Variant report

Variant	rs9993135
Chromosome Location	chr4:16057323-16057324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10005307	1.00[AMR][1000 genomes]
rs28550447	1.00[AFR][1000 genomes]
rs28613549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9985983	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	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16025800-16057600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:16026400-16066600	Weak transcription	Colonic Mucosa	Colon
3	chr4:16026400-16066600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:16034400-16072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:16036400-16057800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:16039800-16062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:16045600-16057600	Weak transcription	Fetal Brain Female	brain
8	chr4:16045800-16057600	Weak transcription	Right Atrium	heart
9	chr4:16045800-16067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:16046200-16057600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:16046200-16057600	Weak transcription	Gastric	stomach
12	chr4:16046800-16069600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:16047000-16057600	Weak transcription	Pancreas	Pancrea
14	chr4:16049400-16059800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:16050800-16057600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:16050800-16057800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:16050800-16059400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:16050800-16064600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:16050800-16065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:16050800-16066800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:16051000-16058600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:16051000-16059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:16051200-16059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:16051200-16067200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:16052400-16057800	Weak transcription	Aorta	Aorta
26	chr4:16053400-16058400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:16053800-16057600	Weak transcription	Brain Angular Gyrus	brain
28	chr4:16054000-16057400	Weak transcription	Brain Substantia Nigra	brain
29	chr4:16054000-16057600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:16054200-16057400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:16055800-16059200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:16056400-16057800	Enhancers	Fetal Kidney	kidney
33	chr4:16056400-16059800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:16056600-16057800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr4:16056600-16059000	Bivalent Enhancer	Fetal Lung	lung
36	chr4:16056600-16060200	Enhancers	Fetal Brain Male	brain
37	chr4:16056800-16057600	Enhancers	Primary B cells from cord blood	blood
38	chr4:16056800-16057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:16056800-16057800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:16056800-16057800	Weak transcription	Placenta	Placenta
41	chr4:16056800-16058200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:16056800-16059600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:16056800-16059800	Enhancers	Fetal Stomach	stomach
44	chr4:16056800-16060200	Enhancers	Fetal Muscle Leg	muscle
45	chr4:16057000-16057400	Active TSS	Primary hematopoietic stem cells	blood
46	chr4:16057000-16057800	Enhancers	Brain Germinal Matrix	brain
47	chr4:16057000-16058600	Weak transcription	Fetal Heart	heart
48	chr4:16057000-16059800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:16057000-16059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:16057000-16061200	Enhancers	Stomach Mucosa	stomach

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