Variant report

Variant	rs56385117
Chromosome Location	chr13:48516687-48516688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10397	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617894	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12561235	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13243	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025703	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2094196	0.90[ASN][1000 genomes]
rs4331249	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4477588	0.94[EUR][1000 genomes]
rs56097393	0.87[EUR][1000 genomes]
rs7324919	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326861	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7331746	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7335662	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7335869	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7339238	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7981492	0.86[EUR][1000 genomes]
rs7981902	0.83[EUR][1000 genomes]
rs7989765	0.90[ASN][1000 genomes]
rs7993196	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9534872	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562772	0.90[ASN][1000 genomes]
rs9562780	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562781	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562783	0.83[AMR][1000 genomes]
rs9562784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562785	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9562786	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9562790	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9562791	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9562794	0.87[EUR][1000 genomes]
rs9562795	0.85[EUR][1000 genomes]
rs9562797	0.85[EUR][1000 genomes]
rs9562798	0.84[EUR][1000 genomes]
rs9567944	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567945	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567946	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567956	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567957	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9567966	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9567967	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9567970	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9567971	0.87[EUR][1000 genomes]
rs9567975	0.85[EUR][1000 genomes]
rs9567977	0.85[EUR][1000 genomes]
rs9567978	0.85[EUR][1000 genomes]
rs9634678	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9634811	0.83[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	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48501000-48531200	Weak transcription	Spleen	Spleen
2	chr13:48502000-48530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48503800-48516800	Weak transcription	NHDF-Ad	bronchial
4	chr13:48506000-48531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48506800-48522600	Weak transcription	Fetal Brain Male	brain
6	chr13:48507200-48524000	Weak transcription	Lung	lung
7	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
8	chr13:48507800-48530600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:48508000-48522400	Weak transcription	GM12878-XiMat	blood
10	chr13:48508000-48531400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:48508200-48520000	Weak transcription	HepG2	liver
12	chr13:48508200-48529600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:48508600-48530800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:48508800-48522000	Weak transcription	NH-A	brain
15	chr13:48509000-48530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:48509200-48528400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:48510800-48517400	Strong transcription	Primary T cells from cord blood	blood
18	chr13:48510800-48517400	Strong transcription	Left Ventricle	heart
19	chr13:48511000-48517600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr13:48511000-48530600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:48511000-48536600	Weak transcription	Esophagus	oesophagus
22	chr13:48511800-48518800	Strong transcription	Dnd41	blood
23	chr13:48511800-48531200	Weak transcription	HUVEC	blood vessel
24	chr13:48512000-48516800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:48512000-48517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48512200-48517600	Strong transcription	Adipose Nuclei	Adipose
27	chr13:48512200-48517600	Strong transcription	Fetal Thymus	thymus
28	chr13:48512200-48522400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:48512200-48530000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr13:48512200-48530800	Weak transcription	Colonic Mucosa	Colon
31	chr13:48512200-48531200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:48512600-48517600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:48512600-48518600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:48512600-48521800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr13:48512600-48522200	Weak transcription	Brain Germinal Matrix	brain
36	chr13:48512600-48527000	Weak transcription	Pancreas	Pancrea
37	chr13:48512600-48529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:48512600-48530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:48512600-48531400	Weak transcription	Aorta	Aorta
40	chr13:48512600-48537600	Weak transcription	Hela-S3	cervix
41	chr13:48512800-48517600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:48512800-48518400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:48512800-48522800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr13:48512800-48531200	Weak transcription	Gastric	stomach
45	chr13:48512800-48533800	Weak transcription	NHLF	lung
46	chr13:48513000-48530400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr13:48513000-48531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:48513200-48517400	Strong transcription	Fetal Brain Female	brain
49	chr13:48513200-48518800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:48513400-48516800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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