Variant report

Variant	rs2384882
Chromosome Location	chr8:126190444-126190445
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126184530..126188708-chr8:126189850..126192758,4	MCF-7	breast:
2	chr8:126188966..126191727-chr8:126193252..126196746,4	MCF-7	breast:
3	chr8:126176328..126178254-chr8:126189530..126191092,2	MCF-7	breast:
4	chr8:126187565..126190942-chr8:126191292..126194189,3	K562	blood:
5	chr8:126183828..126186606-chr8:126190098..126191640,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs12681602	0.80[CEU][hapmap]
rs13249982	0.80[CEU][hapmap]
rs13253942	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264500	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13267325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]
rs7461756	0.89[CEU][hapmap]
rs7830564	1.00[YRI][hapmap]
rs868227	0.89[CEU][hapmap]

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	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:126163200-126193200	Weak transcription	Ovary	ovary
11	chr8:126166000-126200200	Weak transcription	Dnd41	blood
12	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
16	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:126179200-126194400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:126179200-126195800	Weak transcription	Esophagus	oesophagus
19	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:126179800-126193800	Weak transcription	Pancreas	Pancrea
21	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
23	chr8:126182400-126201000	Weak transcription	HepG2	liver
24	chr8:126184000-126200400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:126186800-126190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:126187000-126190800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:126187000-126193200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:126187400-126190600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:126187600-126190600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:126187600-126193200	Weak transcription	Aorta	Aorta
32	chr8:126187600-126193200	Weak transcription	Right Atrium	heart
33	chr8:126187600-126198800	Weak transcription	Gastric	stomach
34	chr8:126187600-126200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:126187600-126200400	Weak transcription	Psoas Muscle	Psoas
36	chr8:126187600-126201000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:126187800-126192800	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126187800-126193200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:126187800-126194000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:126187800-126195200	Weak transcription	NHLF	lung
41	chr8:126187800-126195400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:126187800-126202400	Weak transcription	HSMM	muscle
43	chr8:126188000-126200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:126188000-126200600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:126188000-126200800	Weak transcription	A549	lung
46	chr8:126188000-126201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:126188200-126200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:126188400-126190600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:126188400-126191800	Weak transcription	K562	blood
50	chr8:126188400-126193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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