Variant report

Variant	rs1908141
Chromosome Location	chr1:212393720-212393721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212389745..212391730-chr1:212393335..212395896,2	K562	blood:
2	chr1:212393346..212396328-chr1:212457940..212460726,2	K562	blood:
3	chr1:212391958..212394846-chr1:212458658..212460726,2	K562	blood:
4	chr1:212374422..212376046-chr1:212392215..212393758,2	K562	blood:
5	chr1:212325848..212328405-chr1:212392780..212395278,2	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11800208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801902	0.81[AMR][1000 genomes]
rs11803526	1.00[EUR][1000 genomes]
rs1342151	1.00[MEX][hapmap]
rs17018697	1.00[EUR][1000 genomes]
rs17018717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018767	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018784	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018792	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4369290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410034	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58388470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665922	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59988047	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61331273	1.00[EUR][1000 genomes]
rs6657771	1.00[MEX][hapmap]
rs6676652	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687793	1.00[EUR][1000 genomes]
rs6701982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078491	1.00[EUR][1000 genomes]
rs73078499	1.00[EUR][1000 genomes]
rs73078504	1.00[AMR][1000 genomes]
rs73078520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078531	1.00[EUR][1000 genomes]
rs73078536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73080522	0.81[AMR][1000 genomes]
rs74138110	1.00[AMR][1000 genomes]
rs7515005	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7518332	0.93[AFR][1000 genomes]
rs7530958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533954	1.00[EUR][1000 genomes]
rs7534621	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537172	1.00[EUR][1000 genomes]
rs7538315	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs884208	1.00[AMR][1000 genomes];1.00[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212383400-212394600	Weak transcription	Left Ventricle	heart
2	chr1:212390800-212393800	Enhancers	Fetal Heart	heart
3	chr1:212391000-212393800	Enhancers	Fetal Thymus	thymus
4	chr1:212391000-212393800	Enhancers	Thymus	Thymus
5	chr1:212391000-212393800	Enhancers	NHDF-Ad	bronchial
6	chr1:212391200-212393800	Enhancers	HSMMtube	muscle
7	chr1:212391200-212394000	Enhancers	Fetal Kidney	kidney
8	chr1:212391200-212394000	Enhancers	Fetal Lung	lung
9	chr1:212391200-212399000	Weak transcription	Pancreas	Pancrea
10	chr1:212391600-212393800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:212391800-212393800	Enhancers	HSMM	muscle
12	chr1:212392000-212393800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:212392000-212393800	Enhancers	NH-A	brain
14	chr1:212392000-212396000	Enhancers	K562	blood
15	chr1:212392000-212399400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:212392200-212393800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:212392200-212395200	Weak transcription	Right Atrium	heart
18	chr1:212392200-212398600	Weak transcription	Right Ventricle	heart
19	chr1:212392200-212399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:212392200-212399200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:212392400-212394400	Weak transcription	Gastric	stomach
22	chr1:212392400-212397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:212392400-212398600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:212392600-212397400	Weak transcription	Adipose Nuclei	Adipose
25	chr1:212392600-212399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:212392600-212399200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:212392800-212393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:212392800-212394000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:212393000-212393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:212393000-212393800	Enhancers	Fetal Intestine Large	intestine
32	chr1:212393000-212395400	Enhancers	Spleen	Spleen
33	chr1:212393200-212393800	Enhancers	Fetal Intestine Small	intestine
34	chr1:212393200-212398600	Weak transcription	Primary T cells from cord blood	blood
35	chr1:212393400-212393800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:212393400-212395600	Enhancers	Lung	lung
37	chr1:212393400-212398800	Weak transcription	Stomach Mucosa	stomach
38	chr1:212393600-212394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:212393600-212395000	Weak transcription	Placenta	Placenta
40	chr1:212393600-212398600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:212393600-212398600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:212393600-212398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:212393600-212398800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:212393600-212399200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:212393600-212399200	Weak transcription	Small Intestine	intestine

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