Variant report

Variant	rs72905078
Chromosome Location	chr4:99846174-99846175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99846116-99847328	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99723976..99725619-chr4:99844083..99846468,2	K562	blood:
2	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:
3	chr4:99831130..99833750-chr4:99845211..99847015,2	MCF-7	breast:
4	chr4:99834371..99837889-chr4:99846144..99848239,3	MCF-7	breast:
5	chr4:99834276..99835783-chr4:99846039..99848218,2	MCF-7	breast:
6	chr4:99703168..99705740-chr4:99845055..99847900,2	K562	blood:
7	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
8	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263923	TF binding region
ENSG00000265213	Chromatin interaction
ENSG00000249055	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6833875	1.00[AFR][1000 genomes]
rs6846054	0.95[AFR][1000 genomes]
rs72893508	0.82[AFR][1000 genomes]
rs72893532	1.00[AFR][1000 genomes]
rs72893536	1.00[AFR][1000 genomes]
rs72893542	1.00[AFR][1000 genomes]
rs72893550	1.00[AFR][1000 genomes]
rs72893554	1.00[AFR][1000 genomes]
rs72893558	1.00[AFR][1000 genomes]
rs72905040	1.00[AFR][1000 genomes]
rs72905051	1.00[AFR][1000 genomes]
rs72905084	1.00[AFR][1000 genomes]
rs72905087	0.82[AFR][1000 genomes]
rs72906974	0.95[AFR][1000 genomes]
rs72906977	0.95[AFR][1000 genomes]
rs72906984	0.95[AFR][1000 genomes]
rs72906987	0.95[AFR][1000 genomes]
rs72909404	0.86[AFR][1000 genomes]
rs72909452	0.82[AFR][1000 genomes]
rs72909467	0.82[AFR][1000 genomes]
rs7669447	0.82[AFR][1000 genomes]
rs7672509	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
2	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
4	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
7	chr4:99823000-99847200	Weak transcription	Thymus	Thymus
8	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:99823200-99847800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
15	chr4:99824200-99846800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:99827000-99848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:99827600-99846400	Weak transcription	NH-A	brain
18	chr4:99827600-99846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:99829600-99846800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:99830000-99848200	Weak transcription	Fetal Kidney	kidney
21	chr4:99830200-99846600	Weak transcription	A549	lung
22	chr4:99831000-99849200	Weak transcription	Gastric	stomach
23	chr4:99831200-99848000	Weak transcription	Brain Germinal Matrix	brain
24	chr4:99831200-99848000	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:99831400-99848800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:99831600-99847800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:99831800-99847800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:99832200-99846600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:99832200-99848000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:99832200-99848000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:99832200-99848000	Weak transcription	Fetal Stomach	stomach
32	chr4:99832200-99848000	Weak transcription	NHDF-Ad	bronchial
33	chr4:99832200-99848800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:99832400-99849000	Weak transcription	Right Atrium	heart
35	chr4:99832600-99849200	Weak transcription	Spleen	Spleen
36	chr4:99836000-99846400	Weak transcription	Fetal Lung	lung
37	chr4:99836000-99848000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:99836400-99847000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:99837200-99846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:99837600-99848400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:99838200-99848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:99838400-99848000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:99838400-99848800	Weak transcription	Adipose Nuclei	Adipose
44	chr4:99838600-99846400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:99838600-99846600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:99838600-99848000	Weak transcription	Primary T cells from cord blood	blood
47	chr4:99838800-99847800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:99838800-99848800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:99838800-99848800	Weak transcription	Small Intestine	intestine
50	chr4:99839000-99846400	Weak transcription	K562	blood

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