Variant report

Variant	rs62325193
Chromosome Location	chr4:99957773-99957774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99953749..99955598-chr4:99957117..99959892,2	K562	blood:
2	chr4:99847573..99850219-chr4:99955793..99958132,2	K562	blood:
3	chr4:99916906..99919755-chr4:99957768..99959851,3	K562	blood:

Variant related genes	Relation type
ENSG00000164024	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10002449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10084896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28659806	0.96[EUR][1000 genomes]
rs28720156	0.83[AMR][1000 genomes]
rs28730581	0.81[EUR][1000 genomes]
rs28730584	0.81[EUR][1000 genomes]
rs28730596	0.81[EUR][1000 genomes]
rs28730611	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730617	0.81[EUR][1000 genomes]
rs28730625	0.81[EUR][1000 genomes]
rs28730641	0.81[EUR][1000 genomes]
rs28730643	0.81[EUR][1000 genomes]
rs28730644	0.81[EUR][1000 genomes]
rs28730645	0.81[EUR][1000 genomes]
rs28730646	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730649	0.81[EUR][1000 genomes]
rs28894370	0.81[EUR][1000 genomes]
rs28894371	0.83[AMR][1000 genomes]
rs29001228	0.83[AMR][1000 genomes]
rs29001338	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001342	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001346	0.81[EUR][1000 genomes]
rs29001348	0.81[EUR][1000 genomes]
rs5003497	0.81[EUR][1000 genomes]
rs55831712	1.00[EUR][1000 genomes]
rs61431883	0.81[EUR][1000 genomes]
rs62323213	1.00[EUR][1000 genomes]
rs62323214	1.00[EUR][1000 genomes]
rs62323216	1.00[EUR][1000 genomes]
rs62323217	1.00[EUR][1000 genomes]
rs62323230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323235	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62323246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[EUR][1000 genomes]
rs62325190	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325206	1.00[EUR][1000 genomes]
rs62325208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325212	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325239	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325240	0.81[EUR][1000 genomes]
rs62325241	0.81[EUR][1000 genomes]
rs62325242	0.81[EUR][1000 genomes]
rs62325245	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532781	0.81[EUR][1000 genomes]
rs6532792	0.81[EUR][1000 genomes]
rs6819694	0.81[EUR][1000 genomes]
rs6819724	0.81[EUR][1000 genomes]
rs6822742	0.81[EUR][1000 genomes]
rs6823388	0.81[EUR][1000 genomes]
rs6827292	0.81[EUR][1000 genomes]
rs72897156	0.81[EUR][1000 genomes]
rs7667261	0.81[EUR][1000 genomes]
rs7679102	0.81[EUR][1000 genomes]
rs7681427	0.81[EUR][1000 genomes]
rs7687322	0.81[EUR][1000 genomes]
rs9995869	1.00[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62325193	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
4	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
5	chr4:99943000-99959200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:99943800-99966200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:99944200-99966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
11	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
12	chr4:99944400-99958400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:99944400-99958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:99944400-99958800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:99944400-99958800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:99944400-99959400	Weak transcription	HSMM	muscle
17	chr4:99944400-99965000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:99944400-99966400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
20	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
24	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
25	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
28	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
30	chr4:99946600-99964800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix
32	chr4:99947000-99964800	Weak transcription	Left Ventricle	heart
33	chr4:99947000-99969600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:99947000-99969800	Weak transcription	Ovary	ovary
35	chr4:99947000-99979000	Weak transcription	Gastric	stomach
36	chr4:99947000-99979200	Weak transcription	Pancreas	Pancrea
37	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
38	chr4:99949000-99964400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:99949000-99979000	Weak transcription	Small Intestine	intestine
40	chr4:99949200-99968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:99949600-99958800	Weak transcription	NHDF-Ad	bronchial
42	chr4:99949600-99969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:99949600-99973200	Weak transcription	Fetal Kidney	kidney
44	chr4:99950400-99959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:99950400-99959400	Weak transcription	Liver	Liver
46	chr4:99950800-99959400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:99950800-99966000	Weak transcription	Osteobl	bone
48	chr4:99951200-99958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:99951400-99959400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:99951400-99963600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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