Variant report

Variant	rs61977542
Chromosome Location	chr14:70840088-70840089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70824438..70828087-chr14:70835915..70840761,5	MCF-7	breast:
2	chr14:70839508..70842169-chr14:70842644..70844318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133983	Chromatin interaction
ENSG00000222640	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1044527	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11158855	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623974	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11626325	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12146968	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12147722	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147825	0.90[ASN][1000 genomes]
rs12433355	0.93[ASN][1000 genomes]
rs12588244	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589335	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590679	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879801	0.83[ASN][1000 genomes]
rs12887715	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12890415	0.88[ASN][1000 genomes]
rs12892542	0.83[ASN][1000 genomes]
rs2332372	0.91[ASN][1000 genomes]
rs2332373	0.89[ASN][1000 genomes]
rs2332421	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34802428	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35164282	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35186208	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35469188	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35671518	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35859016	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3759774	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61977537	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61977552	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141407	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143274	0.88[ASN][1000 genomes]
rs7144424	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152898	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005362	0.83[ASN][1000 genomes]
rs8014520	0.94[ASN][1000 genomes]
rs8015005	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8015988	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016060	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8021180	0.90[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
rs61977542	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70826800-70842000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70826800-70857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:70827000-70842200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:70827000-70855200	Weak transcription	Esophagus	oesophagus
5	chr14:70827000-70857600	Weak transcription	Small Intestine	intestine
6	chr14:70827000-70864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:70827200-70840800	Weak transcription	Fetal Brain Male	brain
8	chr14:70827200-70842000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:70827200-70864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:70827200-70864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:70827200-70882600	Weak transcription	A549	lung
12	chr14:70827200-70882600	Weak transcription	NH-A	brain
13	chr14:70827400-70845800	Weak transcription	HSMM	muscle
14	chr14:70827400-70846200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:70827600-70840600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:70831600-70841800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:70832000-70872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:70832200-70864200	Weak transcription	GM12878-XiMat	blood
19	chr14:70832600-70858000	Weak transcription	Stomach Mucosa	stomach
20	chr14:70832800-70856600	Weak transcription	HUVEC	blood vessel
21	chr14:70833800-70882400	Weak transcription	NHDF-Ad	bronchial
22	chr14:70834000-70858400	Weak transcription	HepG2	liver
23	chr14:70834200-70864600	Weak transcription	Fetal Thymus	thymus
24	chr14:70834400-70843400	Weak transcription	Fetal Heart	heart
25	chr14:70834400-70847800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:70834600-70844000	Weak transcription	Thymus	Thymus
27	chr14:70834800-70841400	Weak transcription	NHLF	lung
28	chr14:70835400-70856000	Strong transcription	Primary T cells from cord blood	blood
29	chr14:70835600-70853800	Strong transcription	Liver	Liver
30	chr14:70836000-70864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:70836600-70842800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:70836600-70864600	Weak transcription	Brain Germinal Matrix	brain
33	chr14:70836800-70843000	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:70836800-70843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:70836800-70850400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:70837000-70840200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:70837000-70841200	Strong transcription	Brain Hippocampus Middle	brain
38	chr14:70837000-70841200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:70837000-70841600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:70837000-70842400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:70837000-70842600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:70837000-70842600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:70837000-70842600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:70837000-70842600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:70837000-70842600	Strong transcription	Adipose Nuclei	Adipose
46	chr14:70837000-70842600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:70837000-70842600	Strong transcription	Fetal Intestine Large	intestine
48	chr14:70837000-70842600	Strong transcription	Left Ventricle	heart
49	chr14:70837000-70842600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:70837000-70842800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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