Variant report

Variant	rs10921304
Chromosome Location	chr1:192991783-192991784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10733078	0.81[ASN][1000 genomes]
rs10737620	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10801167	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801173	0.84[ASN][1000 genomes]
rs10801174	0.82[ASN][1000 genomes]
rs10921305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921308	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10921310	0.82[ASN][1000 genomes]
rs10921312	0.82[ASN][1000 genomes]
rs10921313	0.82[ASN][1000 genomes]
rs11583763	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12086884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12141392	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12735445	0.89[ASN][1000 genomes]
rs1555555	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1890660	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2181408	0.82[ASN][1000 genomes]
rs2275444	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2370079	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2370081	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3753948	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3818865	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820417	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3945872	0.87[ASN][1000 genomes]
rs4657840	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657842	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4657843	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4657845	0.82[ASN][1000 genomes]
rs4658079	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6663431	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6665069	0.81[ASN][1000 genomes]
rs6671237	0.81[ASN][1000 genomes]
rs6672649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6676322	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6676416	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6692342	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6692805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6703727	0.81[ASN][1000 genomes]
rs7534257	0.86[AMR][1000 genomes]
rs7542466	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547615	0.82[ASN][1000 genomes]
rs7553247	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs912070	0.82[ASN][1000 genomes]
rs912071	0.81[ASN][1000 genomes]
rs9427838	0.84[ASN][1000 genomes]
rs9783104	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv3966	chr1:192976457-193004886	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
3	chr1:192963800-193012400	Weak transcription	NHEK	skin
4	chr1:192963800-193019600	Weak transcription	Ovary	ovary
5	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
6	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
9	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:192973200-192992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:192977600-192992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:192977600-193005200	Weak transcription	A549	lung
15	chr1:192979000-192994400	Weak transcription	HepG2	liver
16	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:192981200-192994600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:192981400-192994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:192982400-192996400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:192982600-192992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:192982600-192995800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:192982600-193002400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:192983000-193017800	Weak transcription	HSMMtube	muscle
25	chr1:192983200-192994400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:192983200-192995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:192983200-192996400	Weak transcription	Fetal Stomach	stomach
28	chr1:192983200-193000000	Weak transcription	Right Ventricle	heart
29	chr1:192983200-193012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:192983200-193018000	Weak transcription	Pancreas	Pancrea
31	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
32	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
33	chr1:192983800-192995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:192984000-192994000	Weak transcription	NH-A	brain
35	chr1:192984000-192995000	Weak transcription	Osteobl	bone
36	chr1:192984000-192996200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:192984000-192997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:192984000-192998200	Weak transcription	NHDF-Ad	bronchial
39	chr1:192984200-192994400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:192984200-193026600	Weak transcription	NHLF	lung
41	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
42	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:192986200-193012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:192986400-192992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:192987000-193009200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
47	chr1:192987800-192993000	Strong transcription	K562	blood
48	chr1:192987800-192994600	Weak transcription	Hela-S3	cervix
49	chr1:192988600-192997800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:192988600-193008400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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