Variant report

Variant	rs4243655
Chromosome Location	chr14:77906686-77906687
allele	A/G
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: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1008669	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136221	1.00[EUR][1000 genomes]
rs10873305	1.00[AMR][1000 genomes]
rs17105743	1.00[AMR][1000 genomes]
rs176769	0.92[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs176780	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs176782	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2364157	0.97[MKK][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364158	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364159	0.84[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs58378884	1.00[AMR][1000 genomes]
rs61729313	1.00[AMR][1000 genomes]
rs7141931	1.00[EUR][1000 genomes]
rs760258	1.00[MEX][hapmap]
rs8006819	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022549	0.85[AMR][1000 genomes]
rs8135	0.84[ASW][hapmap]
rs926114	1.00[MEX][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4243655	KCTD14	trans	lymphoblastoid	seeQTL

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	chr14:77899200-77906800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:77899200-77907600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:77899400-77907600	Weak transcription	HMEC	breast
38	chr14:77900800-77907600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:77900800-77908600	Weak transcription	Fetal Brain Male	brain
40	chr14:77901600-77907400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:77902000-77907400	Weak transcription	A549	lung
43	chr14:77902200-77907200	Weak transcription	HUVEC	blood vessel
44	chr14:77902200-77907400	Weak transcription	Right Ventricle	heart
45	chr14:77902400-77907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:77902400-77907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:77902400-77907400	Weak transcription	Fetal Kidney	kidney
48	chr14:77902400-77907800	Weak transcription	Pancreas	Pancrea
49	chr14:77902600-77907400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:77902600-77908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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