Variant report

Variant	rs28626048
Chromosome Location	chr3:51712668-51712669
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51704201..51711015-chr3:51712254..51717093,7	K562	blood:
2	chr3:51704380..51708267-chr3:51709236..51713754,5	K562	blood:
3	chr3:51425871..51428419-chr3:51712494..51715016,3	K562	blood:
4	chr3:51711799..51714156-chr3:51719027..51720830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164081	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13316894	1.00[AMR][1000 genomes]
rs13317936	1.00[AMR][1000 genomes]
rs13321111	1.00[AMR][1000 genomes]
rs13322621	1.00[AMR][1000 genomes]
rs13327225	0.90[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28454463	1.00[AMR][1000 genomes]
rs6777506	1.00[AMR][1000 genomes]
rs6779163	1.00[AMR][1000 genomes]
rs6806124	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7627636	0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7635546	1.00[AMR][1000 genomes]
rs9812682	1.00[AMR][1000 genomes]
rs9826415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9828325	1.00[AMR][1000 genomes]
rs9829002	1.00[AMR][1000 genomes]
rs9841963	1.00[AMR][1000 genomes]
rs9846343	1.00[AMR][1000 genomes]
rs9853900	1.00[AMR][1000 genomes]
rs9855214	1.00[AMR][1000 genomes]
rs9868612	1.00[AMR][1000 genomes]
rs9875513	1.00[AMR][1000 genomes]
rs9878053	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706200-51712800	Weak transcription	Aorta	Aorta
2	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:51706600-51714000	Weak transcription	Right Atrium	heart
5	chr3:51706600-51715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:51706600-51716600	Weak transcription	A549	lung
7	chr3:51706600-51719800	Weak transcription	Psoas Muscle	Psoas
8	chr3:51706600-51721200	Weak transcription	Fetal Brain Male	brain
9	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
11	chr3:51706800-51712800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:51706800-51714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:51706800-51715200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:51706800-51715400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:51706800-51715600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:51707000-51714600	Weak transcription	Hela-S3	cervix
17	chr3:51707000-51715600	Weak transcription	K562	blood
18	chr3:51707200-51712800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:51707600-51714400	Weak transcription	Stomach Mucosa	stomach
20	chr3:51707600-51714600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:51707800-51714800	Weak transcription	Fetal Heart	heart
22	chr3:51707800-51715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:51707800-51716000	Weak transcription	Fetal Kidney	kidney
24	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
25	chr3:51708000-51713200	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr3:51708000-51714400	Strong transcription	Fetal Muscle Leg	muscle
27	chr3:51708000-51714800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:51708000-51715600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:51708000-51718600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:51708200-51712800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:51708200-51713800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:51708200-51713800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:51708200-51714000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr3:51708200-51714200	Strong transcription	Adipose Nuclei	Adipose
35	chr3:51708200-51714800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:51708200-51715400	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr3:51708200-51715400	Genic enhancers	Spleen	Spleen
38	chr3:51708200-51715600	Strong transcription	Fetal Stomach	stomach
39	chr3:51708400-51712800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:51708400-51713000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:51708400-51713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:51708400-51713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:51708400-51714000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:51708400-51714200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr3:51708400-51715200	Genic enhancers	Primary T cells from cord blood	blood
46	chr3:51708800-51713200	Strong transcription	Liver	Liver
47	chr3:51708800-51713800	Strong transcription	Primary B cells from cord blood	blood
48	chr3:51708800-51714600	Strong transcription	Thymus	Thymus
49	chr3:51708800-51738800	Strong transcription	Fetal Intestine Large	intestine
50	chr3:51709000-51714200	Strong transcription	Brain Hippocampus Middle	brain

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