Variant report

Variant	rs822521
Chromosome Location	chr1:155838267-155838268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155835432..155838182-chr1:155838226..155840731,2	K562	blood:
2	chr1:155837073..155839733-chr1:155842304..155845191,2	MCF-7	breast:
3	chr1:155837120..155838717-chr1:155843682..155845492,2	MCF-7	breast:
4	chr1:155836334..155839218-chr1:155841025..155842829,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11264417	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs1627630	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs171168	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs1749412	0.93[ASW][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes]
rs1749413	0.83[AFR][1000 genomes]
rs1749414	0.90[AFR][1000 genomes]
rs1756242	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs1765280	0.87[AFR][1000 genomes]
rs1886618	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs2485472	0.90[AFR][1000 genomes]
rs2885676	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs348207	0.88[YRI][hapmap]
rs4581273	0.85[AFR][1000 genomes]
rs512551	0.86[ASW][hapmap]
rs540380	0.93[ASW][hapmap];0.88[YRI][hapmap]
rs6427290	0.85[AFR][1000 genomes]
rs6688399	0.87[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs708613	0.88[YRI][hapmap]
rs822013	0.83[AFR][1000 genomes]
rs822021	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs822027	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs822479	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs822481	0.81[AFR][1000 genomes]
rs822483	0.83[AFR][1000 genomes]
rs822487	0.87[AFR][1000 genomes]
rs822492	0.80[AFR][1000 genomes]
rs822496	0.93[ASW][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs822498	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs822520	1.00[AMR][1000 genomes]
rs866603	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155829600-155841000	Weak transcription	Pancreas	Pancrea
2	chr1:155830000-155869000	Weak transcription	Gastric	stomach
3	chr1:155830200-155841000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:155830400-155840600	Weak transcription	Spleen	Spleen
5	chr1:155830400-155841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:155830400-155843800	Weak transcription	Lung	lung
8	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
9	chr1:155830600-155838400	Weak transcription	Ovary	ovary
10	chr1:155830600-155841000	Weak transcription	Left Ventricle	heart
11	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:155830800-155839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155830800-155839400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155830800-155839600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:155831000-155838400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:155831000-155838400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:155831000-155840000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:155831000-155840800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:155831200-155841200	Weak transcription	NHDF-Ad	bronchial
30	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:155831400-155840400	Weak transcription	Fetal Heart	heart
32	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
33	chr1:155832200-155838400	Weak transcription	GM12878-XiMat	blood
34	chr1:155832600-155841200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:155833400-155839000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:155834600-155838800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:155834600-155850200	Weak transcription	HSMM	muscle
38	chr1:155835000-155840800	Weak transcription	HSMMtube	muscle
39	chr1:155836200-155842000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155836400-155838400	Genic enhancers	Brain Germinal Matrix	brain
41	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
42	chr1:155837200-155838600	Genic enhancers	Brain Angular Gyrus	brain
43	chr1:155837200-155840800	Genic enhancers	Brain Hippocampus Middle	brain
44	chr1:155837200-155840800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:155837200-155841000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:155837200-155841000	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr1:155837200-155841000	Strong transcription	Fetal Stomach	stomach
48	chr1:155837200-155841200	Genic enhancers	Brain Anterior Caudate	brain
49	chr1:155837200-155843000	Weak transcription	Fetal Thymus	thymus
50	chr1:155837400-155838600	Strong transcription	NHLF	lung

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