Variant report

Variant	rs1792197
Chromosome Location	chr11:73585860-73585861
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	POLR2A	chr11:73585707-73586807	K562	blood:	n/a	n/a
2	POLR2A	chr11:73585758-73588498	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:73584983-73586623	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73584965..73587189-chr11:73691735..73694698,2	K562	blood:
2	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
3	chr11:73585766..73589510-chr11:73599101..73602813,5	MCF-7	breast:

Variant related genes	Relation type
COA4	TF binding region
PAAF1	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1466218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1531001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598044	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1618529	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1623476	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670538	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670553	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1670555	0.91[AFR][1000 genomes]
rs1670560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670571	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670574	0.93[AFR][1000 genomes]
rs1723834	0.83[AFR][1000 genomes]
rs17244671	1.00[EUR][1000 genomes]
rs17310409	0.93[EUR][1000 genomes]
rs1792157	0.86[AFR][1000 genomes]
rs1792164	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792185	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792189	0.91[AFR][1000 genomes]
rs1792194	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792202	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2444602	0.96[AFR][1000 genomes]
rs2462617	0.83[AFR][1000 genomes]
rs2511262	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes]
rs2511275	0.93[AFR][1000 genomes]
rs2515090	0.82[AFR][1000 genomes]
rs2515091	0.86[AFR][1000 genomes]
rs2515095	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2886812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2924504	1.00[AFR][1000 genomes]
rs3019137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35133035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4548648	0.83[AFR][1000 genomes]
rs627627	1.00[AFR][1000 genomes]
rs651833	1.00[AFR][1000 genomes]
rs7480464	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs935989	0.86[AFR][1000 genomes]
rs9651759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic 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 target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:73571400-73586000	Weak transcription	Right Atrium	heart
3	chr11:73571600-73586200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:73573000-73586200	Weak transcription	Fetal Brain Male	brain
5	chr11:73575400-73586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73576400-73586000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:73578000-73586400	Weak transcription	Fetal Heart	heart
8	chr11:73578800-73586200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:73579200-73586400	Weak transcription	Small Intestine	intestine
10	chr11:73579400-73586200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73579600-73586000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:73579600-73586000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:73579600-73586000	Strong transcription	Fetal Thymus	thymus
14	chr11:73579600-73586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:73579600-73586200	Strong transcription	Fetal Stomach	stomach
16	chr11:73579600-73586200	Strong transcription	Thymus	Thymus
17	chr11:73579800-73586200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:73579800-73586200	Strong transcription	Fetal Lung	lung
19	chr11:73580200-73586200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:73580200-73586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:73580200-73586600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:73580400-73586200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:73580400-73586200	Strong transcription	Primary T cells from cord blood	blood
24	chr11:73580400-73586200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:73580400-73586200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:73580800-73586200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:73580800-73586600	Weak transcription	Stomach Mucosa	stomach
28	chr11:73581200-73586000	Strong transcription	A549	lung
29	chr11:73581400-73586000	Strong transcription	Fetal Intestine Small	intestine
30	chr11:73581400-73586400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73581600-73586000	Strong transcription	Liver	Liver
32	chr11:73581600-73586000	Strong transcription	Fetal Intestine Large	intestine
33	chr11:73581600-73586200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:73581600-73586200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:73581800-73586200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:73582200-73586200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:73582200-73586200	Strong transcription	Osteobl	bone
38	chr11:73582400-73586000	Strong transcription	NHLF	lung
39	chr11:73582400-73586200	Strong transcription	Brain Germinal Matrix	brain
40	chr11:73582400-73586400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:73582600-73586200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:73582600-73586200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:73583200-73586200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:73584000-73586000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73584000-73586400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:73584200-73586000	Weak transcription	HUVEC	blood vessel
47	chr11:73584400-73586000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:73584400-73586000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:73584400-73586200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:73584400-73586400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links