Variant report

Variant	rs2596993
Chromosome Location	chr10:46262367-46262368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59591871	0.87[AMR][1000 genomes]
rs59931169	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045014	chr10:46148750-46814526	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2754498	chr10:46148750-47136996	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv540591	chr10:46153700-47140487	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1044906	chr10:46153700-47148281	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv540592	chr10:46153700-47148281	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv870020	chr10:46158215-47148490	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1040524	chr10:46160537-47122043	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1038499	chr10:46160537-47140487	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv540593	chr10:46160537-47140487	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1055132	chr10:46160537-47148281	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv540594	chr10:46160537-47148281	Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv870127	chr10:46169876-47148490	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv1048999	chr10:46177081-47047587	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv2753802	chr10:46207801-47136996	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	esv2750899	chr10:46210751-47136996	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
16	esv2755131	chr10:46210751-47136996	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
17	esv2755918	chr10:46210751-47136996	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
18	nsv1045120	chr10:46215431-46814526	Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1044378	chr10:46215431-47069678	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	esv2756003	chr10:46216415-47136996	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv1036909	chr10:46247355-46996235	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2596993	ZFAND4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46223000-46284200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:46223400-46266400	Weak transcription	Lung	lung
3	chr10:46223400-46274600	Weak transcription	Primary T cells from cord blood	blood
4	chr10:46223400-46274800	Weak transcription	Ovary	ovary
5	chr10:46223400-46280400	Weak transcription	Brain Substantia Nigra	brain
6	chr10:46223400-46280400	Weak transcription	Placenta	Placenta
7	chr10:46223400-46284000	Weak transcription	Brain Anterior Caudate	brain
8	chr10:46223400-46284800	Weak transcription	Pancreas	Pancrea
9	chr10:46223400-46285000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:46223600-46266400	Weak transcription	Thymus	Thymus
11	chr10:46223600-46266600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:46223600-46274400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:46223600-46274800	Weak transcription	Brain Angular Gyrus	brain
14	chr10:46223600-46274800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:46223600-46280000	Weak transcription	Fetal Intestine Large	intestine
16	chr10:46223600-46280200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:46223600-46280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:46223600-46280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:46223600-46280400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:46223600-46280400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:46223600-46280400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:46223600-46280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:46223600-46282600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:46223600-46284800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:46223600-46284800	Weak transcription	Fetal Brain Female	brain
26	chr10:46223600-46284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:46223600-46285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:46223600-46285200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:46223600-46285200	Weak transcription	Fetal Lung	lung
30	chr10:46223800-46274800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:46223800-46285200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:46223800-46285200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:46223800-46285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:46223800-46285200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:46225000-46274800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr10:46225000-46274800	Weak transcription	Dnd41	blood
37	chr10:46225000-46280400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:46225000-46284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:46228800-46274800	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:46229600-46274800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:46232400-46285200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:46232800-46281400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:46238800-46275000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:46242600-46280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:46243000-46274800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:46245200-46281000	Weak transcription	Esophagus	oesophagus
47	chr10:46246000-46284800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:46247000-46274800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:46247000-46285000	Weak transcription	Aorta	Aorta
50	chr10:46247800-46282200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links