Variant report

Variant	rs57669893
Chromosome Location	chr11:68278672-68278673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68228299..68230077-chr11:68277206..68279968,2	K562	blood:
2	chr11:68269770..68272509-chr11:68278381..68280834,2	K562	blood:
3	chr11:68277880..68279526-chr11:68284707..68286810,2	K562	blood:
4	chr11:68227675..68229649-chr11:68277691..68279303,2	MCF-7	breast:
5	chr11:68277247..68280237-chr11:68281638..68283353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11824970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280773	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs12294855	1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs34009811	1.00[AMR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs55748366	1.00[AMR][1000 genomes]
rs55859249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55932241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56715418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56748492	1.00[EUR][1000 genomes]
rs57488954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57557564	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60170908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs73513277	1.00[EUR][1000 genomes]
rs754418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:68265600-68280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:68266200-68279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:68267000-68280000	Weak transcription	Thymus	Thymus
7	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:68268000-68279400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:68271200-68279600	Weak transcription	Placenta	Placenta
15	chr11:68271200-68280400	Weak transcription	Fetal Intestine Large	intestine
16	chr11:68271200-68281600	Weak transcription	Fetal Stomach	stomach
17	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
18	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
19	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:68271600-68280000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:68271600-68280400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:68271600-68280400	Weak transcription	Lung	lung
23	chr11:68271600-68280400	Weak transcription	HUVEC	blood vessel
24	chr11:68271600-68280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
27	chr11:68272200-68283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:68272400-68280200	Weak transcription	Gastric	stomach
29	chr11:68272400-68280400	Weak transcription	Pancreas	Pancrea
30	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
31	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
32	chr11:68272400-68289400	Weak transcription	NHLF	lung
33	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:68272600-68284200	Weak transcription	A549	lung
35	chr11:68272800-68280400	Weak transcription	Liver	Liver
36	chr11:68273800-68283000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:68273800-68288600	Weak transcription	HSMMtube	muscle
38	chr11:68274400-68281400	Weak transcription	GM12878-XiMat	blood
39	chr11:68274400-68296000	Weak transcription	Stomach Mucosa	stomach
40	chr11:68274600-68279000	Weak transcription	HepG2	liver
41	chr11:68274600-68279400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:68274600-68279400	Weak transcription	K562	blood
43	chr11:68275200-68279200	Weak transcription	Small Intestine	intestine
44	chr11:68275400-68280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:68275600-68279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:68275800-68279600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:68275800-68280000	Enhancers	Colon Smooth Muscle	Colon
48	chr11:68275800-68281200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:68275800-68281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:68275800-68282000	Enhancers	Skeletal Muscle Male	skeletal muscle

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