Variant report

Variant	rs11622441
Chromosome Location	chr14:68115459-68115460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68085426..68087639-chr14:68113722..68116583,2	K562	blood:
2	chr14:68102112..68105104-chr14:68115008..68116539,2	MCF-7	breast:
3	chr14:68102169..68104966-chr14:68114666..68116181,2	K562	blood:

Variant related genes	Relation type
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10459532	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1059238	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1120877	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11620761	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11623700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11623711	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11623785	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623961	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624498	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624868	0.86[EUR][1000 genomes]
rs11625839	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627201	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628860	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050393	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555193	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17104490	0.86[EUR][1000 genomes]
rs17104526	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104597	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17104621	0.84[AMR][1000 genomes]
rs17249472	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17852293	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1955472	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955473	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2234511	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2320029	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28390085	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28532066	0.83[EUR][1000 genomes]
rs28873201	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3742880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742881	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899221	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4899222	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902506	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902508	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902511	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902512	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55900323	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56244142	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56256221	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60581344	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573794	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573795	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7140310	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142897	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144076	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7144124	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7144186	0.88[EUR][1000 genomes]
rs7151205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151230	0.84[EUR][1000 genomes]
rs7152326	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7155788	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7159889	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72721082	0.86[EUR][1000 genomes]
rs72721090	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72723115	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72723122	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723126	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723137	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72723144	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723150	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723152	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723154	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723155	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723156	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723158	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723160	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723163	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723166	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723167	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs742865	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761513	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009250	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8013767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017147	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8017326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019831	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020591	0.88[AMR][1000 genomes];0.89[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11622441	RDH11	cis	Nerve Tibial	GTEx
rs11622441	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
2	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
3	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
8	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:68109400-68116800	Strong transcription	NHEK	skin
10	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
12	chr14:68110400-68115600	Weak transcription	Gastric	stomach
13	chr14:68110800-68115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:68110800-68115800	Weak transcription	Small Intestine	intestine
15	chr14:68110800-68116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:68111000-68115600	Weak transcription	Fetal Stomach	stomach
17	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:68111200-68115600	Weak transcription	Colonic Mucosa	Colon
20	chr14:68111400-68119000	Strong transcription	K562	blood
21	chr14:68111600-68115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:68111600-68116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:68111800-68117000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:68111800-68126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:68112000-68117000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:68112000-68124200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr14:68112000-68124400	Strong transcription	Brain Germinal Matrix	brain
28	chr14:68112000-68129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:68112000-68129800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:68112200-68116800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:68112200-68116800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:68112200-68116800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:68112200-68117400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:68112200-68120400	Strong transcription	Adipose Nuclei	Adipose
35	chr14:68112200-68121200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:68112200-68125000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr14:68112200-68126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:68112200-68126800	Strong transcription	Placenta	Placenta
39	chr14:68112200-68127000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:68112200-68127000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:68112200-68127200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:68112200-68127200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr14:68112200-68128000	Strong transcription	Dnd41	blood
44	chr14:68112200-68128200	Strong transcription	Primary T cells from cord blood	blood
45	chr14:68112200-68128200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:68112200-68129200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:68112400-68121400	Strong transcription	HepG2	liver
48	chr14:68112400-68124000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:68112400-68124400	Strong transcription	HSMM	muscle
50	chr14:68112400-68126600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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