Variant report

Variant	rs41310363
Chromosome Location	chr1:10239647-10239648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1046277	0.94[ASN][1000 genomes]
rs17034569	0.90[EUR][1000 genomes]
rs4846195	0.97[ASN][1000 genomes]
rs61760196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72861457	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72861493	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72864116	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72864129	0.90[EUR][1000 genomes]
rs72864132	0.90[EUR][1000 genomes]
rs72864158	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 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	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
3	chr1:10230800-10241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
5	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
6	chr1:10231800-10239800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
8	chr1:10233200-10240200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:10233200-10240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:10233200-10241800	Weak transcription	A549	lung
11	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
12	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
13	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:10235200-10239800	Weak transcription	NH-A	brain
15	chr1:10235600-10240000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:10235800-10241800	Strong transcription	Liver	Liver
17	chr1:10236400-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:10236400-10258200	Weak transcription	HSMM	muscle
19	chr1:10237000-10241400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:10237000-10242200	Strong transcription	Fetal Stomach	stomach
21	chr1:10237200-10241800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:10237800-10240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:10237800-10241000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:10237800-10241200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:10237800-10241200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:10237800-10241200	Strong transcription	Fetal Thymus	thymus
27	chr1:10237800-10241600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:10237800-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:10238000-10239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:10238000-10240000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:10238000-10240400	Enhancers	Fetal Brain Male	brain
32	chr1:10238000-10241000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:10238000-10241000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:10238000-10241200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:10238000-10241600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:10238000-10241600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:10238000-10241600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:10238000-10241600	Strong transcription	Fetal Intestine Large	intestine
39	chr1:10238000-10241800	Strong transcription	Lung	lung
40	chr1:10238200-10241000	Strong transcription	HepG2	liver
41	chr1:10238200-10241200	Strong transcription	Primary T cells from cord blood	blood
42	chr1:10238200-10241600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:10238200-10241600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:10238200-10241800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:10238400-10240200	Enhancers	Brain Substantia Nigra	brain
46	chr1:10238600-10239800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:10238600-10240000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:10238600-10240400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:10238600-10241000	Strong transcription	Spleen	Spleen
50	chr1:10238600-10241000	Strong transcription	Dnd41	blood

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