Variant report

Variant	rs3819987
Chromosome Location	chr1:210550034-210550035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210549868..210552421-chr1:210574134..210576852,2	K562	blood:
2	chr1:210548070..210550823-chr1:211662060..211664424,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489387	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119480	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1883655	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015743	0.81[JPT][hapmap]
rs2066721	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs2103691	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2294844	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2294847	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294848	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3765864	0.90[ASN][1000 genomes]
rs3765867	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765868	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765869	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3765873	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765880	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4336853	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844522	0.94[CEU][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes]
rs4845010	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs589027	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs6540590	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540591	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs684767	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs761170	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs761172	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764585	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs910028	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs910033	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs9970232	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210536800-210551000	Weak transcription	Right Ventricle	heart
3	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
4	chr1:210537000-210550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
6	chr1:210543200-210555800	Weak transcription	Right Atrium	heart
7	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210543400-210551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210546000-210550200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:210547200-210550400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:210547200-210550800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:210547600-210555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210547800-210550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:210548000-210551000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:210548200-210550800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:210548400-210550800	Weak transcription	HMEC	breast
18	chr1:210548600-210550200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:210548600-210556000	Weak transcription	HepG2	liver
20	chr1:210548600-210566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:210549000-210551000	Weak transcription	A549	lung
22	chr1:210549600-210552600	Enhancers	HSMMtube	muscle
23	chr1:210549600-210552600	Enhancers	Osteobl	bone
24	chr1:210549600-210552800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:210549800-210550200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:210549800-210550200	Flanking Active TSS	HSMM	muscle
27	chr1:210549800-210551200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:210549800-210551200	Enhancers	NHLF	lung
29	chr1:210549800-210551400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:210549800-210552800	Enhancers	NHDF-Ad	bronchial
31	chr1:210550000-210550400	Enhancers	Brain Anterior Caudate	brain
32	chr1:210550000-210551000	Enhancers	NH-A	brain
33	chr1:210550000-210551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:210550000-210552600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:210550000-210552800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:210550000-210553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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