Variant report

Variant	rs10947489
Chromosome Location	chr6:34213565-34213566
allele	A/C
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34211942..34216855-chr6:34244859..34247946,7	K562	blood:
2	chr6:34130364..34132729-chr6:34211650..34213705,2	K562	blood:
3	chr6:34209957..34213576-chr6:34391054..34395241,3	MCF-7	breast:
4	chr6:34023047..34025641-chr6:34212999..34215804,2	K562	blood:
5	chr6:34212455..34215042-chr6:34392367..34394205,2	MCF-7	breast:
6	chr6:34155620..34158015-chr6:34212823..34214420,2	K562	blood:
7	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
8	chr6:34213271..34215181-chr6:34223705..34225638,2	K562	blood:
9	chr5:179124987..179127457-chr6:34211681..34214142,2	K562	blood:
10	chr6:34124050..34126623-chr6:34212069..34213756,2	K562	blood:
11	chr12:110865623..110868620-chr6:34212515..34214482,4	K562	blood:
12	chr22:43011046..43012650-chr6:34212802..34215744,2	K562	blood:
13	chr6:34213313..34215727-chr6:34426612..34429528,2	K562	blood:
14	chr6:33677926..33679506-chr6:34212511..34214357,2	K562	blood:
15	chr6:34212832..34215657-chr6:34236331..34238214,2	K562	blood:
16	chr6:34211149..34214132-chr6:34498415..34499975,2	K562	blood:
17	chr6:34213440..34216386-chr6:34253142..34255941,3	K562	blood:
18	chr6:34213271..34216140-chr6:34224138..34225758,2	K562	blood:
19	chr6:33677926..33680959-chr6:34212857..34215547,3	K562	blood:
20	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
21	chr6:34213292..34215169-chr6:34359250..34362053,2	MCF-7	breast:
22	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:
23	chr6:34211075..34213975-chr6:34293539..34295435,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270022	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000225339	Chromatin interaction
ENSG00000271231	Chromatin interaction
ENSG00000258011	Chromatin interaction
ENSG00000124614	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7341244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	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:123 , 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	chr6:34206400-34215800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:34206400-34216000	Weak transcription	Fetal Kidney	kidney
4	chr6:34206400-34216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34207200-34215000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:34207600-34213600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:34207600-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:34207800-34215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34207800-34215600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:34207800-34215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:34208200-34214200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:34208400-34214200	Strong transcription	Fetal Brain Female	brain
13	chr6:34208800-34215000	Strong transcription	Fetal Intestine Small	intestine
14	chr6:34209600-34214600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:34209800-34214000	Strong transcription	Dnd41	blood
16	chr6:34210200-34215800	Weak transcription	Pancreas	Pancrea
17	chr6:34210400-34215800	Weak transcription	Liver	Liver
18	chr6:34210600-34214000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:34211000-34213800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr6:34211000-34214200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:34211000-34214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:34211200-34214000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:34211400-34214200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:34211600-34213600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:34211600-34214000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:34211800-34214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:34211800-34214000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:34211800-34214200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:34211800-34214400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:34211800-34215800	Weak transcription	Primary T cells from cord blood	blood
31	chr6:34211800-34215800	Weak transcription	Fetal Intestine Large	intestine
32	chr6:34212000-34215600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:34212200-34213600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:34212200-34214000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:34212200-34215400	Enhancers	NH-A	brain
36	chr6:34212200-34215600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:34212400-34213800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:34212400-34214000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:34212400-34214000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:34212400-34214000	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:34212400-34214200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:34212400-34214200	Strong transcription	Fetal Thymus	thymus
43	chr6:34212400-34214200	Enhancers	HSMM	muscle
44	chr6:34212400-34214200	Enhancers	NHEK	skin
45	chr6:34212400-34214400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:34212400-34214600	Weak transcription	Brain Substantia Nigra	brain
47	chr6:34212400-34214600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:34212400-34214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:34212400-34215400	Weak transcription	Brain Angular Gyrus	brain
50	chr6:34212400-34215400	Weak transcription	Colon Smooth Muscle	Colon

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