Variant report

Variant	rs6683844
Chromosome Location	chr1:193095246-193095247
allele	G/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193027777..193030093-chr1:193094452..193096655,2	MCF-7	breast:
2	chr1:193089959..193094995-chr1:193095229..193100634,8	MCF-7	breast:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193089388..193093802-chr1:193093867..193102021,11	MCF-7	breast:
5	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
6	chr1:193094983..193097792-chr1:193109344..193111694,2	K562	blood:
7	chr1:193095238..193099348-chr1:193099443..193102789,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16835169	0.83[AMR][1000 genomes]
rs56067713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665739	0.83[AMR][1000 genomes]
rs6665751	0.83[AMR][1000 genomes]
rs6682435	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687899	0.91[YRI][hapmap]
rs74130921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130925	0.83[AMR][1000 genomes]
rs74130927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130929	0.83[AMR][1000 genomes]
rs74130930	0.83[AMR][1000 genomes]
rs74130931	0.93[AFR][1000 genomes]
rs7531808	0.81[AFR][1000 genomes]
rs7553830	0.91[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193096000	Weak transcription	Colonic Mucosa	Colon
2	chr1:193092600-193099400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:193092600-193099400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:193092600-193108000	Weak transcription	Gastric	stomach
5	chr1:193092600-193109400	Weak transcription	Esophagus	oesophagus
6	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:193092800-193095600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:193092800-193099600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:193092800-193099600	Weak transcription	Psoas Muscle	Psoas
10	chr1:193092800-193099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
12	chr1:193093200-193098400	Weak transcription	Right Ventricle	heart
13	chr1:193093200-193099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:193093200-193099400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:193093400-193098800	Weak transcription	Primary B cells from cord blood	blood
16	chr1:193093400-193099400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:193093400-193099800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:193093600-193099000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:193093800-193097000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:193093800-193098000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:193093800-193098800	Weak transcription	NHLF	lung
22	chr1:193093800-193099200	Weak transcription	Fetal Brain Male	brain
23	chr1:193093800-193099400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:193093800-193099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:193093800-193099400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:193093800-193099400	Weak transcription	HSMMtube	muscle
27	chr1:193093800-193099600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:193093800-193099600	Weak transcription	Fetal Heart	heart
29	chr1:193093800-193103400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:193093800-193105800	Weak transcription	Right Atrium	heart
31	chr1:193093800-193109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
34	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:193094000-193095400	Genic enhancers	K562	blood
36	chr1:193094000-193097400	Weak transcription	Primary T cells from cord blood	blood
37	chr1:193094000-193098800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:193094000-193099000	Weak transcription	NHDF-Ad	bronchial
39	chr1:193094000-193099400	Weak transcription	Fetal Kidney	kidney
40	chr1:193094000-193099600	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:193094000-193099800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:193094000-193101600	Strong transcription	Fetal Intestine Large	intestine
43	chr1:193094000-193103600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:193094200-193095600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:193094200-193095600	Strong transcription	Placenta	Placenta
48	chr1:193094200-193096200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:193094200-193096400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:193094200-193096400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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