Variant report

Variant	rs34997385
Chromosome Location	chr5:16890857-16890858
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	chr5:16889896..16891500-chr5:16935094..16936823,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs166186	0.82[ASN][1000 genomes]
rs16869212	0.82[ASN][1000 genomes]
rs168812	0.88[ASN][1000 genomes]
rs253471	0.88[ASN][1000 genomes]
rs56388941	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv471739	chr5:16889000-16891718	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3437103	chr5:16889470-16891596	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3470356	chr5:16889510-16891561	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3470355	chr5:16889522-16891459	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3470357	chr5:16889522-16891459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv10206	chr5:16889714-16891025	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
2	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
7	chr5:16885200-16891000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:16885400-16894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:16886000-16892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:16886000-16893600	Weak transcription	Colonic Mucosa	Colon
11	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:16886400-16891400	Weak transcription	Aorta	Aorta
13	chr5:16887200-16894000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:16887400-16891200	Enhancers	NHDF-Ad	bronchial
15	chr5:16887400-16894200	Weak transcription	Placenta	Placenta
16	chr5:16887600-16894200	Weak transcription	Adipose Nuclei	Adipose
17	chr5:16888000-16891800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:16888600-16891400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:16888600-16891800	Enhancers	Fetal Intestine Large	intestine
20	chr5:16888600-16892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:16888600-16892400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:16888600-16893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:16888600-16893000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:16888600-16894200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:16888800-16892800	Enhancers	Pancreas	Pancrea
26	chr5:16889400-16891200	Enhancers	HMEC	breast
27	chr5:16889400-16892600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:16889600-16891200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:16889600-16891200	Weak transcription	Gastric	stomach
30	chr5:16889600-16891200	Weak transcription	Spleen	Spleen
31	chr5:16889600-16891400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:16889600-16891600	Enhancers	NHLF	lung
33	chr5:16889800-16894000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:16890000-16891000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:16890000-16891200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:16890000-16894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:16890200-16891000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:16890200-16891200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:16890200-16891400	Enhancers	NHEK	skin
40	chr5:16890200-16892200	Enhancers	Fetal Kidney	kidney
41	chr5:16890200-16892600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:16890200-16894200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:16890200-16894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:16890400-16891200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:16890400-16891600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:16890400-16892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:16890400-16892400	Enhancers	HUVEC	blood vessel
48	chr5:16890400-16894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:16890400-16894600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:16890400-16894800	Weak transcription	Fetal Stomach	stomach

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