Variant report

Variant	rs4841319
Chromosome Location	chr8:10191620-10191621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10182025..10184201-chr8:10189131..10192259,3	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs55878365	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
2	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
3	chr8:10186800-10192200	Enhancers	Fetal Brain Male	brain
4	chr8:10189800-10192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10190000-10191800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:10190000-10191800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:10190000-10192800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:10190200-10191800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:10190200-10191800	Weak transcription	Colonic Mucosa	Colon
10	chr8:10190200-10191800	Enhancers	Thymus	Thymus
11	chr8:10190200-10191800	Flanking Active TSS	GM12878-XiMat	blood
12	chr8:10190200-10192000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:10190200-10192000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:10190400-10191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:10190400-10191800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:10190400-10191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:10190400-10191800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr8:10190400-10191800	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:10190400-10191800	Enhancers	Fetal Stomach	stomach
20	chr8:10190400-10191800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr8:10190400-10192000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:10190400-10193200	Enhancers	Fetal Heart	heart
23	chr8:10190400-10193400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:10190600-10191800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:10190600-10191800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:10190600-10191800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:10190600-10191800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:10190600-10191800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:10190600-10192200	Enhancers	Small Intestine	intestine
30	chr8:10190600-10192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr8:10190600-10193400	Enhancers	Spleen	Spleen
32	chr8:10190800-10191800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10190800-10191800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:10190800-10191800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:10190800-10191800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:10190800-10191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:10190800-10191800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:10190800-10191800	Weak transcription	NHDF-Ad	bronchial
39	chr8:10190800-10192000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:10190800-10192000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:10191000-10191800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:10191000-10192000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:10191000-10192000	Weak transcription	Left Ventricle	heart
44	chr8:10191000-10192200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:10191000-10193000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:10191200-10191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:10191200-10191800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:10191200-10191800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr8:10191200-10191800	Enhancers	Fetal Intestine Large	intestine
50	chr8:10191200-10191800	Enhancers	Fetal Intestine Small	intestine

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