Variant report

Variant	rs1441997
Chromosome Location	chr13:67378060-67378061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1041025	1.00[AMR][1000 genomes]
rs1323921	1.00[AMR][1000 genomes]
rs1323925	1.00[AMR][1000 genomes]
rs1323928	1.00[AMR][1000 genomes]
rs1442000	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1442007	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1442012	1.00[YRI][hapmap]
rs1442017	0.88[YRI][hapmap]
rs1442019	1.00[YRI][hapmap]
rs1442021	1.00[YRI][hapmap]
rs169001	1.00[AMR][1000 genomes]
rs1886314	0.88[YRI][hapmap]
rs2038721	1.00[AMR][1000 genomes]
rs2053498	0.89[YRI][hapmap]
rs2181533	1.00[YRI][hapmap]
rs2181755	1.00[AMR][1000 genomes]
rs2181881	1.00[AMR][1000 genomes]
rs2181882	1.00[AMR][1000 genomes]
rs2324989	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs260151	1.00[AMR][1000 genomes]
rs260171	1.00[AMR][1000 genomes]
rs2875515	1.00[AMR][1000 genomes]
rs4883791	1.00[AMR][1000 genomes]
rs4884695	0.90[YRI][hapmap]
rs4884703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4884709	1.00[AMR][1000 genomes]
rs4884710	1.00[AMR][1000 genomes]
rs6562477	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6562479	1.00[AMR][1000 genomes]
rs6562480	1.00[AMR][1000 genomes]
rs7322333	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7322354	1.00[AMR][1000 genomes]
rs7324148	0.89[YRI][hapmap]
rs7328555	1.00[AMR][1000 genomes]
rs7984929	1.00[AMR][1000 genomes]
rs7986118	1.00[AMR][1000 genomes]
rs7986616	1.00[AMR][1000 genomes]
rs7986875	1.00[AMR][1000 genomes]
rs7988442	1.00[AMR][1000 genomes]
rs7997315	1.00[AMR][1000 genomes]
rs7998136	0.88[YRI][hapmap]
rs8000196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9529144	0.88[YRI][hapmap]
rs9540962	1.00[AMR][1000 genomes]
rs9540963	1.00[AMR][1000 genomes]
rs958503	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs958743	1.00[AMR][1000 genomes]
rs9599166	1.00[AMR][1000 genomes]
rs974880	1.00[AMR][1000 genomes]
rs974881	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455928	chr13:67212422-67392298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv562131	chr13:67212422-67392298	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900402	chr13:67269546-67379709	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1042768	chr13:67276493-67416565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv523360	chr13:67322714-67520344	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1051576	chr13:67322747-67520255	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv900404	chr13:67325786-67392298	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv900405	chr13:67347245-67446835	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1042756	chr13:67352439-67445867	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv430580	chr13:67352439-67468100	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv562136	chr13:67355618-67485147	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1051623	chr13:67377549-67465276	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67375800-67383600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:67376400-67380600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:67377000-67381200	Enhancers	Brain Anterior Caudate	brain
4	chr13:67377200-67378200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:67377200-67379200	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:67377400-67378200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:67377400-67378200	Enhancers	Fetal Brain Male	brain
8	chr13:67377400-67378200	Enhancers	Fetal Brain Female	brain
9	chr13:67377600-67378200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:67377600-67378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:67377600-67378200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr13:67377600-67378200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:67377600-67378200	Enhancers	Fetal Muscle Leg	muscle
14	chr13:67377600-67378200	Enhancers	Left Ventricle	heart
15	chr13:67377600-67378200	Enhancers	Psoas Muscle	Psoas
16	chr13:67377600-67378600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:67377600-67380600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:67377800-67378200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr13:67378000-67378200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr13:67378000-67378200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr13:67378000-67378200	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr13:67378000-67378200	Flanking Active TSS	Fetal Lung	lung
23	chr13:67378000-67378400	Enhancers	Adipose Nuclei	Adipose
24	chr13:67378000-67378400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr13:67378000-67378400	Enhancers	HSMMtube	muscle
26	chr13:67378000-67380000	Enhancers	Hela-S3	cervix
27	chr13:67378000-67380600	Enhancers	A549	lung

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