Variant report

Variant	rs72723126
Chromosome Location	chr14:68140304-68140305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
2	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
3	chr14:68139549..68141968-chr9:127622752..127624278,2	MCF-7	breast:
4	chr14:68139241..68141305-chr14:68207965..68210798,2	MCF-7	breast:
5	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
6	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
7	chr1:149856880..149859057-chr14:68139799..68142421,2	MCF-7	breast:
8	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
9	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
10	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:
11	chr14:68066735..68068667-chr14:68139489..68141253,2	MCF-7	breast:
12	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000136942	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000241542	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10459532	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1059238	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1120877	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11620761	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11622441	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11623700	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623711	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11623785	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11623961	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11624498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11624868	0.88[EUR][1000 genomes]
rs11625839	0.93[EUR][1000 genomes]
rs11627201	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11628860	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12050393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1555193	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17104490	0.88[EUR][1000 genomes]
rs17104526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104544	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17104550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104597	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17104621	0.88[AMR][1000 genomes]
rs17249472	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17852293	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1955472	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1955473	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2234511	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2320029	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28390085	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28532066	0.84[EUR][1000 genomes]
rs28873201	0.88[EUR][1000 genomes]
rs3742880	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3742881	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899221	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4899222	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902506	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902508	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902511	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902512	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55900323	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56244142	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256221	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60581344	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573794	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6573795	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7140310	0.98[EUR][1000 genomes]
rs7142897	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144076	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7144124	0.84[EUR][1000 genomes]
rs7144186	0.86[EUR][1000 genomes]
rs7151205	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7151230	0.85[EUR][1000 genomes]
rs7152326	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7155788	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7159889	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72721082	0.88[EUR][1000 genomes]
rs72721090	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723137	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723150	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72723152	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723154	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723155	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723156	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723158	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723160	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723163	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723166	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723167	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs742865	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs761514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009250	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8013767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8017147	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8017326	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8019831	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8020591	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72723126	RDH11	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68126800-68140400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:68136000-68140400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:68137600-68140400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:68137800-68140400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:68138400-68140400	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:68138400-68140400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:68138600-68140400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:68139000-68140400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:68139000-68140400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:68139200-68140400	Enhancers	Colon Smooth Muscle	Colon
14	chr14:68139200-68140400	Enhancers	Thymus	Thymus
15	chr14:68139400-68140400	Enhancers	Primary B cells from cord blood	blood
16	chr14:68139400-68140400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:68139400-68140400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:68139400-68140400	Enhancers	Brain Angular Gyrus	brain
19	chr14:68139400-68140400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:68139400-68140400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:68139400-68140400	Enhancers	Pancreas	Pancrea
22	chr14:68139400-68140400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:68139400-68140400	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr14:68139400-68140400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr14:68139400-68140400	Enhancers	Small Intestine	intestine
26	chr14:68139400-68140800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:68139400-68140800	Flanking Active TSS	Dnd41	blood
28	chr14:68139400-68140800	Flanking Active TSS	Osteobl	bone
29	chr14:68139400-68141000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:68139400-68141000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr14:68139600-68140400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:68139600-68140400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:68139600-68140400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:68139600-68140400	Enhancers	Brain Substantia Nigra	brain
35	chr14:68139600-68140400	Enhancers	Colonic Mucosa	Colon
36	chr14:68139600-68140400	Enhancers	Fetal Thymus	thymus
37	chr14:68139600-68140600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:68139600-68140800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:68139600-68140800	Flanking Active TSS	NHEK	skin
40	chr14:68139600-68142000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:68139600-68142400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:68139600-68142400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:68139600-68142400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:68139800-68140400	Weak transcription	Aorta	Aorta
47	chr14:68139800-68140400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr14:68139800-68140400	Active TSS	Brain Hippocampus Middle	brain
49	chr14:68139800-68140400	Weak transcription	Esophagus	oesophagus
50	chr14:68139800-68140400	Enhancers	Placenta	Placenta

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