr12:51031669-51032032	GM12878	blood:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
10	CTCF	chr12:51031782-51031951	LNCaP	prostate:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
11	RAD21	chr12:51031628-51031938	K562	blood:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
12	CTCF	chr12:51031755-51031988	GM12878	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
13	CTCF	chr12:51031760-51031910	GM12870	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
14	ZNF143	chr12:51031696-51032022	GM12878	blood:	n/a	n/a
15	RAD21	chr12:51031405-51032195	A549	lung:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
16	RAD21	chr12:51031279-51032129	HCT-116	colon:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
17	CTCF	chr12:51031782-51031963	GM10248	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
18	CTCF	chr12:51031800-51031950	HCPEpiC	choroid plexus:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
19	CTCF	chr12:51031800-51031950	AG10803	skin:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
20	SMC3	chr12:51031620-51032047	HepG2	liver:	n/a	chr12:51031854-51031868
21	RAD21	chr12:51031605-51032052	SK-N-SH_RA	brain:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
22	CTCF	chr12:51031596-51032089	A549	lung:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
23	CTCF	chr12:51031654-51032062	HepG2	liver:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
24	CTCF	chr12:51031800-51031950	HA-sp	spinal cord:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
25	CTCF	chr12:51031780-51031930	Caco-2	colon:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
26	CTCF	chr12:51031760-51031910	WERI-Rb-1	eye:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
27	CTCF	chr12:51031760-51031910	Hela-S3	cervix:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
28	CTCF	chr12:51031780-51031930	HFF-Myc	foreskin:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
29	CTCF	chr12:51031760-51031910	WI-38	lung:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
30	CTCF	chr12:51031740-51031890	GM12866	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
31	CTCF	chr12:51031800-51031950	HMEC	breast:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
32	SMC3	chr12:51031154-51032261	SK-N-SH	brain:	n/a	chr12:51031854-51031868 chr12:51031600-51031607
33	RAD21	chr12:51031453-51032224	MCF-7	breast:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
34	CTCF	chr12:51031800-51031950	SAEC	small airway:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
35	CTCF	chr12:51031701-51032009	HUVEC	blood vessel:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
36	RAD21	chr12:51031494-51032050	GM12878	blood:	n/a	chr12:51031860-51031867 chr12:51031850-51031869
37	CTCF	chr12:51031732-51032020	Medullo	brain:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
38	CTCF	chr12:51031800-51031950	GM12873	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
39	CTCF	chr12:51031785-51031943	LNCaP	prostate:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
40	CTCF	chr12:51031787-51031927	GM20000	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
41	CTCF	chr12:51031601-51032141	MCF-7	breast:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
42	USF2	chr12:51031714-51031998	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:51031777-51031963	SK-N-SH_RA	brain:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
44	CTCF	chr12:51031800-51031950	HMF	breast:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
45	CTCF	chr12:51031611-51032099	IMR90	lung:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
46	CTCF	chr12:51031800-51031950	GM12801	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
47	SMC3	chr12:51031686-51032016	K562	blood:	n/a	chr12:51031854-51031868
48	CTCF	chr12:51031780-51031930	HMEC	breast:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
49	CTCF	chr12:51031760-51031910	GM12878	blood:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870
50	CTCF	chr12:51031740-51031890	HAc	cerebellar:	n/a	chr12:51031847-51031868 chr12:51031853-51031869 chr12:51031852-51031870

No.	Distal block	Cell Line	Cell type
1	chr12:50899874..50900487-chr12:51031196..51031899,2	MCF-7	breast:
2	chr12:50898567..50902241-chr12:51030384..51032841,4	K562	blood:
3	chr12:50898261..50899103-chr12:51030933..51032337,6	K562	blood:
4	chr12:50898269..50899145-chr12:51031150..51032086,2	MCF-7	breast:
5	chr12:51028358..51031914-chr12:51032564..51035551,3	K562	blood:
6	chr12:50914316..50916819-chr12:51030767..51032473,2	MCF-7	breast:
7	chr12:50918071..50919801-chr12:51029133..51032048,2	MCF-7	breast:
8	chr12:50900701..50902991-chr12:51029876..51032348,2	MCF-7	breast:
9	chr12:51020299..51023018-chr12:51030928..51032901,3	K562	blood:
10	chr12:50897973..50902241-chr12:51030384..51032841,4	K562	blood:
11	chr12:51010956..51013399-chr12:51030994..51033191,2	MCF-7	breast:
12	chr12:50898252..50899206-chr12:51031365..51032150,3	MCF-7	breast:
13	chr12:51018962..51024057-chr12:51028915..51032528,4	K562	blood:
14	chr12:50897512..50899148-chr12:51031639..51034369,2	MCF-7	breast:
15	chr12:51022477..51026896-chr12:51028497..51032139,4	MCF-7	breast:
16	chr12:50898268..50899516-chr12:51031087..51032280,14	MCF-7	breast:
17	chr12:50897552..50900276-chr12:51029112..51034048,8	MCF-7	breast:

Variant related genes	Relation type
DIP2B	TF binding region
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10747583	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10876045	0.86[AMR][1000 genomes]
rs10876055	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10876059	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10876066	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876069	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11169453	0.84[AMR][1000 genomes]
rs11169484	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169486	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169490	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169492	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169506	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169523	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169524	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12307178	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12372538	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12425362	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12427378	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12582683	0.82[AMR][1000 genomes]
rs12814717	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12818741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12825915	0.85[AMR][1000 genomes]
rs1316442	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1316607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13378012	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2090852	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139930	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2264734	0.90[ASN][1000 genomes]
rs2280503	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2700478	0.95[ASN][1000 genomes]
rs34553264	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742062	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3935870	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4388959	0.87[ASN][1000 genomes]
rs61699126	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61926278	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7133687	0.85[AMR][1000 genomes]
rs7137845	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7298661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7298665	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7302435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7487429	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7965652	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs876080	0.98[ASN][1000 genomes]
rs9788075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10876074	CERS5	cis	Nerve Tibial	GTEx
rs10876074	ATF1	cis	Artery Tibial	GTEx
rs10876074	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
4	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
5	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:51021000-51039800	Weak transcription	NHLF	lung
10	chr12:51021600-51041000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:51021800-51034600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:51021800-51036000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:51021800-51041000	Weak transcription	Fetal Kidney	kidney
14	chr12:51021800-51041400	Weak transcription	Right Ventricle	heart
15	chr12:51022000-51033600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:51022000-51036200	Weak transcription	Pancreas	Pancrea
17	chr12:51022000-51037200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:51022000-51065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:51022000-51068400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:51022200-51035000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:51022400-51034000	Weak transcription	K562	blood
22	chr12:51022400-51035400	Weak transcription	Lung	lung
23	chr12:51022400-51055200	Weak transcription	Ovary	ovary
24	chr12:51022600-51035400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:51022600-51054000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:51022600-51064600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:51023000-51034400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:51023200-51035400	Weak transcription	Hela-S3	cervix
29	chr12:51023400-51034400	Weak transcription	Placenta	Placenta
30	chr12:51023600-51035200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:51023600-51035400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:51023800-51035200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:51024000-51034000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:51025600-51033400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51025800-51034600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:51025800-51035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:51026000-51035000	Weak transcription	Fetal Intestine Large	intestine
38	chr12:51026200-51034800	Weak transcription	Fetal Stomach	stomach
39	chr12:51026400-51035400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51026400-51035400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:51027200-51034600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:51027400-51032400	Enhancers	Brain Anterior Caudate	brain
43	chr12:51027400-51032600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:51027600-51033800	Weak transcription	Primary B cells from cord blood	blood
45	chr12:51027600-51034600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:51027800-51032200	Enhancers	Fetal Lung	lung
47	chr12:51027800-51032800	Enhancers	Brain Substantia Nigra	brain
48	chr12:51027800-51034400	Enhancers	Brain Hippocampus Middle	brain
49	chr12:51028000-51032400	Enhancers	A549	lung
50	chr12:51028400-51035200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links