Variant report

Variant	rs28480333
Chromosome Location	chr7:138211590-138211591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138210663..138212174-chr7:138214247..138217057,2	K562	blood:
2	chr7:138209195..138211735-chr7:138245939..138248428,2	K562	blood:
3	chr7:138205781..138207854-chr7:138211027..138215042,3	K562	blood:
4	chr7:138208149..138212186-chr7:138212617..138217057,4	K562	blood:
5	chr7:138205992..138209636-chr7:138210985..138213741,4	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10216325	0.89[AFR][1000 genomes]
rs10224063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	1.00[AMR][1000 genomes]
rs10226487	1.00[AMR][1000 genomes]
rs10227148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231698	1.00[AMR][1000 genomes]
rs10232500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	1.00[AMR][1000 genomes]
rs10237069	1.00[AMR][1000 genomes]
rs10239129	1.00[AMR][1000 genomes]
rs10239932	1.00[AMR][1000 genomes]
rs10240387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	1.00[AMR][1000 genomes]
rs10248027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	1.00[AMR][1000 genomes]
rs10249171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254196	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	1.00[AMR][1000 genomes]
rs10256094	1.00[AMR][1000 genomes]
rs10256953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	1.00[AMR][1000 genomes]
rs10262919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10281429	1.00[AMR][1000 genomes]
rs1073255	1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[AMR][1000 genomes]
rs28361932	1.00[AMR][1000 genomes]
rs28407067	1.00[AMR][1000 genomes]
rs28435503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514575	1.00[AMR][1000 genomes]
rs28546247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AMR][1000 genomes]
rs28608602	1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28688534	1.00[AMR][1000 genomes]
rs28691741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694658	1.00[AMR][1000 genomes]
rs28706910	0.89[AFR][1000 genomes]
rs28707292	1.00[AMR][1000 genomes]
rs28714460	1.00[AMR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28840122	0.81[AFR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs9986844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
2	chr7:138178600-138212200	Weak transcription	NHLF	lung
3	chr7:138190200-138212200	Weak transcription	HMEC	breast
4	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
5	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
6	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:138197400-138212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:138197600-138211800	Weak transcription	Fetal Brain Male	brain
10	chr7:138197600-138212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:138198000-138212200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:138199200-138212200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:138199400-138212400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:138201200-138212200	Strong transcription	Liver	Liver
15	chr7:138202200-138212200	Weak transcription	Small Intestine	intestine
16	chr7:138204200-138211600	Weak transcription	Fetal Heart	heart
17	chr7:138204400-138212000	Weak transcription	Brain Substantia Nigra	brain
18	chr7:138204400-138212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:138204400-138212200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:138204400-138212400	Weak transcription	NHEK	skin
21	chr7:138204600-138216200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:138204800-138212200	Weak transcription	HUVEC	blood vessel
23	chr7:138204800-138212600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:138205000-138212200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:138205000-138212200	Weak transcription	Psoas Muscle	Psoas
26	chr7:138205000-138212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:138205000-138212400	Weak transcription	Gastric	stomach
28	chr7:138205000-138212600	Weak transcription	Aorta	Aorta
29	chr7:138205400-138212200	Weak transcription	Right Ventricle	heart
30	chr7:138205400-138212600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:138205800-138212400	Weak transcription	HSMMtube	muscle
32	chr7:138206000-138212400	Weak transcription	NH-A	brain
33	chr7:138206200-138212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:138206200-138212200	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:138206200-138212200	Weak transcription	Osteobl	bone
36	chr7:138206200-138212400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:138207200-138212600	Weak transcription	Fetal Stomach	stomach
38	chr7:138207800-138215800	ZNF genes & repeats	K562	blood
39	chr7:138208200-138212600	Weak transcription	Hela-S3	cervix
40	chr7:138208200-138213800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr7:138208200-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:138208400-138214600	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr7:138208600-138213200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr7:138208600-138214400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr7:138208600-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:138209000-138212000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:138209200-138211800	Strong transcription	HepG2	liver
48	chr7:138209200-138214600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr7:138209400-138213000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr7:138209400-138216000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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