Variant report

Variant	rs9808477
Chromosome Location	chr2:73301181-73301182
allele	C/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:5)
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	chr2:73300873-73301506	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73297000..73299065-chr2:73300438..73301965,2	MCF-7	breast:
2	chr2:73219946..73220742-chr2:73300201..73301253,3	MCF-7	breast:
3	chr2:73300909..73302911-chr2:73316133..73317647,2	K562	blood:
4	chr2:73300396..73302911-chr2:73315000..73317633,2	K562	blood:
5	chr2:73247423..73249390-chr2:73299554..73302236,2	K562	blood:

No data

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction
ENSG00000135631	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10169188	0.87[AFR][1000 genomes]
rs10184684	0.87[AFR][1000 genomes]
rs10186042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191232	0.91[AFR][1000 genomes]
rs10194871	0.91[AFR][1000 genomes]
rs10201147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211218	0.87[AFR][1000 genomes]
rs13392698	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394310	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406847	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412451	0.91[AFR][1000 genomes]
rs13414995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58219425	1.00[AMR][1000 genomes]
rs59641381	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:73299200-73301800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:73299200-73314800	Weak transcription	Small Intestine	intestine
3	chr2:73299400-73302000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:73299400-73302000	Weak transcription	Esophagus	oesophagus
5	chr2:73299400-73302000	Weak transcription	Ovary	ovary
6	chr2:73299400-73302200	Weak transcription	Lung	lung
7	chr2:73299400-73306800	Weak transcription	Fetal Brain Male	brain
8	chr2:73299400-73314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:73299400-73314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:73299400-73318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:73299400-73318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:73299600-73301200	Weak transcription	Pancreas	Pancrea
13	chr2:73299600-73301200	Weak transcription	HSMMtube	muscle
14	chr2:73299600-73301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:73299600-73301400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:73299600-73301400	Weak transcription	Colonic Mucosa	Colon
17	chr2:73299600-73301400	Weak transcription	Fetal Brain Female	brain
18	chr2:73299600-73301400	Weak transcription	Gastric	stomach
19	chr2:73299600-73301400	Weak transcription	NH-A	brain
20	chr2:73299600-73301600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:73299600-73301800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:73299600-73302000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:73299600-73302000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:73299600-73302000	Weak transcription	Right Ventricle	heart
25	chr2:73299600-73302000	Weak transcription	A549	lung
26	chr2:73299600-73302200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:73299600-73302200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:73299600-73302200	Weak transcription	Hela-S3	cervix
29	chr2:73299600-73302600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:73299600-73302800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:73299600-73303000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:73299600-73305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:73299600-73305600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:73299600-73306400	Weak transcription	Brain Anterior Caudate	brain
35	chr2:73299600-73306600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:73299600-73306600	Weak transcription	Left Ventricle	heart
37	chr2:73299600-73307600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:73299600-73307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:73299600-73312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:73299600-73314200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:73299600-73314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:73299600-73314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:73299600-73315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:73299600-73316000	Weak transcription	NHDF-Ad	bronchial
45	chr2:73299600-73319400	Weak transcription	K562	blood
46	chr2:73299800-73301200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:73299800-73301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:73299800-73301600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:73299800-73302000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:73299800-73302400	Weak transcription	Psoas Muscle	Psoas

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