Variant report

Variant	rs194135
Chromosome Location	chr5:16912136-16912137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16875713..16877407-chr5:16911491..16914086,2	MCF-7	breast:
2	chr5:16805947..16808433-chr5:16911651..16914280,2	MCF-7	breast:
3	chr5:16903174..16906084-chr5:16912041..16914007,3	MCF-7	breast:
4	chr5:16911519..16914596-chr5:16934738..16936991,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs29448	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29449	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs29450	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs29454	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs40983	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16896000-16912400	Weak transcription	Esophagus	oesophagus
2	chr5:16898200-16912600	Weak transcription	NH-A	brain
3	chr5:16902000-16912800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:16902200-16913800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:16902200-16919000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:16902200-16930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:16904400-16912400	Weak transcription	NHDF-Ad	bronchial
8	chr5:16904400-16912400	Weak transcription	NHLF	lung
9	chr5:16904400-16912400	Weak transcription	Osteobl	bone
10	chr5:16904400-16933200	Weak transcription	Fetal Stomach	stomach
11	chr5:16904600-16912400	Weak transcription	HSMM	muscle
12	chr5:16904800-16913600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:16906200-16912400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:16906400-16912400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:16906400-16912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:16906400-16912800	Weak transcription	Gastric	stomach
17	chr5:16906400-16913600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:16906800-16913600	Weak transcription	Psoas Muscle	Psoas
19	chr5:16907000-16912400	Weak transcription	Hela-S3	cervix
20	chr5:16907000-16913600	Weak transcription	Spleen	Spleen
21	chr5:16907600-16912400	Weak transcription	NHEK	skin
22	chr5:16907800-16912400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:16908000-16912200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:16908000-16912600	Weak transcription	HSMMtube	muscle
25	chr5:16908200-16913800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:16908800-16913600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:16909400-16912400	Weak transcription	Colonic Mucosa	Colon
28	chr5:16909400-16914600	Enhancers	Pancreas	Pancrea
29	chr5:16909400-16916400	Enhancers	Ovary	ovary
30	chr5:16909800-16915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:16910000-16913000	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:16910200-16912400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:16910600-16912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:16910600-16912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:16910600-16912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:16910600-16912600	Weak transcription	Stomach Mucosa	stomach
37	chr5:16910800-16912800	Enhancers	HMEC	breast
38	chr5:16910800-16924000	Weak transcription	Small Intestine	intestine
39	chr5:16911000-16912200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:16911000-16912400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:16911000-16912400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:16911000-16912400	Weak transcription	A549	lung
43	chr5:16911000-16912800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:16911000-16912800	Weak transcription	HUVEC	blood vessel
45	chr5:16911600-16912400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:16911600-16914600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:16911600-16916400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:16911800-16912200	Weak transcription	Fetal Lung	lung
49	chr5:16911800-16912400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:16911800-16912400	Weak transcription	Lung	lung

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