Variant report

Variant	rs7405677
Chromosome Location	chr17:18131236-18131237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
3	chr17:18130971..18132517-chr17:18148096..18150971,2	MCF-7	breast:
4	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
5	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
6	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
7	chr17:18130743..18132299-chr17:18139265..18141956,2	K562	blood:
8	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11867895	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11868708	0.82[EUR][1000 genomes]
rs11869582	0.88[EUR][1000 genomes]
rs11869952	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11872031	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12449313	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12451555	0.84[EUR][1000 genomes]
rs12451698	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12939851	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961114	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16961133	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16961153	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1925	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1962949	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1962950	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2071242	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2290502	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290503	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290504	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290505	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294913	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28364628	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35738574	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3817992	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3829956	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3862147	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889544	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4450455	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4556848	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925151	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57490980	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57697650	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59366579	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62072507	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62072509	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072511	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62072515	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072537	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072540	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62072541	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6502641	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7211573	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7215678	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7498	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081042	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8081155	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8081343	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9913139	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9913266	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18129800-18137000	Weak transcription	Aorta	Aorta
3	chr17:18130000-18131400	Enhancers	Gastric	stomach
4	chr17:18130000-18131800	Weak transcription	Right Ventricle	heart
5	chr17:18130000-18133600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:18130000-18134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:18130000-18136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:18130000-18137000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:18130000-18137000	Weak transcription	Left Ventricle	heart
10	chr17:18130000-18137200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
13	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
15	chr17:18130200-18131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:18130200-18131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:18130200-18131600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:18130200-18131800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:18130200-18132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:18130200-18132200	Weak transcription	Ovary	ovary
21	chr17:18130200-18132800	Enhancers	Fetal Muscle Trunk	muscle
22	chr17:18130200-18134600	Genic enhancers	Fetal Stomach	stomach
23	chr17:18130200-18135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:18130200-18135200	Weak transcription	Fetal Intestine Large	intestine
25	chr17:18130200-18135400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:18130200-18135400	Weak transcription	Thymus	Thymus
27	chr17:18130200-18135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:18130200-18135800	Weak transcription	Pancreas	Pancrea
29	chr17:18130200-18136000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:18130200-18136000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:18130200-18136000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr17:18130200-18136800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:18130200-18137000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr17:18130200-18137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:18130200-18137400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr17:18130200-18137400	Weak transcription	Colonic Mucosa	Colon
37	chr17:18130200-18138000	Weak transcription	HUVEC	blood vessel
38	chr17:18130200-18139600	Weak transcription	Primary B cells from cord blood	blood
39	chr17:18130200-18145600	Weak transcription	A549	lung
40	chr17:18130200-18147000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr17:18130200-18147000	Weak transcription	Liver	Liver
42	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
43	chr17:18130400-18131400	Weak transcription	Adipose Nuclei	Adipose
44	chr17:18130400-18131600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:18130400-18132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:18130400-18133000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:18130400-18133600	Enhancers	Brain Angular Gyrus	brain
48	chr17:18130400-18133800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:18130400-18135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:18130400-18135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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