Variant report

Variant	rs10238514
Chromosome Location	chr7:17919493-17919494
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	chr7:17919010..17920969-chr7:17924155..17925778,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10226396	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs10228026	1.00[AMR][1000 genomes]
rs10228344	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230274	0.91[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230644	1.00[AMR][1000 genomes]
rs10231226	1.00[AMR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10244018	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244826	0.83[AFR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10269984	0.87[AFR][1000 genomes]
rs10270181	1.00[AMR][1000 genomes]
rs10270757	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	1.00[AMR][1000 genomes]
rs10282571	1.00[AMR][1000 genomes]
rs11975603	1.00[AMR][1000 genomes]
rs11976744	1.00[YRI][hapmap]
rs11978117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138308	0.90[ASW][hapmap];0.91[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138418	0.88[MKK][hapmap]
rs17138437	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138450	1.00[AMR][1000 genomes]
rs28476778	1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28637602	0.86[AFR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AMR][1000 genomes]
rs59568611	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310107	1.00[AMR][1000 genomes]
rs73310108	0.84[AFR][1000 genomes]
rs73310176	1.00[AMR][1000 genomes]
rs73310185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][1000 genomes]
rs73312112	1.00[AMR][1000 genomes]
rs73312146	0.81[AFR][1000 genomes]
rs73680509	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10238514	DBN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
3	chr7:17885200-17933800	Weak transcription	HMEC	breast
4	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
5	chr7:17888600-17921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:17891800-17922400	Weak transcription	NH-A	brain
7	chr7:17895000-17933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:17900400-17956600	Weak transcription	A549	lung
9	chr7:17901400-17946200	Weak transcription	NHLF	lung
10	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
11	chr7:17903400-17925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:17903400-17930000	Weak transcription	Gastric	stomach
13	chr7:17903400-17942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:17903600-17925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:17903600-17945400	Weak transcription	Aorta	Aorta
16	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
17	chr7:17903800-17922400	Weak transcription	Fetal Heart	heart
18	chr7:17903800-17949000	Weak transcription	NHEK	skin
19	chr7:17904600-17920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:17905200-17928400	Weak transcription	NHDF-Ad	bronchial
21	chr7:17906400-17937800	Weak transcription	Brain Angular Gyrus	brain
22	chr7:17906400-17937800	Weak transcription	Brain Anterior Caudate	brain
23	chr7:17907200-17925000	Weak transcription	Fetal Intestine Small	intestine
24	chr7:17907200-17926400	Weak transcription	Fetal Brain Female	brain
25	chr7:17907200-17926800	Weak transcription	Esophagus	oesophagus
26	chr7:17907200-17927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:17907200-17931400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:17907200-17931600	Weak transcription	Fetal Brain Male	brain
29	chr7:17907200-17937800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:17907200-17939800	Weak transcription	Lung	lung
31	chr7:17907200-17941000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
33	chr7:17907400-17942400	Weak transcription	Small Intestine	intestine
34	chr7:17907600-17926800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:17908200-17927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:17911400-17925200	Weak transcription	Fetal Stomach	stomach
37	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:17911600-17942400	Weak transcription	HepG2	liver
39	chr7:17911800-17925200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:17911800-17926600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:17911800-17928800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:17911800-17933200	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:17911800-17939800	Weak transcription	Psoas Muscle	Psoas
44	chr7:17911800-17942400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:17912000-17926400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:17912000-17927400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:17912200-17920200	Weak transcription	Fetal Lung	lung
48	chr7:17912200-17921400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:17912200-17921600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:17912200-17925200	Weak transcription	Ovary	ovary

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