Variant report

Variant	rs2182797
Chromosome Location	chr14:55811327-55811328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55811214..55813889-chr14:55823159..55825575,2	MCF-7	breast:
2	chr14:55806216..55808793-chr14:55809475..55811902,3	MCF-7	breast:
3	chr14:55809381..55811401-chr14:55819564..55823074,3	MCF-7	breast:
4	chr14:55737988..55740346-chr14:55809707..55813247,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction
ENSG00000258455	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10131913	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10136596	0.92[EUR][1000 genomes]
rs10137307	0.89[EUR][1000 genomes]
rs10139000	0.93[EUR][1000 genomes]
rs10141483	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10142448	0.92[EUR][1000 genomes]
rs10142547	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10142823	0.82[ASN][1000 genomes]
rs10144345	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144418	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10145203	0.81[EUR][1000 genomes]
rs10147765	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10149420	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10150760	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1045002	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1109170	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11625423	0.82[EUR][1000 genomes]
rs11625968	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626751	0.91[EUR][1000 genomes]
rs11851169	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13379169	0.84[ASN][1000 genomes]
rs1572611	0.88[EUR][1000 genomes]
rs17128440	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17674463	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17674563	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17741542	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17741831	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1815580	0.89[EUR][1000 genomes]
rs1815581	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2009291	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2016931	0.93[EUR][1000 genomes]
rs2209808	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28428911	0.93[EUR][1000 genomes]
rs28430823	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28493647	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28568813	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28612464	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28631821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28660594	0.93[EUR][1000 genomes]
rs28716725	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742569	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783648	0.89[EUR][1000 genomes]
rs3783650	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783652	0.93[EUR][1000 genomes]
rs3825616	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4366639	0.82[EUR][1000 genomes]
rs4496026	0.82[EUR][1000 genomes]
rs4597235	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56270323	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56949365	0.81[EUR][1000 genomes]
rs61210954	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573017	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573020	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66486619	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7144737	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7145727	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146748	0.84[ASN][1000 genomes]
rs7147136	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148171	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7150234	0.82[ASN][1000 genomes]
rs7152390	0.81[ASN][1000 genomes]
rs7153110	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153612	0.81[EUR][1000 genomes]
rs7154889	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158768	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7159144	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005450	0.82[ASN][1000 genomes]
rs8006525	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008119	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8013713	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022041	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022225	0.86[ASN][1000 genomes]
rs9323284	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs946059	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9919926	0.89[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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2182797	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:55782000-55817200	Weak transcription	HSMM	muscle
4	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
6	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:55800000-55817200	Weak transcription	Dnd41	blood
8	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
9	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:55801000-55817200	Weak transcription	HepG2	liver
11	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:55801200-55817200	Weak transcription	Liver	Liver
14	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
16	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:55802200-55817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:55802200-55817400	Weak transcription	Fetal Intestine Small	intestine
21	chr14:55803400-55817200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:55803400-55817200	Weak transcription	Placenta	Placenta
23	chr14:55803600-55817200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:55804800-55811400	Weak transcription	Gastric	stomach
25	chr14:55805200-55811800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:55805200-55813600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:55805200-55817200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:55805400-55812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:55805800-55817600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:55806600-55817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:55806800-55815600	Weak transcription	Fetal Kidney	kidney
32	chr14:55806800-55820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:55807000-55813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55807000-55813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:55807000-55816600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:55807000-55817000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:55807000-55817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:55807000-55817600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:55807200-55811800	Weak transcription	Spleen	Spleen
40	chr14:55807200-55812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:55807200-55813000	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:55807200-55813600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:55807200-55815600	Weak transcription	HMEC	breast
44	chr14:55807200-55817200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:55807200-55817200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:55807200-55817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:55807200-55817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:55807200-55817800	Weak transcription	HSMMtube	muscle
49	chr14:55807400-55813800	Weak transcription	Lung	lung
50	chr14:55807400-55817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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