Variant report

Variant	rs7591959
Chromosome Location	chr2:39059795-39059796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39053503..39057037-chr2:39058758..39062643,3	K562	blood:
2	chr2:38973416..38975582-chr2:39059535..39061861,2	MCF-7	breast:
3	chr2:38976872..38979840-chr2:39056753..39060826,5	K562	blood:
4	chr2:38976968..38979836-chr2:39057307..39060764,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10168789	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10173240	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10865144	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12712621	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12712622	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12712624	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029406	0.86[AFR][1000 genomes]
rs13383541	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1979142	0.85[AFR][1000 genomes]
rs3099984	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3099985	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3099987	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3099988	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099989	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099991	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3112140	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112149	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770681	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4670897	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60012208	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6723868	0.85[ASN][1000 genomes]
rs7588621	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589162	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7602287	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7591959	DHX57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:39022000-39066800	Weak transcription	Stomach Mucosa	stomach
3	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
5	chr2:39032800-39072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:39038800-39102200	Weak transcription	Gastric	stomach
8	chr2:39039000-39085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:39039000-39090000	Weak transcription	Esophagus	oesophagus
10	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
12	chr2:39040000-39069000	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:39042800-39063000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:39042800-39080600	Weak transcription	Small Intestine	intestine
15	chr2:39043600-39079800	Weak transcription	Right Ventricle	heart
16	chr2:39046000-39073200	Weak transcription	Pancreas	Pancrea
17	chr2:39046200-39070200	Weak transcription	NHLF	lung
18	chr2:39048400-39060800	Strong transcription	Fetal Stomach	stomach
19	chr2:39050400-39062800	Weak transcription	Thymus	Thymus
20	chr2:39050400-39063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:39050400-39072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:39050400-39079800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:39050400-39079800	Weak transcription	Spleen	Spleen
24	chr2:39050400-39088000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:39051000-39068600	Weak transcription	HMEC	breast
26	chr2:39052000-39061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:39052200-39068600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:39053200-39068600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:39053200-39069600	Weak transcription	HUVEC	blood vessel
30	chr2:39053600-39060000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:39053600-39062400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:39053800-39060600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:39053800-39060600	Weak transcription	Fetal Kidney	kidney
34	chr2:39053800-39061800	Weak transcription	Fetal Lung	lung
35	chr2:39053800-39062400	Weak transcription	Left Ventricle	heart
36	chr2:39053800-39062800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:39053800-39063000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:39053800-39063800	Weak transcription	Liver	Liver
39	chr2:39053800-39064600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:39053800-39068200	Weak transcription	HSMM	muscle
41	chr2:39053800-39068400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:39053800-39068600	Weak transcription	Aorta	Aorta
43	chr2:39053800-39068800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:39053800-39080200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:39053800-39080600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:39054000-39060200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:39054000-39060600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:39054000-39061400	Weak transcription	Fetal Thymus	thymus
49	chr2:39054000-39061800	Weak transcription	NHEK	skin
50	chr2:39054000-39062000	Weak transcription	Primary B cells from cord blood	blood

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