Variant report

Variant	rs28599756
Chromosome Location	chr14:77906936-77906937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77906551..77909013-chr14:77909265..77912067,3	K562	blood:
2	chr14:77901715..77909086-chr14:77922032..77926412,10	MCF-7	breast:
3	chr14:77895563..77897867-chr14:77905169..77908165,2	K562	blood:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10129477	0.82[AFR][1000 genomes]
rs10130481	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10146635	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151003	0.80[EUR][1000 genomes]
rs10483882	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11159260	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11845345	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11846861	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881960	0.81[EUR][1000 genomes]
rs12885247	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890411	0.82[AFR][1000 genomes]
rs12891177	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892329	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176771	0.81[EUR][1000 genomes]
rs17750993	0.80[EUR][1000 genomes]
rs17824094	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967638	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28602758	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33915834	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34835605	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311406	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67479808	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413461	0.80[EUR][1000 genomes]
rs71413462	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7145606	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146543	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs760252	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003282	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
4	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
5	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
6	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:77887400-77920400	Strong transcription	Liver	Liver
8	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
10	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:77888600-77920000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:77888600-77920600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:77889200-77920400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr14:77889600-77920400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:77893000-77910800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:77893400-77907400	Weak transcription	K562	blood
21	chr14:77894200-77923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:77895200-77907600	Weak transcription	Fetal Heart	heart
23	chr14:77895600-77908600	Weak transcription	Small Intestine	intestine
24	chr14:77895800-77907400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:77896000-77907400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:77896000-77908600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:77896200-77907400	Weak transcription	NHEK	skin
28	chr14:77896200-77907600	Weak transcription	Psoas Muscle	Psoas
29	chr14:77896200-77907600	Weak transcription	HepG2	liver
30	chr14:77896200-77915800	Weak transcription	Hela-S3	cervix
31	chr14:77896200-77923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:77897400-77920600	Strong transcription	Osteobl	bone
33	chr14:77897800-77908800	Weak transcription	Stomach Mucosa	stomach
34	chr14:77898400-77910000	Strong transcription	Brain Anterior Caudate	brain
35	chr14:77899200-77907600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:77899400-77907600	Weak transcription	HMEC	breast
37	chr14:77900800-77907600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:77900800-77908600	Weak transcription	Fetal Brain Male	brain
39	chr14:77901600-77907400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:77902000-77907400	Weak transcription	A549	lung
42	chr14:77902200-77907200	Weak transcription	HUVEC	blood vessel
43	chr14:77902200-77907400	Weak transcription	Right Ventricle	heart
44	chr14:77902400-77907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:77902400-77907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:77902400-77907400	Weak transcription	Fetal Kidney	kidney
47	chr14:77902400-77907800	Weak transcription	Pancreas	Pancrea
48	chr14:77902600-77907400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:77902600-77908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:77903400-77907600	Weak transcription	Brain Germinal Matrix	brain

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