Variant report

Variant	rs6924982
Chromosome Location	chr6:34269856-34269857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34204531..34206261-chr6:34268326..34273116,4	K562	blood:
2	chr6:34261986..34267851-chr6:34269330..34272911,9	K562	blood:
3	chr6:34263488..34269053-chr6:34269608..34275567,7	K562	blood:
4	chr6:34269756..34272267-chr6:34359227..34360907,2	MCF-7	breast:
5	chr4:144552998..144554498-chr6:34268238..34270073,2	K562	blood:

Variant related genes	Relation type
ENSG00000272325	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs16885998	0.80[ASN][1000 genomes]
rs169584	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1811968	0.84[EUR][1000 genomes]
rs2006833	0.86[EUR][1000 genomes]
rs206919	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs206920	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs206921	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs206924	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs206925	0.80[EUR][1000 genomes]
rs206936	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs206941	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs206942	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237098	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798556	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798560	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3913009	0.85[EUR][1000 genomes]
rs3913010	0.85[EUR][1000 genomes]
rs410340	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414739	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs458576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4587164	0.82[EUR][1000 genomes]
rs464553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713770	0.80[ASN][1000 genomes]
rs568502	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57622072	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457773	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6907486	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6912971	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6924482	0.84[EUR][1000 genomes]
rs6930978	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757586	0.84[EUR][1000 genomes]
rs7757900	0.85[EUR][1000 genomes]
rs7765498	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9366856	0.80[EUR][1000 genomes]
rs9368810	0.81[AMR][1000 genomes]
rs9368813	0.85[EUR][1000 genomes]
rs9380433	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9380435	0.80[EUR][1000 genomes]
rs9394214	0.86[EUR][1000 genomes]
rs9394215	0.84[EUR][1000 genomes]
rs9394218	0.80[EUR][1000 genomes]
rs9461981	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9469775	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9469779	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv1794528	chr6:34267024-34308816	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6924982	NUDT3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34244400-34273400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:34251000-34283200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34253600-34271200	Weak transcription	Stomach Mucosa	stomach
4	chr6:34260200-34272800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:34261400-34273400	Weak transcription	Fetal Kidney	kidney
6	chr6:34261400-34276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:34261600-34273400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:34261600-34276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:34261800-34271200	Weak transcription	HUVEC	blood vessel
10	chr6:34261800-34273600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:34261800-34275200	Weak transcription	Aorta	Aorta
12	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:34262000-34274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:34262000-34276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34262000-34282600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:34262000-34282800	Weak transcription	Primary T cells from cord blood	blood
17	chr6:34262000-34283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:34262000-34284600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:34262000-34286600	Weak transcription	Gastric	stomach
20	chr6:34262000-34289000	Weak transcription	Hela-S3	cervix
21	chr6:34262000-34292800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:34262200-34273400	Weak transcription	Fetal Brain Female	brain
23	chr6:34262200-34276000	Weak transcription	Pancreas	Pancrea
24	chr6:34262200-34295400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:34262200-34301200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:34262800-34272000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:34262800-34290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:34263000-34270600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:34263000-34273600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:34263200-34273800	Weak transcription	Fetal Intestine Small	intestine
31	chr6:34263600-34270600	Enhancers	Left Ventricle	heart
32	chr6:34263800-34273400	Weak transcription	Fetal Stomach	stomach
33	chr6:34263800-34274000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:34263800-34282800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:34263800-34288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:34264000-34282400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:34264000-34299000	Weak transcription	Dnd41	blood
38	chr6:34264600-34282400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:34264600-34284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:34265200-34273400	Weak transcription	HSMMtube	muscle
41	chr6:34265400-34271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:34265400-34273600	Weak transcription	Fetal Brain Male	brain
43	chr6:34266800-34270400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:34267400-34283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:34267800-34270000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:34267800-34270000	Enhancers	Right Atrium	heart
47	chr6:34268000-34270400	Enhancers	Psoas Muscle	Psoas
48	chr6:34268200-34270000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:34268200-34270400	Enhancers	Fetal Muscle Leg	muscle
50	chr6:34268200-34274200	Weak transcription	Esophagus	oesophagus

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