Variant report

Variant	rs4948095
Chromosome Location	chr7:56026399-56026400
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	chr7:56024988..56027209-chr7:56029397..56032316,3	K562	blood:
2	chr7:56018536..56023436-chr7:56023593..56027250,7	K562	blood:

Variant related genes	Relation type
ENSG00000239789	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17172508	0.81[EUR][1000 genomes]
rs17664478	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4443615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4495378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948098	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4948103	0.80[EUR][1000 genomes]
rs4948107	0.82[EUR][1000 genomes]
rs4948108	0.82[EUR][1000 genomes]
rs58571234	0.83[EUR][1000 genomes]
rs59193297	0.83[EUR][1000 genomes]
rs59852874	0.81[EUR][1000 genomes]
rs6593298	0.82[EUR][1000 genomes]
rs66485869	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66741911	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67818657	0.81[EUR][1000 genomes]
rs6947109	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6954669	0.82[EUR][1000 genomes]
rs6964563	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73132850	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73132884	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73132888	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73134793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138732	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73138736	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73138750	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73140745	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73140778	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7779821	0.81[EUR][1000 genomes]
rs7784730	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7791221	0.84[EUR][1000 genomes]
rs7806994	0.83[EUR][1000 genomes]
rs7808487	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7810142	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs872294	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4948095	CHCHD2	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020200-56031200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:56020200-56031400	Weak transcription	Small Intestine	intestine
3	chr7:56020200-56031600	Weak transcription	Aorta	Aorta
4	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:56020400-56028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:56020400-56031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:56020400-56031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:56020400-56031200	Weak transcription	NHDF-Ad	bronchial
9	chr7:56020400-56031400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:56020400-56031400	Weak transcription	Colonic Mucosa	Colon
11	chr7:56020400-56031400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:56020400-56031400	Weak transcription	Esophagus	oesophagus
13	chr7:56020400-56031400	Weak transcription	Fetal Kidney	kidney
14	chr7:56020400-56031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:56020400-56031600	Weak transcription	Psoas Muscle	Psoas
16	chr7:56020400-56031600	Weak transcription	HUVEC	blood vessel
17	chr7:56020400-56031800	Weak transcription	HSMMtube	muscle
18	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
19	chr7:56020600-56027800	Weak transcription	Thymus	Thymus
20	chr7:56020600-56030200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:56020600-56031400	Weak transcription	Primary B cells from cord blood	blood
22	chr7:56020600-56031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:56020600-56031800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:56020800-56026600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:56020800-56031000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:56020800-56031000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:56021000-56031000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:56021000-56031000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:56021000-56031400	Weak transcription	Fetal Heart	heart
30	chr7:56021200-56031200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:56021200-56031400	Weak transcription	Fetal Brain Male	brain
32	chr7:56021800-56027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:56021800-56031400	Weak transcription	Pancreas	Pancrea
34	chr7:56021800-56031600	Weak transcription	NHLF	lung
35	chr7:56022000-56031400	Weak transcription	Placenta	Placenta
36	chr7:56022000-56031600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:56022000-56031600	Weak transcription	Fetal Thymus	thymus
38	chr7:56022000-56031600	Weak transcription	Osteobl	bone
39	chr7:56022200-56027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:56022200-56030800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:56022200-56031400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:56022200-56031600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:56022200-56031600	Weak transcription	Left Ventricle	heart
44	chr7:56022200-56031800	Weak transcription	Brain Germinal Matrix	brain
45	chr7:56022600-56031400	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:56022600-56031400	Weak transcription	GM12878-XiMat	blood
47	chr7:56022800-56029800	Weak transcription	NHEK	skin
48	chr7:56022800-56031200	Weak transcription	Spleen	Spleen
49	chr7:56022800-56031400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:56022800-56031400	Weak transcription	Brain Inferior Temporal Lobe	brain

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