Variant report

Variant	rs2384859
Chromosome Location	chr8:126202126-126202127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126201987..126204200-chr8:126232600..126234162,2	K562	blood:
2	chr8:126199463..126202263-chr8:126440373..126443128,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094316	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112218	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986135	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2891630	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870935	0.92[ASN][1000 genomes]
rs5007394	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470338	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470339	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470342	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470343	0.86[AMR][1000 genomes]
rs6470344	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995096	0.92[ASN][1000 genomes]
rs7000553	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813225	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816430	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817794	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7836427	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
5	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:126187800-126202400	Weak transcription	HSMM	muscle
7	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
8	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:126194200-126226000	Weak transcription	Ovary	ovary
10	chr8:126194400-126204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:126197400-126203400	Weak transcription	Stomach Mucosa	stomach
12	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:126199000-126203400	Weak transcription	K562	blood
14	chr8:126199400-126203600	ZNF genes & repeats	GM12878-XiMat	blood
15	chr8:126199600-126203800	Weak transcription	Fetal Heart	heart
16	chr8:126200200-126202600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:126200200-126202800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:126200400-126202200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr8:126200400-126202200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr8:126200400-126202600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr8:126200400-126202800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:126200600-126202200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr8:126200800-126202400	ZNF genes & repeats	A549	lung
24	chr8:126200800-126203000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:126200800-126203600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:126201000-126202600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr8:126201000-126202600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr8:126201000-126202600	Strong transcription	Fetal Thymus	thymus
30	chr8:126201000-126217000	Weak transcription	Hela-S3	cervix
31	chr8:126201200-126203600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:126201200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:126201400-126202200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:126201600-126202200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:126201600-126202200	Strong transcription	Primary B cells from cord blood	blood
38	chr8:126201600-126202400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:126201600-126203000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:126201600-126203000	Strong transcription	Dnd41	blood
41	chr8:126201600-126203400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:126201600-126203600	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:126201600-126203600	Weak transcription	Fetal Intestine Large	intestine
44	chr8:126201600-126203600	Weak transcription	HepG2	liver
45	chr8:126201600-126203600	Weak transcription	HUVEC	blood vessel
46	chr8:126201600-126203800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:126201600-126204400	Strong transcription	Primary T cells from cord blood	blood
48	chr8:126201600-126204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:126201600-126213200	Weak transcription	Fetal Lung	lung
50	chr8:126201600-126216400	Weak transcription	Aorta	Aorta

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