Variant report

Variant	rs547782767
Chromosome Location	chr6:56915465-56915466
allele	A/G
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	chr6:56818841..56821468-chr6:56915321..56916838,2	K562	blood:
2	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
3	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
4	chr6:56913994..56915707-chr6:57036966..57038653,2	K562	blood:
5	chr6:56914118..56915699-chr6:56999791..57001754,2	K562	blood:
6	chr6:56913918..56916785-chr6:56951953..56954824,2	K562	blood:
7	chr6:56772967..56775962-chr6:56913388..56915663,2	K562	blood:
8	chr6:56818139..56821973-chr6:56914159..56916532,4	K562	blood:
9	chr6:56825122..56826633-chr6:56914497..56917347,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112208	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112200	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000151917	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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 miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv970684	chr6:56912349-56953340	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv2763988	chr6:56913072-56952630	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv603189	chr6:56913453-56950609	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv538230	chr6:56913943-56951703	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
5	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:56911600-56935200	Weak transcription	Gastric	stomach
7	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:56911800-56915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:56911800-56915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:56911800-56915800	Weak transcription	Lung	lung
11	chr6:56911800-56916400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:56911800-56916400	Weak transcription	Pancreas	Pancrea
13	chr6:56911800-56916400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
15	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
16	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
17	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
20	chr6:56913000-56916400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:56913000-56916400	Weak transcription	Spleen	Spleen
22	chr6:56913200-56915600	Weak transcription	Thymus	Thymus
23	chr6:56913200-56916400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:56913200-56916400	Weak transcription	Adipose Nuclei	Adipose
25	chr6:56913400-56915600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:56913400-56916400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:56913400-56921400	Strong transcription	HSMM	muscle
28	chr6:56913400-56924400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:56913400-56940600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:56913600-56915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:56913600-56915600	Weak transcription	Hela-S3	cervix
32	chr6:56913600-56916200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:56913600-56916200	Weak transcription	Ovary	ovary
34	chr6:56913600-56916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:56913600-56916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:56913600-56916800	Strong transcription	A549	lung
37	chr6:56913600-56917600	Weak transcription	Brain Angular Gyrus	brain
38	chr6:56913600-56919200	Weak transcription	Fetal Heart	heart
39	chr6:56913600-56920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:56913600-56921600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:56913600-56921800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:56913600-56924600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:56913600-56925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:56913600-56926600	Weak transcription	Small Intestine	intestine
45	chr6:56913600-56931600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:56913600-56934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:56913600-56941600	Weak transcription	Brain Anterior Caudate	brain
48	chr6:56913800-56918200	Weak transcription	NHLF	lung
49	chr6:56913800-56920600	Weak transcription	NHEK	skin
50	chr6:56913800-56928000	Strong transcription	Primary monocytes fromperipheralblood	blood

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