Variant report

Variant	rs9919217
Chromosome Location	chr1:210057532-210057533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210051709..210053987-chr1:210055689..210058098,2	MCF-7	breast:
2	chr1:210053168..210055253-chr1:210056848..210058464,2	MCF-7	breast:
3	chr1:210042123..210044687-chr1:210056362..210058775,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1040424	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1040426	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10489346	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10779520	1.00[AFR][1000 genomes]
rs10779521	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10863796	0.96[AMR][1000 genomes]
rs10863800	0.81[CHD][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10863801	1.00[AFR][1000 genomes]
rs10863806	1.00[AFR][1000 genomes]
rs10863809	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119359	0.84[ASN][1000 genomes]
rs11119361	0.94[AMR][1000 genomes]
rs11119362	0.94[AMR][1000 genomes]
rs11119371	1.00[AFR][1000 genomes]
rs11119373	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119384	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119388	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119391	1.00[AFR][1000 genomes]
rs11119394	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119398	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11119403	0.89[EUR][1000 genomes]
rs12057832	1.00[AFR][1000 genomes]
rs12059828	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12061641	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12062600	0.82[ASN][1000 genomes]
rs12063989	0.82[ASN][1000 genomes]
rs12064085	0.82[ASN][1000 genomes]
rs12064211	0.82[ASN][1000 genomes]
rs12064990	1.00[AFR][1000 genomes]
rs12065575	1.00[AFR][1000 genomes]
rs12066340	0.86[ASN][1000 genomes]
rs12069592	1.00[AFR][1000 genomes]
rs12073617	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12078157	0.82[ASN][1000 genomes]
rs12078802	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12079812	0.94[AMR][1000 genomes]
rs12079916	0.89[EUR][1000 genomes]
rs12084199	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12089449	1.00[AFR][1000 genomes]
rs12094309	1.00[AFR][1000 genomes]
rs12094626	0.89[EUR][1000 genomes]
rs12354000	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12401574	1.00[AFR][1000 genomes]
rs12403002	1.00[AFR][1000 genomes]
rs12405519	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12405601	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12409582	1.00[AFR][1000 genomes]
rs12563527	0.84[ASN][1000 genomes]
rs12563982	0.89[EUR][1000 genomes]
rs12565072	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12566314	1.00[AFR][1000 genomes]
rs12566616	0.89[EUR][1000 genomes]
rs1387932	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17015564	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17015565	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17015566	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1883332	0.80[ASN][1000 genomes]
rs2130625	1.00[AFR][1000 genomes]
rs35163211	0.89[EUR][1000 genomes]
rs4393158	1.00[AFR][1000 genomes]
rs4844496	0.90[CHB][hapmap]
rs4844501	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844502	0.89[EUR][1000 genomes]
rs4844507	1.00[AFR][1000 genomes]
rs4844908	0.84[ASN][1000 genomes]
rs4844916	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844923	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844924	1.00[AFR][1000 genomes]
rs4844928	1.00[AFR][1000 genomes]
rs4844935	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844936	1.00[AFR][1000 genomes]
rs4844937	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844938	0.89[EUR][1000 genomes]
rs4844939	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844940	0.89[EUR][1000 genomes]
rs4844941	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844942	0.89[EUR][1000 genomes]
rs4844943	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844944	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4844945	1.00[AFR][1000 genomes]
rs6540547	1.00[AFR][1000 genomes]
rs713114	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72468062	0.89[EUR][1000 genomes]
rs72649912	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649913	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649914	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649920	0.89[EUR][1000 genomes]
rs72649921	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649923	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649924	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649925	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649937	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649938	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649940	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649948	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72649949	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs760768	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9787400	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210053600-210057800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:210053600-210058000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:210053600-210058800	Enhancers	Brain Hippocampus Middle	brain
4	chr1:210055600-210060400	Enhancers	HSMMtube	muscle
5	chr1:210055800-210057800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:210055800-210058400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:210055800-210058400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:210055800-210060000	Weak transcription	Pancreas	Pancrea
9	chr1:210055800-210060200	Enhancers	HSMM	muscle
10	chr1:210056200-210058400	Enhancers	Fetal Brain Female	brain
11	chr1:210056200-210058600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:210056200-210060400	Enhancers	NHEK	skin
13	chr1:210056400-210057600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:210056400-210058000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:210056400-210058400	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:210056400-210058600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:210056400-210058800	Enhancers	HUVEC	blood vessel
18	chr1:210056400-210059000	Enhancers	NHLF	lung
19	chr1:210056400-210059400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:210056400-210059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:210056400-210060400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:210056400-210060400	Enhancers	HMEC	breast
23	chr1:210056600-210057800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:210056600-210057800	Enhancers	Brain Anterior Caudate	brain
25	chr1:210056600-210058200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210056600-210058200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:210056600-210058400	Enhancers	Brain Angular Gyrus	brain
28	chr1:210056600-210058800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:210056600-210060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:210056600-210060200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:210056800-210057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:210056800-210057800	Enhancers	Hela-S3	cervix
33	chr1:210056800-210058600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:210056800-210059400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:210057000-210057600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:210057000-210057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:210057000-210058000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:210057000-210058000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:210057000-210059200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:210057200-210057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:210057200-210058000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:210057200-210058200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:210057200-210058200	Flanking Active TSS	NH-A	brain
44	chr1:210057200-210058600	Flanking Active TSS	Osteobl	bone
45	chr1:210057200-210059800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:210057400-210057600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:210057400-210057800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:210057400-210058200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:210057400-210058200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:210057400-210058600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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