Variant report

Variant	rs7151205
Chromosome Location	chr14:68112783-68112784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68112159-68112857	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:68111755-68121472	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000100568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10459532	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1059238	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1120877	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11620761	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622441	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623700	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11623711	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11623785	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624498	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624868	0.86[EUR][1000 genomes]
rs11625839	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627201	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628860	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050393	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555193	0.82[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];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104544	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104597	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17249472	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17852293	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1955472	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955473	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2234511	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2320029	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28390085	0.89[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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742881	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899221	0.85[AFR][1000 genomes]
rs4899222	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4902506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902508	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902511	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902512	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55900323	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56244142	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56256221	0.93[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];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573795	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7140310	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142897	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144076	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]
rs7151230	0.84[EUR][1000 genomes]
rs7152326	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7155788	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7159889	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72721082	0.86[EUR][1000 genomes]
rs72721090	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72723115	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72723122	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723126	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723137	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72723144	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723150	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723152	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723154	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723155	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72723156	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723158	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723160	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723163	0.87[EUR][1000 genomes]
rs72723166	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723167	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs742865	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs761513	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761514	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009250	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8013767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017147	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8017326	0.82[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	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	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
rs7151205	RDH11	cis	Nerve Tibial	GTEx
rs7151205	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
10	chr14:68105800-68112800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:68106000-68113200	Weak transcription	Psoas Muscle	Psoas
12	chr14:68106000-68114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68106800-68113000	Weak transcription	NH-A	brain
14	chr14:68107600-68115400	Weak transcription	NHLF	lung
15	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:68108800-68112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:68109000-68113200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
20	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:68109400-68112800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:68109400-68116800	Strong transcription	NHEK	skin
23	chr14:68109800-68115200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
26	chr14:68110400-68115600	Weak transcription	Gastric	stomach
27	chr14:68110600-68112800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:68110600-68113000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:68110600-68113400	Enhancers	Fetal Heart	heart
30	chr14:68110800-68112800	Weak transcription	NHDF-Ad	bronchial
31	chr14:68110800-68113000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:68110800-68115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:68110800-68115800	Weak transcription	Small Intestine	intestine
34	chr14:68110800-68116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:68111000-68112800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:68111000-68112800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:68111000-68113400	Weak transcription	Fetal Thymus	thymus
38	chr14:68111000-68114800	Weak transcription	HMEC	breast
39	chr14:68111000-68115000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:68111000-68115600	Weak transcription	Fetal Stomach	stomach
41	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:68111200-68113000	Weak transcription	Brain Substantia Nigra	brain
44	chr14:68111200-68114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:68111200-68115600	Weak transcription	Colonic Mucosa	Colon
46	chr14:68111400-68114800	Weak transcription	Hela-S3	cervix
47	chr14:68111400-68115200	Weak transcription	Right Ventricle	heart
48	chr14:68111400-68119000	Strong transcription	K562	blood
49	chr14:68111600-68115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:68111600-68116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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