Variant report

Variant	rs55675740
Chromosome Location	chr2:10920088-10920089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10919808..10922131-chr2:10929132..10931329,2	K562	blood:
2	chr2:10919855..10921861-chr2:10927232..10928745,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1198844	0.90[EUR][1000 genomes]
rs1198845	0.90[EUR][1000 genomes]
rs1198846	0.90[EUR][1000 genomes]
rs12463454	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12464402	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12464513	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468989	0.90[EUR][1000 genomes]
rs12471725	0.85[ASN][1000 genomes]
rs12471762	0.85[ASN][1000 genomes]
rs12472302	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475790	0.85[ASN][1000 genomes]
rs12477285	0.82[EUR][1000 genomes]
rs17365181	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365209	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365216	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17455708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17456162	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1817747	0.82[ASN][1000 genomes]
rs2046793	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306922	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3856465	0.85[ASN][1000 genomes]
rs3856466	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648622	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55906240	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55975412	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56093996	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56140102	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56143168	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56147885	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56162318	0.90[AFR][1000 genomes]
rs56195743	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56260452	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56264212	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56268818	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66538971	0.91[EUR][1000 genomes]
rs72777379	0.91[EUR][1000 genomes]
rs72777381	0.91[EUR][1000 genomes]
rs72777384	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72777388	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72777393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72779425	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72779433	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72779445	0.85[ASN][1000 genomes]
rs72779451	0.90[AFR][1000 genomes]
rs72779452	0.90[AFR][1000 genomes]
rs72779466	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10913200-10920200	Weak transcription	NH-A	brain
3	chr2:10913400-10920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:10914600-10920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:10914600-10922400	Weak transcription	Fetal Kidney	kidney
6	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:10915000-10921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:10915200-10920200	Weak transcription	HSMMtube	muscle
9	chr2:10915200-10923000	Weak transcription	Fetal Brain Male	brain
10	chr2:10915600-10920200	Weak transcription	HMEC	breast
11	chr2:10915600-10920400	Weak transcription	Stomach Mucosa	stomach
12	chr2:10915600-10921800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
15	chr2:10915800-10929000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:10916000-10920400	Weak transcription	Hela-S3	cervix
17	chr2:10916000-10921800	Weak transcription	Small Intestine	intestine
18	chr2:10916200-10920400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
20	chr2:10916400-10921400	Strong transcription	Fetal Brain Female	brain
21	chr2:10916400-10922200	Weak transcription	Fetal Heart	heart
22	chr2:10916400-10923200	Weak transcription	NHDF-Ad	bronchial
23	chr2:10916400-10923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:10916400-10923600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:10916400-10928600	Strong transcription	Fetal Intestine Small	intestine
26	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
31	chr2:10916800-10937400	Strong transcription	Lung	lung
32	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:10917000-10920600	Strong transcription	Placenta	Placenta
34	chr2:10917000-10926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:10917000-10930400	Strong transcription	GM12878-XiMat	blood
36	chr2:10917000-10930600	Strong transcription	NHEK	skin
37	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
38	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:10917200-10925800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:10917200-10929000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:10917200-10931000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:10917200-10931000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:10917200-10933400	Strong transcription	NHLF	lung
45	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
46	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
48	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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