Variant report

Variant	rs9875038
Chromosome Location	chr3:49935194-49935195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49933351..49938041-chr3:49938966..49942332,9	K562	blood:
2	chr3:49927426..49930206-chr3:49934919..49938158,3	K562	blood:
3	chr3:49931195..49934171-chr3:49934397..49936093,2	K562	blood:

Variant related genes	Relation type
ENSG00000228008	Chromatin interaction
ENSG00000164078	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12330297	1.00[AFR][1000 genomes]
rs13316958	0.87[AFR][1000 genomes]
rs13317088	1.00[ASW][hapmap]
rs13318943	1.00[AFR][1000 genomes]
rs13323932	0.87[AFR][1000 genomes]
rs13324545	1.00[AFR][1000 genomes]
rs55968312	1.00[AFR][1000 genomes]
rs9811223	0.87[AFR][1000 genomes]
rs9819888	1.00[AFR][1000 genomes]
rs9825944	1.00[AFR][1000 genomes]
rs9828683	1.00[AFR][1000 genomes]
rs9835029	1.00[AFR][1000 genomes]
rs9835838	0.87[AFR][1000 genomes]
rs9835941	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9849605	1.00[AFR][1000 genomes]
rs9850145	0.87[AFR][1000 genomes]
rs9852055	0.86[AFR][1000 genomes]
rs9862830	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9863339	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9864231	1.00[AFR][1000 genomes]
rs9866016	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49919600-49937800	Weak transcription	Small Intestine	intestine
2	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
3	chr3:49920200-49938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:49920400-49938200	Weak transcription	Left Ventricle	heart
5	chr3:49920600-49938200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:49920600-49938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:49922600-49935400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:49924000-49936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:49924000-49937600	Strong transcription	Fetal Stomach	stomach
10	chr3:49924600-49937600	Weak transcription	K562	blood
11	chr3:49924800-49938200	Weak transcription	Right Ventricle	heart
12	chr3:49925200-49941200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:49926600-49938400	Weak transcription	Aorta	Aorta
14	chr3:49927000-49938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:49927400-49936800	Weak transcription	Fetal Thymus	thymus
16	chr3:49927400-49937600	Weak transcription	Placenta	Placenta
17	chr3:49927600-49940400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:49928600-49943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:49929000-49938400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:49929600-49941200	Weak transcription	Ovary	ovary
21	chr3:49930800-49935800	Strong transcription	NHEK	skin
22	chr3:49931400-49936200	Strong transcription	Gastric	stomach
23	chr3:49931400-49938400	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:49931400-49943600	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:49931800-49935800	Strong transcription	Hela-S3	cervix
26	chr3:49931800-49936400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:49931800-49936400	Strong transcription	Fetal Intestine Large	intestine
28	chr3:49931800-49936400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr3:49932000-49935600	Strong transcription	HMEC	breast
30	chr3:49932000-49935800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:49932000-49936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:49932400-49936400	Strong transcription	Fetal Intestine Small	intestine
33	chr3:49932400-49936400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:49932600-49935400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:49932600-49935400	Strong transcription	Spleen	Spleen
36	chr3:49932600-49935800	Strong transcription	Rectal Smooth Muscle	rectum
37	chr3:49932600-49936000	Strong transcription	Esophagus	oesophagus
38	chr3:49932600-49936000	Strong transcription	Lung	lung
39	chr3:49932600-49936200	Strong transcription	Colonic Mucosa	Colon
40	chr3:49933200-49938200	Weak transcription	Adipose Nuclei	Adipose
41	chr3:49933400-49935600	Strong transcription	Stomach Mucosa	stomach
42	chr3:49933400-49939600	Weak transcription	Fetal Brain Female	brain
43	chr3:49933800-49941400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:49934200-49938600	Weak transcription	Fetal Lung	lung
45	chr3:49934400-49941400	Weak transcription	Brain Angular Gyrus	brain
46	chr3:49934600-49936400	Weak transcription	Pancreas	Pancrea
47	chr3:49934800-49935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:49934800-49936800	Weak transcription	A549	lung
49	chr3:49935000-49935400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:49935000-49936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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