Variant report

Variant	rs4720308
Chromosome Location	chr7:38914285-38914286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38906917..38908871-chr7:38912756..38915741,2	MCF-7	breast:
2	chr7:38913005..38915768-chr7:38916494..38919026,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10239557	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10242978	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10259755	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10266891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10272767	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1229011	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1859937	0.81[AFR][1000 genomes]
rs2190666	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240555	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2392609	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28722581	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2893567	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35995292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56098802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803397	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9638944	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][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	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38871400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:38873200-38919200	Weak transcription	Pancreas	Pancrea
3	chr7:38879800-38938000	Weak transcription	Right Ventricle	heart
4	chr7:38881200-38919200	Weak transcription	Psoas Muscle	Psoas
5	chr7:38886200-38947800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:38889400-38948200	Weak transcription	Gastric	stomach
7	chr7:38889600-38932600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:38893800-38925600	Weak transcription	Thymus	Thymus
9	chr7:38898400-38920000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:38898600-38928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:38899200-38924200	Weak transcription	Fetal Kidney	kidney
12	chr7:38901800-38920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:38903600-38917400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:38903800-38939600	Weak transcription	A549	lung
15	chr7:38903800-38947000	Weak transcription	Small Intestine	intestine
16	chr7:38905000-38925600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:38905600-38937800	Weak transcription	Colonic Mucosa	Colon
18	chr7:38906000-38920000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:38906000-38947800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:38907800-38919800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:38907800-38922400	Weak transcription	HepG2	liver
22	chr7:38908000-38920000	Weak transcription	Fetal Brain Male	brain
23	chr7:38908000-38941000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:38908200-38916600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:38908200-38917600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:38908200-38917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:38908200-38918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:38908200-38918400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:38908200-38918600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:38908200-38919600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:38908200-38919600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:38908200-38920200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:38908200-38920200	Weak transcription	Brain Angular Gyrus	brain
34	chr7:38908200-38924200	Weak transcription	Lung	lung
35	chr7:38908200-38925600	Weak transcription	Fetal Stomach	stomach
36	chr7:38908200-38932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:38908200-38933800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:38908200-38935000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:38908200-38935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:38908200-38935400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:38908200-38938600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:38908400-38918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:38908600-38916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:38908600-38919200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:38908600-38925800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:38908600-38935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:38908800-38915400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:38908800-38916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:38908800-38916600	Weak transcription	Ovary	ovary
50	chr7:38908800-38917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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