Variant report

Variant	rs2331918
Chromosome Location	chr14:69509315-69509316
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:
2	chr14:69443082..69446531-chr14:69508749..69512052,3	MCF-7	breast:
3	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10083451	0.96[CEU][hapmap]
rs10130013	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs10132533	0.84[CEU][hapmap]
rs10134578	0.93[EUR][1000 genomes]
rs10135127	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10135643	0.84[EUR][1000 genomes]
rs10135971	0.95[EUR][1000 genomes]
rs1013762	1.00[JPT][hapmap]
rs10139873	0.96[CEU][hapmap]
rs10143302	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10145565	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10146339	0.96[CEU][hapmap]
rs10146649	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147369	0.96[CEU][hapmap]
rs10148614	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs10149232	0.96[CEU][hapmap]
rs10151376	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10498527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs1105625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs11158780	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158782	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs11158784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11158785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11158786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11158787	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs11158789	0.80[ASN][1000 genomes]
rs11158790	0.96[CEU][hapmap]
rs11158795	0.88[CEU][hapmap]
rs11158798	0.84[CEU][hapmap]
rs11622889	0.96[CEU][hapmap]
rs11626985	1.00[JPT][hapmap]
rs11627004	1.00[JPT][hapmap]
rs11627476	1.00[JPT][hapmap]
rs12323738	0.99[EUR][1000 genomes]
rs12431846	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs12434775	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs12435594	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12589028	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs1275414	0.87[ASN][1000 genomes]
rs1275417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12879406	0.96[CEU][hapmap]
rs12881049	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12885977	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12886715	0.83[CEU][hapmap]
rs12889849	0.84[CEU][hapmap]
rs12891103	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1626122	0.80[ASN][1000 genomes]
rs1629783	1.00[CHB][hapmap]
rs1710989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1710990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1710993	1.00[CHB][hapmap]
rs1892296	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1914004	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1950712	1.00[JPT][hapmap]
rs1973677	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2001998	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2056153	0.96[CEU][hapmap]
rs2176255	1.00[JPT][hapmap]
rs28613298	0.96[CEU][hapmap]
rs3211166	0.83[CEU][hapmap]
rs35538328	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3742905	1.00[JPT][hapmap]
rs4338726	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899280	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902695	1.00[JPT][hapmap]
rs61981619	0.81[AMR][1000 genomes]
rs6573869	0.96[CEU][hapmap]
rs7141235	1.00[CHB][hapmap]
rs7144307	0.84[CEU][hapmap]
rs7144704	1.00[JPT][hapmap]
rs7148045	0.84[CEU][hapmap]
rs7151797	0.87[AMR][1000 genomes]
rs7160629	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs761899	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8008141	1.00[JPT][hapmap]
rs8008184	0.96[CEU][hapmap]
rs8017103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9323524	0.96[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2331918	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69504800-69509600	Weak transcription	Pancreas	Pancrea
2	chr14:69505200-69509600	Weak transcription	Spleen	Spleen
3	chr14:69505400-69510000	Weak transcription	Fetal Heart	heart
4	chr14:69505400-69510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69505800-69509600	Weak transcription	Esophagus	oesophagus
6	chr14:69505800-69509600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:69505800-69509800	Weak transcription	Placenta	Placenta
8	chr14:69505800-69509800	Weak transcription	Left Ventricle	heart
9	chr14:69505800-69509800	Weak transcription	Right Atrium	heart
10	chr14:69505800-69510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:69505800-69510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:69506000-69509400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:69506000-69509400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:69506000-69511200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:69506200-69509600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:69506200-69510000	Weak transcription	Right Ventricle	heart
17	chr14:69506400-69509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:69506400-69509600	Weak transcription	Psoas Muscle	Psoas
19	chr14:69506400-69509800	Weak transcription	NHLF	lung
20	chr14:69506400-69510200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:69506400-69510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:69506600-69509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:69506600-69509400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:69506600-69509400	Weak transcription	Osteobl	bone
25	chr14:69506600-69509600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:69506600-69509600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:69506600-69509600	Weak transcription	HSMM	muscle
28	chr14:69506600-69511000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:69506800-69509800	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:69506800-69510200	Weak transcription	HMEC	breast
31	chr14:69507200-69509600	Weak transcription	HUVEC	blood vessel
32	chr14:69507200-69509800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:69507200-69510000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:69507200-69510800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:69508000-69510000	Enhancers	Fetal Kidney	kidney
36	chr14:69508400-69509400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:69508400-69509600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:69508400-69509600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:69508400-69511200	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:69508600-69509600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr14:69508600-69510000	Enhancers	Adipose Nuclei	Adipose
42	chr14:69508600-69510000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr14:69508600-69510800	Enhancers	Brain Angular Gyrus	brain
44	chr14:69508600-69511600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr14:69508600-69512200	Enhancers	HSMMtube	muscle
46	chr14:69508600-69513200	Enhancers	Fetal Intestine Small	intestine
47	chr14:69508600-69513400	Enhancers	Fetal Intestine Large	intestine
48	chr14:69508800-69509600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:69508800-69509600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:69508800-69509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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