Variant report

Variant	rs9999457
Chromosome Location	chr4:16234878-16234879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16230488..16232179-chr4:16234227..16236390,2	MCF-7	breast:
2	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:
3	chr4:16234324..16237129-chr4:16262058..16264893,2	K562	blood:
4	chr4:16051882..16054680-chr4:16233913..16235649,2	MCF-7	breast:
5	chr4:16227416..16229454-chr4:16230827..16235422,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10004142	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10014098	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10033234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483204	0.87[AFR][1000 genomes]
rs28524014	1.00[AMR][1000 genomes]
rs28525607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634046	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816631	1.00[AMR][1000 genomes]
rs6847134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73798722	1.00[AMR][1000 genomes]
rs73802010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684779	1.00[AMR][1000 genomes]
rs9993432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
2	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
3	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:16229600-16254000	Weak transcription	Ovary	ovary
5	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
6	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
7	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
9	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
11	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:16231600-16235000	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:16232200-16244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:16232600-16238200	Enhancers	Fetal Brain Male	brain
17	chr4:16232800-16235400	Weak transcription	Right Ventricle	heart
18	chr4:16233800-16237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:16234000-16235000	Weak transcription	Fetal Kidney	kidney
20	chr4:16234000-16235800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:16234000-16237600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:16234000-16237800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:16234000-16238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:16234000-16239800	Weak transcription	Stomach Mucosa	stomach
25	chr4:16234000-16252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:16234000-16252400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:16234200-16235000	Enhancers	Primary B cells from cord blood	blood
29	chr4:16234200-16235400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:16234200-16235400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:16234200-16235600	Enhancers	Brain Anterior Caudate	brain
32	chr4:16234200-16237000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:16234200-16237400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:16234200-16244800	Weak transcription	Right Atrium	heart
35	chr4:16234200-16254400	Weak transcription	NHDF-Ad	bronchial
36	chr4:16234200-16257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:16234400-16236000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:16234400-16236600	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:16234400-16237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:16234400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:16234400-16247800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:16234400-16247800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:16234400-16252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:16234600-16235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:16234600-16235400	Weak transcription	Brain Angular Gyrus	brain
48	chr4:16234600-16239200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:16234600-16246600	Weak transcription	Adipose Nuclei	Adipose
50	chr4:16234800-16235600	Enhancers	Brain Germinal Matrix	brain

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