Variant report

Variant	rs7999175
Chromosome Location	chr13:95867402-95867403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12428470	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12854605	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678400	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678403	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1824911	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1824912	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1824913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1926656	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1926657	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389203	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2766476	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2892707	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782963	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782965	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782966	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782968	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148469	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148470	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148471	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238313	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4303338	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4371040	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4505186	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4520712	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4612933	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4636781	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4771907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4771908	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4773848	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773849	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773853	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773854	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773855	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773857	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6492769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6492771	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321623	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7321744	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7322825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7324706	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7325019	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7329432	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7330776	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7332663	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7333234	0.82[EUR][1000 genomes]
rs7333281	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334994	0.84[ASN][1000 genomes]
rs7335147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7335233	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7983336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7987653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7988494	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899496	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899497	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943288	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516537	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516538	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516539	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9516545	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9524828	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524830	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524836	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524840	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524845	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9524848	0.87[ASN][1000 genomes]
rs9524850	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524856	0.80[AMR][1000 genomes];0.82[EUR][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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95827400-95872400	Weak transcription	NH-A	brain
2	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
3	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
4	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
5	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
8	chr13:95847800-95868200	Weak transcription	Fetal Lung	lung
9	chr13:95847800-95880400	Weak transcription	Ovary	ovary
10	chr13:95850800-95867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:95856400-95898200	Weak transcription	NHEK	skin
13	chr13:95858600-95880400	Weak transcription	Fetal Thymus	thymus
14	chr13:95859000-95874800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:95859000-95878800	Weak transcription	Esophagus	oesophagus
16	chr13:95859000-95879000	Weak transcription	Gastric	stomach
17	chr13:95859000-95885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:95859000-95887800	Weak transcription	HSMM	muscle
19	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
20	chr13:95859200-95880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
22	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:95860600-95869400	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:95860600-95878000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:95860600-95879000	Weak transcription	Fetal Stomach	stomach
26	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:95861800-95867800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:95862200-95868200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
32	chr13:95862400-95879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:95862600-95871400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:95862600-95874600	Weak transcription	Fetal Intestine Large	intestine
35	chr13:95862800-95878000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:95863000-95871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:95863000-95878200	Weak transcription	Fetal Intestine Small	intestine
38	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:95863200-95883400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:95863200-95895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:95865600-95872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:95865800-95868600	Weak transcription	A549	lung
43	chr13:95865800-95871800	Weak transcription	Lung	lung
44	chr13:95865800-95878800	Weak transcription	Left Ventricle	heart
45	chr13:95866000-95871400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:95866000-95874200	Weak transcription	Small Intestine	intestine
47	chr13:95866000-95874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:95866000-95874400	Weak transcription	NHLF	lung
49	chr13:95866000-95874600	Weak transcription	Spleen	Spleen
50	chr13:95866200-95870200	Weak transcription	Duodenum Mucosa	Duodenum

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