Variant report

Variant	rs2332421
Chromosome Location	chr14:70801207-70801208
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	chr14:70798672..70801263-chr14:70804505..70807177,2	K562	blood:
2	chr14:70233789..70235348-chr14:70800214..70803158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044527	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11158855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11626325	0.83[ASN][1000 genomes]
rs12146968	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12147722	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147825	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12433355	0.89[ASN][1000 genomes]
rs12588244	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589335	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879801	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12887715	0.83[ASN][1000 genomes]
rs12890415	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2332372	0.80[ASN][1000 genomes]
rs34802428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35164282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35186208	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35469188	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35671518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35859016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759774	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61977537	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61977542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61977552	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141407	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143274	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7144424	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152898	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005362	0.88[ASN][1000 genomes]
rs8014520	0.83[ASN][1000 genomes]
rs8015005	0.80[ASN][1000 genomes]
rs8015988	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021180	0.84[AMR][1000 genomes];0.94[ASN][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2332421	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
3	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
4	chr14:70792800-70825200	Weak transcription	NH-A	brain
5	chr14:70797600-70801400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:70798200-70802200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr14:70798400-70802200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr14:70798400-70804200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:70798600-70801800	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr14:70798600-70802000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr14:70798600-70802200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr14:70798600-70802200	ZNF genes & repeats	Fetal Brain Female	brain
15	chr14:70798600-70802200	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr14:70798600-70802200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr14:70798600-70802200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr14:70798600-70802400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70798600-70802400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr14:70798600-70803800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr14:70798800-70801400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:70798800-70801600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:70798800-70801800	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr14:70798800-70802400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70798800-70802400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr14:70798800-70802600	ZNF genes & repeats	Dnd41	blood
27	chr14:70799000-70802000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:70799000-70802600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:70799000-70802600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr14:70799200-70801600	ZNF genes & repeats	Fetal Kidney	kidney
31	chr14:70799200-70801800	ZNF genes & repeats	Liver	Liver
32	chr14:70799200-70802000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr14:70799200-70803000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:70799400-70801800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:70799400-70802000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:70799400-70802200	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr14:70799400-70802200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:70799400-70802200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr14:70799400-70802200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr14:70799400-70802400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr14:70799600-70801400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr14:70799600-70801600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr14:70799600-70802000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr14:70799600-70802000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
45	chr14:70799800-70801400	ZNF genes & repeats	HepG2	liver
46	chr14:70799800-70801600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr14:70799800-70802200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr14:70799800-70804800	Weak transcription	Fetal Stomach	stomach
49	chr14:70799800-70806000	Weak transcription	Gastric	stomach
50	chr14:70799800-70806200	Weak transcription	Aorta	Aorta

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