Variant report

Variant	rs57438678
Chromosome Location	chr11:71747376-71747377
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71746982..71749089-chr11:71749432..71752841,3	K562	blood:
2	chr11:71747243..71750049-chr11:71758322..71761194,3	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71746829..71748354-chr11:71822732..71825206,2	MCF-7	breast:
5	chr11:71747169..71749806-chr11:71758394..71761194,2	K562	blood:

Variant related genes	Relation type
ENSG00000212089	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs36029905	1.00[AFR][1000 genomes]
rs57920810	0.84[AFR][1000 genomes]
rs57956403	1.00[AFR][1000 genomes]
rs60163837	1.00[AFR][1000 genomes]
rs61378805	1.00[AMR][1000 genomes]
rs73531963	0.88[AFR][1000 genomes]
rs73531984	0.88[AFR][1000 genomes]
rs73533756	1.00[AFR][1000 genomes]
rs73533759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537512	0.84[AFR][1000 genomes]
rs73537523	1.00[AFR][1000 genomes]
rs73539517	1.00[AFR][1000 genomes]
rs73543608	0.89[AFR][1000 genomes]
rs73543620	0.89[AFR][1000 genomes]
rs73543646	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:71711000-71748800	Strong transcription	Dnd41	blood
4	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
5	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:71725600-71747400	Strong transcription	Thymus	Thymus
7	chr11:71727800-71750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:71730600-71748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:71735400-71750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:71735800-71750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71736400-71748000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:71736600-71747800	Strong transcription	Primary B cells from cord blood	blood
13	chr11:71736600-71748000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:71737400-71748000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:71737800-71747600	Strong transcription	Placenta	Placenta
16	chr11:71738000-71748200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:71738600-71749600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:71739400-71747600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:71740200-71747400	Weak transcription	Fetal Heart	heart
20	chr11:71740400-71747800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:71740400-71748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:71740400-71750000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:71740400-71750400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:71740600-71747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:71740600-71747800	Weak transcription	Esophagus	oesophagus
26	chr11:71741400-71747600	Strong transcription	Osteobl	bone
27	chr11:71741600-71747800	Strong transcription	GM12878-XiMat	blood
28	chr11:71742000-71747600	Weak transcription	Psoas Muscle	Psoas
29	chr11:71742200-71747400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:71742200-71747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:71742200-71747600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:71742400-71747600	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:71743200-71747400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:71743400-71747400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:71743400-71747600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:71743400-71747800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:71743600-71747800	Strong transcription	Liver	Liver
38	chr11:71743600-71748800	Weak transcription	NHLF	lung
39	chr11:71744200-71747400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:71744200-71747800	Strong transcription	Fetal Kidney	kidney
41	chr11:71744200-71748200	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr11:71744200-71748200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:71744200-71748600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:71744400-71747400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:71744400-71747600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:71744400-71747600	Strong transcription	HepG2	liver
47	chr11:71744400-71748200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr11:71744600-71747400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:71744600-71747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:71744600-71747800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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