Variant report

Variant	rs72672698
Chromosome Location	chr4:110470492-110470493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110354210..110355999-chr4:110468892..110470788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138802	Chromatin interaction
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10016533	0.81[EUR][1000 genomes]
rs10025781	0.80[EUR][1000 genomes]
rs10452150	0.84[EUR][1000 genomes]
rs13110999	0.84[EUR][1000 genomes]
rs13122093	0.84[EUR][1000 genomes]
rs13132816	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13133491	0.87[EUR][1000 genomes]
rs13140373	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13147210	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13147439	0.80[EUR][1000 genomes]
rs13151464	0.84[EUR][1000 genomes]
rs13151516	0.87[EUR][1000 genomes]
rs15821	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs33911248	0.84[EUR][1000 genomes]
rs34132975	0.84[EUR][1000 genomes]
rs34133579	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34368920	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34398932	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34473874	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34502105	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34660885	0.84[EUR][1000 genomes]
rs34710885	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34727629	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34813537	0.84[EUR][1000 genomes]
rs34851707	0.87[EUR][1000 genomes]
rs34861128	0.83[EUR][1000 genomes]
rs34953524	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35199349	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35313553	0.84[EUR][1000 genomes]
rs35329136	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35450490	0.84[EUR][1000 genomes]
rs35598950	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35699695	0.84[EUR][1000 genomes]
rs35865655	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866656	0.84[EUR][1000 genomes]
rs35950484	0.84[EUR][1000 genomes]
rs36102563	0.84[EUR][1000 genomes]
rs41277037	0.87[EUR][1000 genomes]
rs6533434	0.98[EUR][1000 genomes]
rs66493839	0.87[EUR][1000 genomes]
rs67066117	0.81[AFR][1000 genomes]
rs67727505	0.82[EUR][1000 genomes]
rs67923759	0.84[EUR][1000 genomes]
rs6828719	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834685	0.98[EUR][1000 genomes]
rs71603034	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71603035	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv980240	chr4:110467259-110476042	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
2	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:110448800-110479600	Weak transcription	Small Intestine	intestine
4	chr4:110448800-110480000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:110452400-110480800	Weak transcription	Right Ventricle	heart
6	chr4:110454000-110480600	Weak transcription	NHLF	lung
7	chr4:110454600-110480200	Weak transcription	A549	lung
8	chr4:110455000-110470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:110455600-110480600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:110456200-110470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:110456400-110472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:110456400-110480600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:110456400-110481600	Weak transcription	Fetal Heart	heart
14	chr4:110457400-110480600	Weak transcription	Right Atrium	heart
15	chr4:110460200-110480800	Weak transcription	Brain Anterior Caudate	brain
16	chr4:110461000-110480600	Weak transcription	HSMMtube	muscle
17	chr4:110461200-110471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:110461200-110479600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:110462000-110478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:110462400-110474400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:110462600-110479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:110462800-110480800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:110463200-110480800	Weak transcription	Colonic Mucosa	Colon
24	chr4:110464000-110476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:110464400-110478800	Weak transcription	Dnd41	blood
26	chr4:110464600-110471800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:110464600-110473800	Weak transcription	Fetal Kidney	kidney
28	chr4:110464600-110476000	Weak transcription	Thymus	Thymus
29	chr4:110464600-110480600	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:110464600-110480600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:110464800-110473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:110464800-110480200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:110464800-110480800	Weak transcription	Gastric	stomach
34	chr4:110465400-110475600	Weak transcription	Fetal Intestine Large	intestine
35	chr4:110465400-110480600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:110465400-110480600	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:110465600-110480600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:110465800-110480200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:110466200-110471600	Weak transcription	Fetal Lung	lung
40	chr4:110466200-110472000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:110467400-110470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:110467800-110473400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:110467800-110478800	Weak transcription	Fetal Stomach	stomach
44	chr4:110467800-110480400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:110467800-110480800	Weak transcription	Left Ventricle	heart
46	chr4:110468000-110470600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:110468200-110480200	Weak transcription	GM12878-XiMat	blood
48	chr4:110468400-110480800	Weak transcription	Liver	Liver
49	chr4:110468600-110471200	Enhancers	HUVEC	blood vessel
50	chr4:110469000-110470800	Enhancers	Primary monocytes fromperipheralblood	blood

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