Variant report

Variant	rs1187129
Chromosome Location	chr6:34239989-34239990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34239505..34241524-chr6:34360181..34361752,2	K562	blood:
2	chr6:34215632..34219561-chr6:34237881..34242839,8	K562	blood:
3	chr6:34238995..34241541-chr6:34307534..34310949,3	K562	blood:
4	chr6:34238533..34240637-chr6:34244749..34247653,3	MCF-7	breast:
5	chr6:34239800..34242616-chr6:34243635..34245743,3	K562	blood:
6	chr6:34203242..34206632-chr6:34239614..34242822,4	K562	blood:
7	chr6:34239719..34243509-chr6:34291067..34294837,5	K562	blood:
8	chr6:34202535..34207128-chr6:34239118..34243057,8	K562	blood:
9	chr6:34238750..34240601-chr6:34358769..34361723,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225339	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1187130	0.82[ASN][1000 genomes]
rs1307274	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1776891	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28539536	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4711389	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713761	0.86[AMR][1000 genomes]
rs4713766	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56657958	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60952447	0.87[AMR][1000 genomes]
rs6911780	0.85[ASN][1000 genomes]
rs73419191	0.82[AMR][1000 genomes]
rs7740907	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7761883	0.83[AMR][1000 genomes]
rs9394202	0.80[AMR][1000 genomes]
rs9461968	0.80[AMR][1000 genomes]
rs9461969	0.80[AMR][1000 genomes]
rs9469750	0.80[AMR][1000 genomes]
rs9469762	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv969388	chr6:34213490-34240324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34218200-34255000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:34227000-34241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:34228600-34247000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34229000-34246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:34231200-34241000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:34231200-34241200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:34231200-34246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:34233000-34251800	Weak transcription	NHDF-Ad	bronchial
9	chr6:34233200-34245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:34234200-34247600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:34235800-34245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:34237000-34246600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:34238000-34240000	Weak transcription	Spleen	Spleen
14	chr6:34238400-34259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:34239000-34247600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:34239200-34240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:34239200-34242200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:34239200-34246000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:34239400-34240000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:34239400-34240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:34239400-34240800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:34239400-34241000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:34239400-34241400	Weak transcription	Right Atrium	heart
24	chr6:34239600-34240600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:34239600-34240600	Enhancers	Fetal Muscle Leg	muscle
26	chr6:34239600-34240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:34239600-34241800	Enhancers	Placenta	Placenta
28	chr6:34239600-34242000	Enhancers	Primary B cells from cord blood	blood
29	chr6:34239600-34242000	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:34239600-34242000	Enhancers	Adipose Nuclei	Adipose
31	chr6:34239600-34247000	Weak transcription	Fetal Brain Female	brain
32	chr6:34239800-34240800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:34239800-34241000	Enhancers	K562	blood
34	chr6:34239800-34241600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:34239800-34242200	Enhancers	GM12878-XiMat	blood
36	chr6:34239800-34242200	Enhancers	HUVEC	blood vessel
37	chr6:34239800-34245400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links