Variant report

Variant	rs61990129
Chromosome Location	chr14:68130928-68130929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68044161..68046768-chr14:68130542..68132483,2	MCF-7	breast:
2	chr14:68130808..68132447-chr14:68132616..68134270,2	MCF-7	breast:
3	chr14:68130358..68132613-chr14:68140051..68141823,2	MCF-7	breast:
4	chr14:68051840..68054093-chr14:68130309..68132445,2	MCF-7	breast:
5	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1117516	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622069	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11629160	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11849521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17782603	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057119	0.92[ASN][1000 genomes]
rs2320027	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784087	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902507	0.92[ASN][1000 genomes]
rs55695655	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55711201	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55790812	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55919049	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56038131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56385621	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61991864	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61991865	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61991866	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs742869	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61990129	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
2	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:68115600-68135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
5	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68120800-68135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:68121400-68132600	Weak transcription	Fetal Heart	heart
8	chr14:68123800-68132800	Weak transcription	NHLF	lung
9	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
10	chr14:68124000-68132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:68124000-68132600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:68124000-68132600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:68124000-68133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68124000-68133800	Weak transcription	Fetal Kidney	kidney
15	chr14:68124000-68136400	Weak transcription	Pancreas	Pancrea
16	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
19	chr14:68124200-68132400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:68124200-68133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:68124200-68133400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:68124400-68132600	Weak transcription	HSMM	muscle
24	chr14:68124400-68132800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68124400-68133400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:68124400-68133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:68124400-68133800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:68124400-68135400	Weak transcription	Brain Germinal Matrix	brain
29	chr14:68124400-68136600	Weak transcription	Gastric	stomach
30	chr14:68124400-68138000	Weak transcription	Ovary	ovary
31	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
32	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
34	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
35	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:68124600-68132800	Weak transcription	K562	blood
38	chr14:68124800-68138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:68124800-68139200	Weak transcription	Lung	lung
40	chr14:68125000-68133400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
42	chr14:68125800-68132800	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:68125800-68138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:68126000-68132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
47	chr14:68126600-68133200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
49	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix
50	chr14:68126600-68140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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