Variant report

Variant	rs28616785
Chromosome Location	chr4:120980212-120980213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120979559..120981440-chr4:120988106..120989709,2	MCF-7	breast:
2	chr4:120975064..120977095-chr4:120978627..120980325,3	K562	blood:
3	chr4:120970922..120972689-chr4:120977467..120980264,3	K562	blood:

Variant related genes	Relation type
ENSG00000164109	Chromatin interaction
ENSG00000250938	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16997622	0.87[EUR][1000 genomes]
rs17009500	0.87[EUR][1000 genomes]
rs28455564	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845514	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	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879851	chr4:120942372-120984077	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120971000-120983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr4:120971000-120987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:120971200-120980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:120971200-120980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:120971200-120981400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:120971200-120983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:120971200-120985200	Weak transcription	Fetal Kidney	kidney
9	chr4:120971200-120985600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:120971200-120986400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:120971200-120986400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:120971200-120986800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:120971200-120987200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:120971200-120987200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:120971200-120987400	Weak transcription	Left Ventricle	heart
16	chr4:120973800-120980600	Weak transcription	HSMM	muscle
17	chr4:120974200-120984000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:120974400-120983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:120974800-120980400	Weak transcription	NH-A	brain
20	chr4:120974800-120980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:120974800-120983600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:120974800-120983800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:120974800-120984000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:120974800-120984000	Weak transcription	NHLF	lung
25	chr4:120974800-120985200	Weak transcription	NHEK	skin
26	chr4:120975000-120980600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:120975000-120981200	Weak transcription	Osteobl	bone
28	chr4:120975000-120983400	Weak transcription	NHDF-Ad	bronchial
29	chr4:120975000-120984000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:120975000-120985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:120975000-120985400	Weak transcription	Fetal Stomach	stomach
32	chr4:120975000-120985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:120975400-120984200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:120975400-120986800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:120975600-120981400	Strong transcription	Dnd41	blood
36	chr4:120975600-120984800	Strong transcription	Fetal Thymus	thymus
37	chr4:120975800-120985400	Weak transcription	Primary T cells from cord blood	blood
38	chr4:120975800-120986800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:120976000-120980400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:120976200-120985200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:120976200-120985200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:120976200-120985600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:120976400-120984400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:120976400-120985400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr4:120976600-120983400	Weak transcription	HepG2	liver
46	chr4:120977000-120981400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:120977400-120985400	Weak transcription	Fetal Lung	lung
48	chr4:120977400-120986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:120977400-120986600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:120977400-120986800	Weak transcription	Placenta Amnion	Placenta Amnion

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