Variant report

Variant	rs4448320
Chromosome Location	chr8:121604734-121604735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10089944	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099784	0.80[ASN][1000 genomes]
rs10102980	0.80[ASN][1000 genomes]
rs10103010	0.80[ASN][1000 genomes]
rs10104248	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104255	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108821	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109195	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10113166	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28415690	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28561998	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28716772	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4259452	0.83[ASN][1000 genomes]
rs4329308	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4338145	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4409430	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514023	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4514024	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4515596	0.86[EUR][1000 genomes]
rs4521809	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4556123	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55646138	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55704534	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57500848	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57589495	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57622256	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57854118	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57931690	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58181006	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58342310	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58929354	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896584	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60307797	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61312574	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469936	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6981454	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999024	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010052	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017780	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680550	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680551	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680552	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680553	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680554	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680556	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72680558	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680559	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680560	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680561	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680564	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680565	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680599	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73705090	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73707305	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73708912	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7812594	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814782	0.80[ASN][1000 genomes]
rs7824154	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7824846	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826902	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827232	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827807	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828280	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7835353	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845125	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7845469	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
3	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:121596800-121606200	Enhancers	NHLF	lung
10	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:121597000-121605000	Enhancers	HSMMtube	muscle
12	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:121598400-121604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:121598800-121605000	Weak transcription	Lung	lung
16	chr8:121599000-121604800	Weak transcription	Pancreas	Pancrea
17	chr8:121599000-121605400	Weak transcription	Left Ventricle	heart
18	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:121599600-121606200	Enhancers	NHDF-Ad	bronchial
20	chr8:121600000-121605000	Enhancers	HSMM	muscle
21	chr8:121600000-121605400	Weak transcription	Psoas Muscle	Psoas
22	chr8:121600200-121605000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:121600600-121609200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:121600800-121605600	Strong transcription	HepG2	liver
25	chr8:121601200-121606400	Enhancers	Fetal Muscle Leg	muscle
26	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:121601400-121605000	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:121602000-121605000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:121602000-121605400	Weak transcription	Gastric	stomach
30	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
31	chr8:121602200-121604800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:121602400-121605600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:121602400-121609200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:121602800-121604800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:121602800-121604800	Weak transcription	Liver	Liver
36	chr8:121602800-121604800	Weak transcription	Fetal Kidney	kidney
37	chr8:121602800-121605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:121602800-121605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121602800-121605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:121602800-121605200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:121602800-121606800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:121602800-121609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:121603000-121604800	Weak transcription	Osteobl	bone
44	chr8:121603000-121605400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:121603000-121605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:121603000-121605600	Weak transcription	Fetal Lung	lung
47	chr8:121603200-121604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:121603200-121605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:121603400-121605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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