Variant report

Variant	rs3814397
Chromosome Location	chr3:119242258-119242259
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119220784..119223017-chr3:119241149..119243066,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1060569	0.91[ASN][1000 genomes]
rs13080905	0.85[ASN][1000 genomes]
rs1797839	0.97[ASN][1000 genomes]
rs1900742	0.86[ASN][1000 genomes]
rs1919586	0.86[ASN][1000 genomes]
rs1919590	0.86[ASN][1000 genomes]
rs1967621	0.91[ASN][1000 genomes]
rs1976919	0.91[ASN][1000 genomes]
rs2177812	0.91[ASN][1000 genomes]
rs3732413	0.86[ASN][1000 genomes]
rs4687855	0.86[ASN][1000 genomes]
rs4687860	0.85[ASN][1000 genomes]
rs4688005	0.86[ASN][1000 genomes]
rs4688007	0.86[ASN][1000 genomes]
rs4688008	0.91[ASN][1000 genomes]
rs4688012	0.91[ASN][1000 genomes]
rs4688014	0.81[ASN][1000 genomes]
rs6414282	0.83[ASN][1000 genomes]
rs6414283	0.86[ASN][1000 genomes]
rs6438528	0.85[ASN][1000 genomes]
rs6438529	0.86[ASN][1000 genomes]
rs6438530	0.86[ASN][1000 genomes]
rs6438531	0.86[ASN][1000 genomes]
rs6438535	0.91[ASN][1000 genomes]
rs6777535	0.85[ASN][1000 genomes]
rs6778945	0.98[ASN][1000 genomes]
rs6794822	0.83[ASN][1000 genomes]
rs6796970	0.86[ASN][1000 genomes]
rs727905	0.86[ASN][1000 genomes]
rs7430798	0.85[ASN][1000 genomes]
rs7621259	0.91[ASN][1000 genomes]
rs7628626	0.91[ASN][1000 genomes]
rs7630587	0.86[ASN][1000 genomes]
rs7642502	0.91[ASN][1000 genomes]
rs9289129	0.85[ASN][1000 genomes]
rs9809155	0.86[ASN][1000 genomes]
rs9836627	0.91[ASN][1000 genomes]
rs9850447	0.98[ASN][1000 genomes]
rs9867768	0.98[ASN][1000 genomes]
rs9873196	0.91[ASN][1000 genomes]
rs9874480	0.86[ASN][1000 genomes]
rs9877854	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
3	chr3:119220800-119243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:119221000-119244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:119221200-119243600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:119221200-119244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:119221400-119245400	Strong transcription	Placenta	Placenta
8	chr3:119221600-119244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:119222000-119245400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:119224000-119245200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:119226000-119245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:119226000-119245200	Strong transcription	Liver	Liver
13	chr3:119226600-119245200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:119227400-119245400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:119228000-119243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:119229200-119244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:119230600-119245400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:119230800-119244400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr3:119231200-119244000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:119231600-119243400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:119231800-119243200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:119231800-119243400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr3:119231800-119244000	Strong transcription	Adipose Nuclei	Adipose
25	chr3:119231800-119244800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:119231800-119245400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:119231800-119257200	Strong transcription	GM12878-XiMat	blood
28	chr3:119232000-119243200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr3:119232000-119244200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:119232000-119244200	Strong transcription	Brain Substantia Nigra	brain
31	chr3:119232000-119245200	Strong transcription	A549	lung
32	chr3:119232200-119243200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:119233000-119245200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr3:119233200-119243600	Strong transcription	Brain Anterior Caudate	brain
35	chr3:119233200-119244600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr3:119234400-119244600	Strong transcription	Fetal Intestine Large	intestine
37	chr3:119234600-119244400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr3:119235800-119242600	Strong transcription	Fetal Kidney	kidney
39	chr3:119235800-119243600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:119237600-119245200	Strong transcription	Fetal Thymus	thymus
41	chr3:119237800-119243400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:119237800-119244800	Weak transcription	Hela-S3	cervix
43	chr3:119237800-119245000	Weak transcription	Colonic Mucosa	Colon
44	chr3:119237800-119245400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:119237800-119245800	Weak transcription	Small Intestine	intestine
46	chr3:119237800-119246000	Weak transcription	Right Ventricle	heart
47	chr3:119237800-119246400	Weak transcription	Pancreas	Pancrea
48	chr3:119237800-119246600	Weak transcription	Esophagus	oesophagus
49	chr3:119237800-119248000	Weak transcription	Aorta	Aorta
50	chr3:119237800-119251400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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