Variant report

Variant	rs16841523
Chromosome Location	chr4:7985977-7985978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7982215..7985170-chr4:7985495..7987162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28712356	0.93[ASN][1000 genomes]
rs4696662	0.92[ASN][1000 genomes]
rs4696663	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4696724	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4696725	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4696933	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6841948	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7664556	0.89[ASN][1000 genomes]
rs7677869	0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised 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	9 gene(s)	inside rSNPs	diseases
6	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7974400-7989400	Weak transcription	Gastric	stomach
3	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
4	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
7	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:7980600-7987400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:7980800-7987200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:7980800-7987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:7981000-7987400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:7981000-7987600	Weak transcription	Right Atrium	heart
14	chr4:7981000-7987800	Weak transcription	Left Ventricle	heart
15	chr4:7981000-7989400	Weak transcription	A549	lung
16	chr4:7981000-7992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:7981200-7987200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:7981400-7986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:7981400-7987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:7981600-7987400	Weak transcription	Lung	lung
21	chr4:7981600-7989400	Weak transcription	Esophagus	oesophagus
22	chr4:7981800-7987000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:7982000-7986200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:7982000-7986200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:7982000-7987400	Weak transcription	HUVEC	blood vessel
26	chr4:7982000-7987400	Weak transcription	NH-A	brain
27	chr4:7982000-7987600	Weak transcription	Osteobl	bone
28	chr4:7982200-7987400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:7982200-7987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:7983000-7986400	Enhancers	Fetal Intestine Small	intestine
31	chr4:7983200-7986000	Enhancers	Fetal Intestine Large	intestine
32	chr4:7983200-7987400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:7983600-7987400	Weak transcription	Fetal Heart	heart
34	chr4:7983600-7988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:7983800-7986000	Strong transcription	Spleen	Spleen
36	chr4:7983800-7987800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:7984000-7986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:7984000-7987600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:7984200-7986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:7984200-7987400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:7984600-7986400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:7984800-7986400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr4:7984800-7986800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
45	chr4:7985600-7986000	Enhancers	Colonic Mucosa	Colon
46	chr4:7985600-7987800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:7985800-7986000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7985800-7986800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:7985800-7987400	Bivalent Enhancer	HepG2	liver

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