Variant report

Variant	rs2265777
Chromosome Location	chr13:48846412-48846413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48605353..48607010-chr13:48845473..48847893,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11840676	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171989	0.92[EUR][1000 genomes]
rs185587	0.84[EUR][1000 genomes]
rs198559	0.92[EUR][1000 genomes]
rs198565	0.92[EUR][1000 genomes]
rs198566	0.92[EUR][1000 genomes]
rs198567	0.92[EUR][1000 genomes]
rs198572	0.92[EUR][1000 genomes]
rs198573	0.92[EUR][1000 genomes]
rs198583	0.92[EUR][1000 genomes]
rs198587	0.92[EUR][1000 genomes]
rs198600	0.92[EUR][1000 genomes]
rs198601	0.92[EUR][1000 genomes]
rs198613	0.92[EUR][1000 genomes]
rs198616	0.92[EUR][1000 genomes]
rs198617	0.92[EUR][1000 genomes]
rs198618	0.92[EUR][1000 genomes]
rs198628	0.92[EUR][1000 genomes]
rs198632	0.92[EUR][1000 genomes]
rs198636	0.92[EUR][1000 genomes]
rs2245534	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515668	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804082	0.92[EUR][1000 genomes]
rs2804084	0.92[EUR][1000 genomes]
rs2804085	0.92[EUR][1000 genomes]
rs2804086	0.92[EUR][1000 genomes]
rs2804087	0.92[EUR][1000 genomes]
rs2804088	0.92[EUR][1000 genomes]
rs2804089	0.92[EUR][1000 genomes]
rs2804091	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804092	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854352	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854356	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854363	0.92[EUR][1000 genomes]
rs2854364	0.92[EUR][1000 genomes]
rs2854365	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2984828	0.92[EUR][1000 genomes]
rs3020646	0.92[EUR][1000 genomes]
rs411661	0.84[EUR][1000 genomes]
rs411862	0.92[EUR][1000 genomes]
rs4151590	0.84[EUR][1000 genomes]
rs416156	0.92[EUR][1000 genomes]
rs428431	0.92[EUR][1000 genomes]
rs4625624	1.00[EUR][1000 genomes]
rs547747	0.92[EUR][1000 genomes]
rs61507973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318012	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990103	0.92[EUR][1000 genomes]
rs8001351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285166	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316371	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332281	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562817	0.92[EUR][1000 genomes]
rs9591153	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591155	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591163	0.92[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]
rs9595894	0.92[EUR][1000 genomes]
rs9595909	0.92[EUR][1000 genomes]
rs9595910	0.92[EUR][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
2	chr13:48835800-48849400	Weak transcription	NHLF	lung
3	chr13:48837800-48848000	Weak transcription	A549	lung
4	chr13:48837800-48848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:48837800-48848600	Weak transcription	Fetal Brain Female	brain
6	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:48838000-48847000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:48838000-48847800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:48838000-48847800	Weak transcription	Psoas Muscle	Psoas
11	chr13:48838000-48849600	Weak transcription	Right Ventricle	heart
12	chr13:48838000-48850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:48838000-48850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
15	chr13:48838200-48849600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:48838400-48846600	Weak transcription	NHDF-Ad	bronchial
17	chr13:48838400-48847000	Weak transcription	Brain Substantia Nigra	brain
18	chr13:48839800-48848600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:48840000-48851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:48840200-48846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:48841800-48852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:48843800-48847000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:48843800-48849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:48843800-48850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:48844000-48847600	Weak transcription	Fetal Kidney	kidney
28	chr13:48844000-48849800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:48844000-48850600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr13:48844200-48847800	Weak transcription	Brain Angular Gyrus	brain
31	chr13:48844200-48848400	Weak transcription	Fetal Lung	lung
32	chr13:48844200-48850000	Weak transcription	HSMM	muscle
33	chr13:48844200-48850600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:48844200-48853000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:48844400-48846600	Weak transcription	Primary B cells from cord blood	blood
36	chr13:48844400-48846800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:48844400-48846800	Weak transcription	Spleen	Spleen
38	chr13:48844400-48847000	Weak transcription	Thymus	Thymus
39	chr13:48844400-48847200	Weak transcription	Adipose Nuclei	Adipose
40	chr13:48844400-48847200	Weak transcription	Lung	lung
41	chr13:48844400-48849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:48844400-48849800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr13:48844400-48849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:48844400-48850000	Weak transcription	Left Ventricle	heart
45	chr13:48844400-48850200	Weak transcription	Fetal Stomach	stomach
46	chr13:48844400-48850200	Weak transcription	Ovary	ovary
47	chr13:48844400-48851400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:48844400-48851600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:48844400-48853000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:48844400-48853000	Weak transcription	Brain Anterior Caudate	brain

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