Variant report

Variant	rs17138375
Chromosome Location	chr7:17931568-17931569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17930978..17932798-chr7:17979382..17982300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10228026	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10229298	0.91[YRI][hapmap]
rs10230644	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10231119	0.85[AFR][1000 genomes]
rs10231226	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10231837	0.92[YRI][hapmap]
rs10234457	0.91[YRI][hapmap];0.94[AFR][1000 genomes]
rs10237285	0.91[YRI][hapmap]
rs10252726	0.82[AFR][1000 genomes]
rs10258047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269984	1.00[AMR][1000 genomes]
rs10270181	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs10274155	1.00[YRI][hapmap]
rs10278523	0.91[YRI][hapmap]
rs10280913	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs10282332	0.82[AFR][1000 genomes]
rs10282571	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11975603	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17138311	0.91[YRI][hapmap]
rs17138395	0.91[YRI][hapmap];0.91[AFR][1000 genomes]
rs17138405	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138418	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs17138450	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs1880456	0.84[YRI][hapmap]
rs28476778	0.88[AFR][1000 genomes]
rs28637602	1.00[AMR][1000 genomes]
rs28862893	1.00[AFR][1000 genomes]
rs73310107	0.97[AFR][1000 genomes]
rs73310176	1.00[AFR][1000 genomes]
rs73312112	1.00[AFR][1000 genomes]
rs73680509	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 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	chr7:17885200-17933800	Weak transcription	HMEC	breast
3	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
4	chr7:17895000-17933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:17900400-17956600	Weak transcription	A549	lung
6	chr7:17901400-17946200	Weak transcription	NHLF	lung
7	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
8	chr7:17903400-17942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:17903600-17945400	Weak transcription	Aorta	Aorta
10	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
11	chr7:17903800-17949000	Weak transcription	NHEK	skin
12	chr7:17906400-17937800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:17906400-17937800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:17907200-17931600	Weak transcription	Fetal Brain Male	brain
15	chr7:17907200-17937800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:17907200-17939800	Weak transcription	Lung	lung
17	chr7:17907200-17941000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
19	chr7:17907400-17942400	Weak transcription	Small Intestine	intestine
20	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:17911600-17942400	Weak transcription	HepG2	liver
22	chr7:17911800-17933200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:17911800-17939800	Weak transcription	Psoas Muscle	Psoas
24	chr7:17911800-17942400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:17912400-17932200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:17912400-17939800	Weak transcription	Right Ventricle	heart
27	chr7:17913000-17937800	Weak transcription	Brain Substantia Nigra	brain
28	chr7:17913000-17955800	Weak transcription	K562	blood
29	chr7:17916200-17942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:17918200-17948000	Weak transcription	GM12878-XiMat	blood
31	chr7:17918600-17932200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:17918600-17936600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:17918600-17938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:17918800-17942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:17919000-17931600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:17919200-17934400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:17921600-17934600	Weak transcription	Osteobl	bone
38	chr7:17922800-17937800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:17923000-17940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:17923000-17942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:17925400-17939800	Weak transcription	Fetal Stomach	stomach
42	chr7:17926200-17939800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:17926200-17942400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:17926800-17941000	Weak transcription	Fetal Brain Female	brain
45	chr7:17927200-17939800	Weak transcription	Ovary	ovary
46	chr7:17927200-17944600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:17927200-17955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:17928200-17946800	Weak transcription	Hela-S3	cervix
49	chr7:17928400-17936800	Weak transcription	NH-A	brain
50	chr7:17929000-17937800	Weak transcription	Brain Hippocampus Middle	brain

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