Variant report

Variant	rs56657958
Chromosome Location	chr6:34211764-34211765
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34130364..34132729-chr6:34211650..34213705,2	K562	blood:
2	chr6:34209957..34213576-chr6:34391054..34395241,3	MCF-7	breast:
3	chr10:57012609..57015608-chr6:34209555..34212466,2	K562	blood:
4	chr6:34210941..34212491-chr6:34389886..34392402,2	K562	blood:
5	chr5:179124987..179127457-chr6:34211681..34214142,2	K562	blood:
6	chr6:34190794..34193339-chr6:34210453..34212412,2	MCF-7	breast:
7	chr6:34209711..34212702-chr6:34323551..34325393,2	MCF-7	breast:
8	chr6:34211137..34213160-chr6:34384345..34386352,2	MCF-7	breast:
9	chr6:34209391..34211783-chr6:34743320..34745322,2	K562	blood:
10	chr6:34149535..34152923-chr6:34209211..34212151,3	K562	blood:
11	chr6:34211149..34214132-chr6:34498415..34499975,2	K562	blood:
12	chr6:34210451..34213442-chr6:34245381..34247786,2	K562	blood:
13	chr6:34209704..34212445-chr6:34360073..34361578,2	MCF-7	breast:
14	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
15	chr6:34149447..34151035-chr6:34209957..34212126,2	K562	blood:
16	chr6:34143529..34145401-chr6:34209806..34212662,2	K562	blood:
17	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:
18	chr6:34211075..34213975-chr6:34293539..34295435,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272325	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000225339	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000124614	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10947487	0.83[AMR][1000 genomes]
rs1187129	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1187130	0.81[ASN][1000 genomes]
rs1307274	0.81[ASN][1000 genomes]
rs1759628	0.82[AMR][1000 genomes]
rs1776891	0.84[AMR][1000 genomes]
rs1776899	0.84[AMR][1000 genomes]
rs28539536	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4711389	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713761	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713766	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6909732	0.88[AMR][1000 genomes]
rs6911780	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932690	0.88[AMR][1000 genomes]
rs73419191	0.82[AMR][1000 genomes]
rs7740907	0.86[AMR][1000 genomes]
rs7753987	0.88[AMR][1000 genomes]
rs7761883	0.83[AMR][1000 genomes]
rs928482	0.89[AMR][1000 genomes]
rs9348936	0.82[AMR][1000 genomes]
rs9394200	0.86[AMR][1000 genomes]
rs9394202	0.83[AMR][1000 genomes]
rs9461968	0.85[AMR][1000 genomes]
rs9461969	0.85[AMR][1000 genomes]
rs9469750	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv602865	chr6:34203406-34217181	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34205400-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:34206000-34212000	Weak transcription	Ovary	ovary
3	chr6:34206200-34212600	Weak transcription	Aorta	Aorta
4	chr6:34206400-34215800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:34206400-34216000	Weak transcription	Fetal Kidney	kidney
6	chr6:34206400-34216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:34207000-34212000	Weak transcription	Psoas Muscle	Psoas
8	chr6:34207000-34212600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:34207200-34215000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:34207600-34212200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
11	chr6:34207600-34212400	Genic enhancers	Fetal Thymus	thymus
12	chr6:34207600-34213600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:34207600-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:34207800-34215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:34207800-34215600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:34207800-34215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:34208200-34212000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:34208200-34212000	Genic enhancers	NHLF	lung
19	chr6:34208200-34212600	Genic enhancers	H1 Cell Line	embryonic stem cell
20	chr6:34208200-34214200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:34208400-34211800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:34208400-34211800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:34208400-34211800	Genic enhancers	K562	blood
24	chr6:34208400-34212000	Weak transcription	Fetal Heart	heart
25	chr6:34208400-34212600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:34208400-34213200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:34208400-34214200	Strong transcription	Fetal Brain Female	brain
28	chr6:34208600-34212000	Strong transcription	Fetal Stomach	stomach
29	chr6:34208600-34212000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:34208600-34212200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:34208600-34212400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:34208600-34212600	Genic enhancers	GM12878-XiMat	blood
33	chr6:34208600-34212800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:34208600-34213200	Strong transcription	Brain Germinal Matrix	brain
35	chr6:34208800-34211800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr6:34208800-34212200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:34208800-34215000	Strong transcription	Fetal Intestine Small	intestine
38	chr6:34209000-34212800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:34209400-34211800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:34209400-34212000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:34209400-34212400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:34209400-34213400	Strong transcription	Thymus	Thymus
43	chr6:34209600-34211800	Strong transcription	Fetal Intestine Large	intestine
44	chr6:34209600-34212400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr6:34209600-34214600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:34209800-34212200	Weak transcription	Brain Angular Gyrus	brain
47	chr6:34209800-34212600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:34209800-34212600	Genic enhancers	HepG2	liver
49	chr6:34209800-34212800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:34209800-34214000	Strong transcription	Dnd41	blood

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