Variant report

Variant	rs10742774
Chromosome Location	chr11:45977590-45977591
allele	A/C
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	SETDB1	chr11:45977378-45977818	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
PHF21A	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10769176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769179	0.87[AMR][1000 genomes]
rs10838535	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10838541	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038716	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11038720	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs11038723	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038739	0.95[CEU][hapmap]
rs11038742	0.95[CEU][hapmap]
rs11038743	0.95[CEU][hapmap]
rs1125290	0.87[JPT][hapmap]
rs1125291	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12277800	0.86[AMR][1000 genomes]
rs1996573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945999	0.81[JPT][hapmap]
rs2946003	0.87[JPT][hapmap]
rs2959087	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs2959090	0.87[JPT][hapmap]
rs2959091	0.87[JPT][hapmap]
rs2959099	0.87[JPT][hapmap]
rs4144718	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs4237659	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4237660	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs4756044	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756045	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6485654	0.90[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7108186	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs7128184	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7926314	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7948502	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7950336	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs7950391	0.95[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs939107	1.00[CEU][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45952400-45996200	Weak transcription	Stomach Mucosa	stomach
2	chr11:45953000-45988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45954000-45978800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:45957600-45986400	Weak transcription	HMEC	breast
7	chr11:45957800-45986400	Weak transcription	NHEK	skin
8	chr11:45958600-45979000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:45958800-45979000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:45960400-45986600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:45962000-45978800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:45962200-45978400	Strong transcription	Primary T cells from cord blood	blood
13	chr11:45962600-45979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:45963200-45977600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:45966400-45979000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:45967600-46004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:45967800-45977600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:45968000-45985800	Weak transcription	K562	blood
19	chr11:45969800-45983400	Weak transcription	Fetal Heart	heart
20	chr11:45970400-45985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:45970600-45983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:45970600-45986200	Weak transcription	NHLF	lung
23	chr11:45970600-45986600	Weak transcription	Pancreas	Pancrea
24	chr11:45970600-45986800	Weak transcription	HepG2	liver
25	chr11:45970800-45983000	Weak transcription	Fetal Brain Female	brain
26	chr11:45970800-45989200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:45970800-45990400	Weak transcription	NHDF-Ad	bronchial
28	chr11:45971000-45977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:45971000-45983400	Weak transcription	Right Ventricle	heart
30	chr11:45971000-45985800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:45971000-45986800	Weak transcription	Gastric	stomach
32	chr11:45971000-45990000	Weak transcription	Colonic Mucosa	Colon
33	chr11:45971000-45990600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:45971000-45992400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:45971200-45985200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:45971200-45986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:45971200-45989600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:45971200-45992400	Weak transcription	Small Intestine	intestine
39	chr11:45971400-45981600	Weak transcription	Fetal Kidney	kidney
40	chr11:45971400-45990800	Weak transcription	HUVEC	blood vessel
41	chr11:45971600-45981000	Weak transcription	A549	lung
42	chr11:45971600-45986600	Weak transcription	Fetal Brain Male	brain
43	chr11:45971800-45977600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:45971800-45991400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:45972000-45981000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:45972000-45982000	Weak transcription	Brain Angular Gyrus	brain
47	chr11:45972000-45983200	Weak transcription	Esophagus	oesophagus
48	chr11:45972000-45986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:45972000-45986800	Weak transcription	Aorta	Aorta
50	chr11:45972000-45989000	Weak transcription	Brain Cingulate Gyrus	brain

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