Variant report

Variant	rs73548855
Chromosome Location	chr13:95928127-95928128
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95927378..95929483-chr13:95944855..95946497,2	K562	blood:
2	chr13:95924370..95928427-chr13:95951382..95954630,5	K562	blood:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56891151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57865776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58423375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58751681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59514866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59517595	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59742238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60211292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60577821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60769464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60895967	1.00[AMR][1000 genomes]
rs61177274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61353550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6492773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7324277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325419	1.00[AMR][1000 genomes]
rs7338478	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548861	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551406	1.00[AMR][1000 genomes]
rs73551407	1.00[AMR][1000 genomes]
rs73551420	1.00[AMR][1000 genomes]
rs7987823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv900926	chr13:95927386-95972496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv900927	chr13:95927386-95975185	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
4	chr13:95920200-95928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
6	chr13:95920600-95928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:95922800-95928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:95924200-95930800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:95924600-95928400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:95924800-95932200	Weak transcription	HUVEC	blood vessel
14	chr13:95925400-95929000	Enhancers	Colon Smooth Muscle	Colon
15	chr13:95925600-95928200	Enhancers	Stomach Mucosa	stomach
16	chr13:95925600-95929000	Enhancers	NHLF	lung
17	chr13:95925800-95928600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:95925800-95928800	Enhancers	Fetal Stomach	stomach
19	chr13:95925800-95929000	Enhancers	Fetal Lung	lung
20	chr13:95925800-95932200	Weak transcription	Psoas Muscle	Psoas
21	chr13:95926200-95928400	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:95926200-95928600	Enhancers	Fetal Intestine Large	intestine
23	chr13:95926200-95928600	Enhancers	Pancreas	Pancrea
24	chr13:95926200-95929000	Enhancers	Small Intestine	intestine
25	chr13:95926400-95928400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr13:95926400-95928400	Enhancers	Fetal Intestine Small	intestine
27	chr13:95926400-95928400	Enhancers	Fetal Kidney	kidney
28	chr13:95926400-95928600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:95926400-95928600	Enhancers	HepG2	liver
30	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:95926800-95928200	Enhancers	Brain Germinal Matrix	brain
32	chr13:95926800-95931400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:95926800-95932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:95927000-95930200	Weak transcription	Right Atrium	heart
36	chr13:95927000-95930600	Weak transcription	Left Ventricle	heart
37	chr13:95927000-95930600	Weak transcription	Spleen	Spleen
38	chr13:95927000-95931400	Enhancers	K562	blood
39	chr13:95927000-95932000	Weak transcription	Right Ventricle	heart
40	chr13:95927000-95932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:95927000-95937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:95927000-95938000	Weak transcription	Colonic Mucosa	Colon
43	chr13:95927200-95928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:95927200-95928400	Enhancers	Liver	Liver
45	chr13:95927200-95928600	Enhancers	GM12878-XiMat	blood
46	chr13:95927200-95928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:95927200-95932000	Weak transcription	Lung	lung
48	chr13:95927200-95941600	Weak transcription	Gastric	stomach
49	chr13:95927400-95928200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:95927400-95928400	Enhancers	Cortex derived primary cultured neurospheres	brain

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