Variant report

Variant	rs35481257
Chromosome Location	chr3:49850696-49850697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr3:49850500-49851655	GM12878	blood:	n/a	n/a
2	MAZ	chr3:49850684-49850711	K562	blood:	n/a	n/a
3	ZEB1	chr3:49850625-49851134	GM12878	blood:	n/a	chr3:49850905-49850914

Variant related genes	Relation type
UBA7	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs34379671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34630302	1.00[AMR][1000 genomes]
rs41464448	1.00[AMR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6793856	1.00[AMR][1000 genomes]
rs6797615	1.00[AMR][1000 genomes]
rs6798832	1.00[AMR][1000 genomes]
rs6800591	1.00[AMR][1000 genomes]
rs6806073	1.00[AMR][1000 genomes]
rs72927503	1.00[AMR][1000 genomes]
rs72938200	1.00[AMR][1000 genomes]
rs7615240	1.00[AMR][1000 genomes]
rs7616171	1.00[AMR][1000 genomes]
rs7623582	1.00[AMR][1000 genomes]
rs7626820	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7633189	1.00[AMR][1000 genomes]
rs7634945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7637266	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7641976	1.00[AMR][1000 genomes]
rs7648632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	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
5	nsv967270	chr3:49845381-49870409	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49843400-49866400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49843600-49850800	Weak transcription	Psoas Muscle	Psoas
3	chr3:49845600-49850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:49845800-49850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:49846400-49850800	Weak transcription	Fetal Kidney	kidney
6	chr3:49846400-49850800	Weak transcription	K562	blood
7	chr3:49848600-49850800	Genic enhancers	Placenta	Placenta
8	chr3:49849600-49850800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:49849600-49850800	Weak transcription	Ovary	ovary
10	chr3:49849800-49850800	Enhancers	Left Ventricle	heart
11	chr3:49849800-49852000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:49850000-49850800	Enhancers	Fetal Muscle Trunk	muscle
13	chr3:49850000-49850800	Enhancers	Stomach Mucosa	stomach
14	chr3:49850000-49850800	Enhancers	HMEC	breast
15	chr3:49850000-49851000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr3:49850000-49851000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr3:49850000-49851200	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr3:49850000-49851800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr3:49850000-49852200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:49850200-49850800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:49850200-49850800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:49850200-49850800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr3:49850200-49851000	Flanking Active TSS	Spleen	Spleen
24	chr3:49850200-49851000	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:49850200-49851200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:49850200-49851200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:49850200-49851400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:49850200-49851800	Flanking Active TSS	Liver	Liver
29	chr3:49850200-49851800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr3:49850200-49851800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:49850200-49852000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:49850200-49852000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr3:49850200-49852000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr3:49850200-49852000	Flanking Active TSS	Dnd41	blood
35	chr3:49850400-49850800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:49850400-49850800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr3:49850400-49850800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:49850400-49850800	Active TSS	Brain Hippocampus Middle	brain
39	chr3:49850400-49850800	Enhancers	Brain Substantia Nigra	brain
40	chr3:49850400-49851200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr3:49850400-49851200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr3:49850400-49851200	Flanking Active TSS	Lung	lung
43	chr3:49850400-49851200	Flanking Active TSS	NHLF	lung
44	chr3:49850400-49851400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:49850400-49851600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:49850400-49851800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:49850400-49851800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr3:49850400-49851800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr3:49850400-49851800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:49850400-49851800	Flanking Active TSS	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links