Variant report

Variant	rs3784087
Chromosome Location	chr14:68147365-68147366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68044795..68046868-chr14:68146625..68149347,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68086139..68088199-chr14:68146994..68148776,2	K562	blood:
4	chr14:68145632..68149013-chr14:68158288..68160093,3	K562	blood:
5	chr14:68147331..68150030-chr14:68153544..68156182,3	K562	blood:
6	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1117516	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622069	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11629160	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11849521	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782603	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057119	0.98[ASN][1000 genomes]
rs2320027	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902507	0.98[ASN][1000 genomes]
rs55695655	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55711201	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55790812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55919049	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56038131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385621	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61990129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991864	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991865	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991866	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149133	0.84[ASN][1000 genomes]
rs742869	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3784087	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
3	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
7	chr14:68142400-68147800	Weak transcription	Stomach Mucosa	stomach
8	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
10	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
11	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
15	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
16	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
20	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
25	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
30	chr14:68143400-68159600	Strong transcription	Dnd41	blood
31	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:68143800-68147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
37	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:68144200-68148200	Strong transcription	Brain Germinal Matrix	brain
39	chr14:68144200-68148200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:68144200-68148800	Strong transcription	Fetal Lung	lung
41	chr14:68144200-68150400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:68144200-68158400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:68144200-68159400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:68144200-68159600	Strong transcription	HepG2	liver
45	chr14:68144200-68159800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:68144200-68160000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr14:68144200-68160000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:68144200-68160000	Strong transcription	Primary T cells from cord blood	blood
49	chr14:68144200-68160200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:68144200-68160400	Strong transcription	Fetal Muscle Leg	muscle

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