Variant report

Variant	rs16997622
Chromosome Location	chr4:120971282-120971283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120549969..120550595-chr4:120970742..120971442,3	MCF-7	breast:
2	chr4:120970922..120972689-chr4:120977467..120980264,3	K562	blood:
3	chr4:120235624..120236167-chr4:120970907..120971659,2	K562	blood:
4	chr4:120549794..120550449-chr4:120971003..120971739,4	MCF-7	breast:
5	chr4:120970925..120972723-chr4:120974695..120976845,2	MCF-7	breast:
6	chr4:120550452..120551201-chr4:120970722..120971578,2	K562	blood:
7	chr4:120965102..120968292-chr4:120969292..120973289,4	K562	blood:
8	chr4:120548059..120548579-chr4:120971160..120971673,2	K562	blood:
9	chr4:120966303..120968314-chr4:120969694..120972264,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138735	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17009347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009500	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011044	1.00[ASN][1000 genomes]
rs28455564	0.87[EUR][1000 genomes]
rs28616785	0.87[EUR][1000 genomes]
rs72670426	1.00[ASN][1000 genomes]
rs72670430	1.00[ASN][1000 genomes]
rs73845514	0.87[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:62 , 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	chr4:120966000-120975600	Weak transcription	Dnd41	blood
3	chr4:120966400-120976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:120970000-120979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:120970800-120971400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:120971000-120973000	Weak transcription	NHLF	lung
7	chr4:120971000-120974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:120971000-120976400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:120971000-120977000	Weak transcription	A549	lung
10	chr4:120971000-120983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:120971000-120987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:120971200-120971400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:120971200-120972600	Weak transcription	Fetal Lung	lung
14	chr4:120971200-120973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:120971200-120973400	Weak transcription	Fetal Stomach	stomach
16	chr4:120971200-120973400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:120971200-120973800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:120971200-120973800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:120971200-120973800	Weak transcription	NH-A	brain
20	chr4:120971200-120973800	Weak transcription	NHDF-Ad	bronchial
21	chr4:120971200-120973800	Weak transcription	Osteobl	bone
22	chr4:120971200-120974000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:120971200-120974000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:120971200-120974000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:120971200-120974000	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:120971200-120974000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:120971200-120974200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:120971200-120974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:120971200-120974400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:120971200-120974400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:120971200-120974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:120971200-120974600	Weak transcription	GM12878-XiMat	blood
33	chr4:120971200-120975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:120971200-120975600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:120971200-120975600	Weak transcription	Aorta	Aorta
36	chr4:120971200-120975600	Weak transcription	Fetal Thymus	thymus
37	chr4:120971200-120975600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:120971200-120976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:120971200-120976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:120971200-120977200	Weak transcription	Psoas Muscle	Psoas
41	chr4:120971200-120978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:120971200-120978200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:120971200-120978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:120971200-120978200	Weak transcription	K562	blood
45	chr4:120971200-120978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:120971200-120978400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:120971200-120978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:120971200-120979400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:120971200-120979600	Weak transcription	HUVEC	blood vessel
50	chr4:120971200-120980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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