Variant report

Variant	rs28417898
Chromosome Location	chr16:74687602-74687603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74638965..74642242-chr16:74686896..74689511,3	MCF-7	breast:
2	chr16:74683456..74687841-chr16:74692338..74700960,8	MCF-7	breast:
3	chr16:74683261..74687740-chr16:74698913..74703582,5	MCF-7	breast:
4	chr16:74683458..74685370-chr16:74686196..74687770,2	K562	blood:

Variant related genes	Relation type
ENSG00000168411	Chromatin interaction
ENSG00000262904	Chromatin interaction
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11149758	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11640231	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12600208	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4334322	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4462622	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4887778	0.83[EUR][1000 genomes]
rs4887781	0.89[EUR][1000 genomes]
rs56283458	0.83[EUR][1000 genomes]
rs62051923	0.84[EUR][1000 genomes]
rs62051924	0.84[EUR][1000 genomes]
rs8047350	0.83[ASN][1000 genomes]
rs8061670	0.87[EUR][1000 genomes];0.81[ASN][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	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	esv275138	chr16:74647795-74722907	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv2760414	chr16:74647795-74741615	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
8	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
9	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv572975	chr16:74677312-74702254	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74642200-74688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:74647800-74691800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:74648800-74688400	Strong transcription	Dnd41	blood
4	chr16:74648800-74692200	Strong transcription	Fetal Thymus	thymus
5	chr16:74651000-74691200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:74652000-74692200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:74652200-74699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:74653000-74687800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:74653200-74687800	Strong transcription	Fetal Stomach	stomach
10	chr16:74653200-74690600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:74653200-74698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:74653400-74699000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:74654400-74689000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr16:74654600-74687800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:74655200-74688600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:74656800-74699400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:74657000-74699200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:74657200-74699400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr16:74657200-74699600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:74657400-74699200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:74657400-74699600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:74658200-74697200	Weak transcription	Fetal Brain Male	brain
23	chr16:74665800-74688200	Weak transcription	Stomach Mucosa	stomach
24	chr16:74666000-74692000	Weak transcription	Fetal Heart	heart
25	chr16:74667800-74688600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:74671600-74688400	Strong transcription	Hela-S3	cervix
27	chr16:74673600-74695400	Strong transcription	Fetal Muscle Leg	muscle
28	chr16:74676000-74688800	Strong transcription	GM12878-XiMat	blood
29	chr16:74676200-74692000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr16:74676400-74689200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr16:74676600-74691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:74677000-74691600	Strong transcription	HepG2	liver
33	chr16:74678400-74691800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:74678600-74692800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:74678600-74699800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr16:74679400-74687800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:74679400-74688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr16:74679400-74692800	Weak transcription	Brain Substantia Nigra	brain
39	chr16:74679600-74692000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:74680200-74688800	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:74680600-74692000	Weak transcription	Pancreas	Pancrea
42	chr16:74680800-74688400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:74681000-74689000	Strong transcription	Primary B cells from cord blood	blood
44	chr16:74682400-74690600	Weak transcription	Brain Angular Gyrus	brain
45	chr16:74682800-74688400	Weak transcription	Gastric	stomach
46	chr16:74682800-74691800	Weak transcription	Colonic Mucosa	Colon
47	chr16:74682800-74692000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:74682800-74692800	Weak transcription	Spleen	Spleen
49	chr16:74682800-74693400	Weak transcription	Right Ventricle	heart
50	chr16:74683000-74693000	Weak transcription	Esophagus	oesophagus

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