Variant report

Variant	rs10227608
Chromosome Location	chr7:128215623-128215624
allele	A/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	CEBPB	chr7:128215391-128215634	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000213280	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10085435	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223975	0.81[EUR][1000 genomes]
rs10231136	0.81[EUR][1000 genomes]
rs10233059	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241185	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250369	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259359	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270431	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270985	0.83[AMR][1000 genomes]
rs10272840	0.82[AFR][1000 genomes]
rs10954205	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11760285	1.00[ASN][1000 genomes]
rs11766319	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768485	0.80[EUR][1000 genomes]
rs11769546	1.00[ASN][1000 genomes]
rs11771884	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333625	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537208	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224613	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13226592	0.81[EUR][1000 genomes]
rs13235219	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247746	0.81[EUR][1000 genomes]
rs28496126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521711	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34120723	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34125589	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34490491	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34751214	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34757247	0.81[AFR][1000 genomes]
rs34887739	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247963	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35603038	0.85[AFR][1000 genomes]
rs35871589	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3816421	0.86[EUR][1000 genomes]
rs4289745	0.84[EUR][1000 genomes]
rs55953818	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60029447	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654313	0.85[AFR][1000 genomes]
rs6467181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467184	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467201	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6958343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960296	0.84[EUR][1000 genomes]
rs6961754	0.81[EUR][1000 genomes]
rs6963982	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967393	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971819	0.80[EUR][1000 genomes]
rs71546785	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546786	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546790	0.84[AFR][1000 genomes]
rs71578280	1.00[ASN][1000 genomes]
rs7776915	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778169	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7786772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787764	0.83[EUR][1000 genomes]
rs7790839	0.86[AFR][1000 genomes]
rs7798172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9690225	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690934	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9692416	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9768808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9769753	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][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	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv1810084	chr7:128201902-128248697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1829966	chr7:128201902-128248697	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1847512	chr7:128201902-128248697	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3478067	chr7:128209147-128216052	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3478068	chr7:128209147-128216052	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv966885	chr7:128212815-128256300	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10227608	CICP14	cis	Thyroid	GTEx
rs10227608	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs10227608	METTL2B	cis	Artery Tibial	GTEx
rs10227608	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10227608	CICP14	cis	Muscle Skeletal	GTEx
rs10227608	RP11-274B21.10	cis	Thyroid	GTEx
rs10227608	CICP14	cis	lung	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
2	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
3	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
4	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:128174000-128220600	Weak transcription	NHLF	lung
6	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
9	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
11	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
12	chr7:128187600-128232000	Weak transcription	NH-A	brain
13	chr7:128188000-128220800	Weak transcription	NHEK	skin
14	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
15	chr7:128188200-128229800	Weak transcription	HSMM	muscle
16	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood
17	chr7:128188400-128231200	Weak transcription	Pancreas	Pancrea
18	chr7:128188800-128231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:128189200-128220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:128190600-128220400	Weak transcription	NHDF-Ad	bronchial
21	chr7:128191200-128226000	Weak transcription	Ovary	ovary
22	chr7:128191400-128220600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:128191400-128232000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:128199400-128231800	Weak transcription	HSMMtube	muscle
26	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
27	chr7:128201600-128225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:128201600-128225600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:128205200-128231800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:128205400-128224600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:128207000-128215800	Strong transcription	Fetal Intestine Small	intestine
33	chr7:128208200-128233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:128208800-128231800	Weak transcription	HMEC	breast
35	chr7:128208800-128232600	Weak transcription	Brain Substantia Nigra	brain
36	chr7:128209400-128220200	Weak transcription	A549	lung
37	chr7:128211000-128220000	Weak transcription	Spleen	Spleen
38	chr7:128211000-128220200	Weak transcription	Primary B cells from cord blood	blood
39	chr7:128211000-128220400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:128211000-128231800	Weak transcription	Psoas Muscle	Psoas
41	chr7:128212800-128233000	Weak transcription	Brain Germinal Matrix	brain
42	chr7:128213200-128231800	Weak transcription	Brain Angular Gyrus	brain
43	chr7:128213400-128231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:128213400-128238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:128213600-128215800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:128213600-128216000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:128213800-128215800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:128213800-128215800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:128213800-128215800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:128213800-128215800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links