Variant report

Variant	rs3729985
Chromosome Location	chr11:47372749-47372750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47371255..47374235-chr11:47398833..47401671,2	K562	blood:
2	chr11:47203691..47205967-chr11:47371684..47373838,2	K562	blood:
3	chr11:47289111..47291815-chr11:47370761..47372968,2	MCF-7	breast:
4	chr11:47183301..47185568-chr11:47370586..47372939,2	K562	blood:
5	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
6	chr11:47289275..47291603-chr11:47370124..47373215,3	K562	blood:

Variant related genes	Relation type
ENSG00000165912	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2697919	0.91[AMR][1000 genomes]
rs4752830	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61468175	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6485752	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47354800-47372800	Weak transcription	Gastric	stomach
4	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47368600-47374800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:47369800-47374400	Active TSS	Right Atrium	heart
7	chr11:47369800-47375600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47370000-47374800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:47370600-47373000	Transcr. at gene 5' and 3'	Right Ventricle	heart
10	chr11:47370800-47377000	Weak transcription	K562	blood
11	chr11:47371000-47373600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:47371200-47373000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:47371200-47376200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:47372000-47374400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:47372000-47374400	Bivalent Enhancer	HepG2	liver
17	chr11:47372200-47372800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:47372200-47373000	Transcr. at gene 5' and 3'	Left Ventricle	heart
19	chr11:47372200-47373400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:47372200-47373400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:47372200-47374200	Active TSS	Fetal Heart	heart
22	chr11:47372400-47372800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:47372400-47372800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:47372400-47372800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:47372400-47373000	Genic enhancers	Spleen	Spleen
26	chr11:47372400-47373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:47372400-47374000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:47372600-47373800	Enhancers	Placenta	Placenta
29	chr11:47372600-47374600	Enhancers	Pancreas	Pancrea
30	chr11:47372600-47376200	Weak transcription	Fetal Muscle Leg	muscle

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