Variant report

Variant	rs7235871
Chromosome Location	chr18:29417375-29417376
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	chr18:29415005..29417838-chr18:29671668..29674584,2	K562	blood:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000238982	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28420519	1.00[EUR][1000 genomes]
rs28473031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28760310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908498	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7244322	0.91[EUR][1000 genomes]
rs73411516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084534	0.81[EUR][1000 genomes]
rs8084615	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8086361	0.91[EUR][1000 genomes]
rs8098568	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304106	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9948663	1.00[EUR][1000 genomes]
rs9949329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952486	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9954954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9956632	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9963080	1.00[EUR][1000 genomes]
rs9965666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:29406000-29417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
5	chr18:29406800-29431600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:29407400-29427400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:29407400-29429800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr18:29407400-29432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:29407800-29431200	Weak transcription	Psoas Muscle	Psoas
10	chr18:29408000-29418200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:29408400-29417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:29408400-29420800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:29408600-29420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:29408800-29419400	Strong transcription	Adipose Nuclei	Adipose
17	chr18:29408800-29419400	Strong transcription	Fetal Intestine Large	intestine
18	chr18:29409000-29418000	Weak transcription	Brain Germinal Matrix	brain
19	chr18:29409000-29420000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr18:29409000-29420000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:29409200-29419400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr18:29409200-29419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:29409600-29430000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr18:29409600-29430600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr18:29409800-29417400	Weak transcription	HUVEC	blood vessel
28	chr18:29409800-29417800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:29409800-29432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:29409800-29466600	Weak transcription	Gastric	stomach
31	chr18:29410400-29431400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:29410800-29418200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:29411000-29426200	Weak transcription	Esophagus	oesophagus
34	chr18:29412600-29420800	Strong transcription	Primary B cells from cord blood	blood
35	chr18:29412800-29418200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:29412800-29420200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr18:29412800-29420200	Strong transcription	Liver	Liver
38	chr18:29412800-29420200	Strong transcription	Dnd41	blood
39	chr18:29412800-29420400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr18:29413000-29419000	Strong transcription	Primary T cells from cord blood	blood
41	chr18:29413000-29419000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr18:29413000-29419000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr18:29413000-29419400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:29413000-29419400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:29413000-29419400	Strong transcription	Left Ventricle	heart
46	chr18:29413000-29420800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:29413000-29421000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr18:29413200-29419000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr18:29413200-29419000	Strong transcription	Fetal Muscle Leg	muscle
50	chr18:29413200-29419000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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