Variant report

Variant	rs4699688
Chromosome Location	chr4:99800174-99800175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99798928..99802072-chr4:99848264..99852659,6	K562	blood:
2	chr4:99799191..99800792-chr4:99848264..99850994,3	K562	blood:
3	chr4:99778089..99779753-chr4:99799695..99801514,2	K562	blood:

Variant related genes	Relation type
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000238449	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10004975	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10023577	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10433890	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097640	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11725932	0.87[EUR][1000 genomes]
rs11729285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498533	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12644580	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17028293	0.84[EUR][1000 genomes]
rs2100426	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28494580	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28577966	0.86[EUR][1000 genomes]
rs28613604	0.81[EUR][1000 genomes]
rs2924581	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34830689	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35447189	0.83[EUR][1000 genomes]
rs4264834	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699693	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6810489	0.82[EUR][1000 genomes]
rs6811070	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6830125	0.87[EUR][1000 genomes]
rs6852715	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7660937	0.83[EUR][1000 genomes]
rs7661487	0.84[EUR][1000 genomes]
rs7664964	0.86[EUR][1000 genomes]
rs7665587	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7665590	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7674319	0.81[EUR][1000 genomes]
rs7696573	0.80[EUR][1000 genomes]
rs7696584	0.80[EUR][1000 genomes]
rs7697071	0.80[EUR][1000 genomes]
rs9332467	0.81[EUR][1000 genomes]
rs9996959	0.84[EUR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99790800-99805400	Weak transcription	Fetal Lung	lung
2	chr4:99792400-99825000	Weak transcription	Gastric	stomach
3	chr4:99792600-99804000	Weak transcription	HUVEC	blood vessel
4	chr4:99793000-99800800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:99793400-99803000	Weak transcription	Stomach Mucosa	stomach
6	chr4:99794400-99802600	Weak transcription	NHLF	lung
7	chr4:99794600-99800600	Weak transcription	HMEC	breast
8	chr4:99794600-99800600	Weak transcription	NHDF-Ad	bronchial
9	chr4:99794600-99802000	Weak transcription	Osteobl	bone
10	chr4:99794600-99802200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:99794600-99802800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:99794600-99802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:99794600-99804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:99794600-99805600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:99794600-99805600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:99794800-99800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:99794800-99802600	Weak transcription	NHEK	skin
18	chr4:99795000-99800600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:99795000-99807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:99795600-99804000	Weak transcription	Fetal Stomach	stomach
21	chr4:99795800-99804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:99795800-99804800	Weak transcription	Left Ventricle	heart
23	chr4:99795800-99805000	Weak transcription	GM12878-XiMat	blood
24	chr4:99795800-99806400	Weak transcription	Thymus	Thymus
25	chr4:99796000-99805400	Weak transcription	Fetal Brain Female	brain
26	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
27	chr4:99796200-99804200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:99796200-99804200	Weak transcription	Lung	lung
29	chr4:99796400-99800200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:99796400-99800400	Weak transcription	Adipose Nuclei	Adipose
31	chr4:99796400-99802800	Weak transcription	Fetal Intestine Large	intestine
32	chr4:99796400-99804200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:99796400-99804800	Weak transcription	Primary T cells from cord blood	blood
34	chr4:99796400-99804800	Weak transcription	Small Intestine	intestine
35	chr4:99796400-99805000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:99796600-99806800	Weak transcription	HSMMtube	muscle
37	chr4:99796600-99807600	Weak transcription	Brain Germinal Matrix	brain
38	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
39	chr4:99797000-99800600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:99797000-99800600	Weak transcription	Placenta	Placenta
41	chr4:99797000-99802600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:99797000-99807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:99797200-99800400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:99797200-99800400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:99797200-99802600	Weak transcription	Fetal Kidney	kidney
47	chr4:99797200-99803000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:99797200-99806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:99797400-99800400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:99797400-99801200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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