Variant report

Variant	rs4922017
Chromosome Location	chr8:19171807-19171808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19142668..19144947-chr8:19171540..19174164,2	MCF-7	breast:
2	chr8:19169455..19173162-chr8:19175391..19178341,5	MCF-7	breast:
3	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104611	Chromatin interaction
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1514692	0.83[ASN][1000 genomes]
rs2272000	0.89[ASN][1000 genomes]
rs4922016	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4922017	SH2D4A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19169800-19172000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:19170200-19172400	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:19170400-19172200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:19170400-19172400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:19170400-19172400	Enhancers	Fetal Brain Male	brain
6	chr8:19170600-19172200	Active TSS	Pancreas	Pancrea
7	chr8:19170600-19172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:19170600-19172400	Active TSS	Brain Hippocampus Middle	brain
9	chr8:19170600-19172400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:19170600-19172400	Active TSS	Right Atrium	heart
11	chr8:19170600-19172400	Active TSS	Right Ventricle	heart
12	chr8:19170600-19172600	Active TSS	A549	lung
13	chr8:19170800-19172000	Active TSS	Primary T cells from cord blood	blood
14	chr8:19170800-19172000	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:19170800-19172000	Weak transcription	Fetal Heart	heart
16	chr8:19170800-19172000	Active TSS	Left Ventricle	heart
17	chr8:19170800-19172200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:19170800-19172200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:19170800-19172200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:19170800-19172200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:19170800-19172200	Active TSS	Brain Anterior Caudate	brain
22	chr8:19170800-19172200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr8:19170800-19172200	Active TSS	Brain Substantia Nigra	brain
24	chr8:19170800-19172200	Active TSS	Colon Smooth Muscle	Colon
25	chr8:19170800-19172200	Active TSS	Fetal Kidney	kidney
26	chr8:19170800-19172200	Active TSS	Gastric	stomach
27	chr8:19170800-19172400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:19170800-19172400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:19170800-19172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr8:19170800-19172400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:19170800-19172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:19171000-19172000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr8:19171000-19172000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:19171000-19172000	Weak transcription	Fetal Lung	lung
35	chr8:19171000-19172000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:19171000-19172000	Active TSS	Small Intestine	intestine
37	chr8:19171000-19172000	Active TSS	HSMM	muscle
38	chr8:19171000-19172000	Active TSS	NHEK	skin
39	chr8:19171000-19172200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:19171000-19172200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:19171000-19172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:19171000-19172200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:19171000-19172200	Active TSS	Liver	Liver
44	chr8:19171000-19172200	Active TSS	Brain Angular Gyrus	brain
45	chr8:19171000-19172200	Active TSS	Esophagus	oesophagus
46	chr8:19171000-19172200	Active TSS	Fetal Intestine Large	intestine
47	chr8:19171000-19172200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr8:19171000-19172400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr8:19171000-19172400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:19171000-19172400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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