Variant report

Variant	rs62323242
Chromosome Location	chr4:99925359-99925360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99924386..99926113-chr4:99926387..99929039,2	K562	blood:
2	chr4:99923798..99925569-chr4:99990662..99993574,2	K562	blood:
3	chr4:99923178..99925511-chr4:99928281..99930397,2	MCF-7	breast:
4	chr4:99923556..99925433-chr4:99938321..99940306,2	MCF-7	breast:
5	chr4:99924726..99926596-chr4:100008568..100010574,2	K562	blood:
6	chr4:99848788..99852145-chr4:99922354..99925698,5	K562	blood:
7	chr4:99924940..99927322-chr4:99934155..99935780,2	K562	blood:

Variant related genes	Relation type
ENSG00000238449	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000246090	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10002449	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10084896	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28659806	0.96[EUR][1000 genomes]
rs28720156	1.00[AMR][1000 genomes]
rs28730581	0.81[EUR][1000 genomes]
rs28730584	0.81[EUR][1000 genomes]
rs28730596	0.81[EUR][1000 genomes]
rs28730601	0.83[AMR][1000 genomes]
rs28730611	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730617	0.81[EUR][1000 genomes]
rs28730625	0.81[EUR][1000 genomes]
rs28730641	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730643	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730644	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730645	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730646	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730649	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28894370	0.81[EUR][1000 genomes]
rs28894371	1.00[AMR][1000 genomes]
rs29001228	1.00[AMR][1000 genomes]
rs29001338	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001342	1.00[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323231	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323233	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323244	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323245	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62323246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323253	1.00[EUR][1000 genomes]
rs62323254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323259	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325182	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[EUR][1000 genomes]
rs62325190	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325193	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325200	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325203	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325205	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325206	1.00[EUR][1000 genomes]
rs62325208	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325211	1.00[EUR][1000 genomes]
rs62325212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325239	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325240	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325241	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325242	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325245	1.00[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	0.83[AMR][1000 genomes];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]
rs7699232	0.83[AMR][1000 genomes]
rs9995869	1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62323242	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99918000-99925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:99918000-99928200	Weak transcription	Esophagus	oesophagus
3	chr4:99918200-99925400	Weak transcription	Aorta	Aorta
4	chr4:99918200-99927400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:99918200-99928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:99918200-99928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99918200-99930200	Weak transcription	Fetal Brain Male	brain
8	chr4:99918200-99930200	Weak transcription	HSMM	muscle
9	chr4:99918200-99931000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:99918200-99931400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:99918200-99935400	Weak transcription	Ovary	ovary
12	chr4:99918200-99935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:99918200-99938000	Weak transcription	NHDF-Ad	bronchial
14	chr4:99918600-99930200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:99918600-99930400	Weak transcription	Primary B cells from cord blood	blood
16	chr4:99918600-99937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:99918600-99938600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:99918800-99926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:99918800-99932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:99918800-99937800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:99919000-99930200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:99919000-99930200	Weak transcription	Primary T cells from cord blood	blood
23	chr4:99919200-99929600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:99919200-99930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:99919200-99940000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:99919200-99942000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:99919400-99931000	Weak transcription	Fetal Thymus	thymus
28	chr4:99919600-99930200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:99920000-99937800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:99920400-99929600	Weak transcription	GM12878-XiMat	blood
31	chr4:99921600-99927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:99921800-99925400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:99922200-99926800	Weak transcription	Dnd41	blood
34	chr4:99922200-99929000	Weak transcription	Small Intestine	intestine
35	chr4:99923600-99925600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:99923600-99929600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:99924000-99925400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:99924000-99928200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:99924000-99928400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:99924000-99931200	Weak transcription	Fetal Intestine Small	intestine
41	chr4:99924000-99931600	Weak transcription	K562	blood
42	chr4:99924200-99941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:99924200-99943600	Weak transcription	Gastric	stomach
44	chr4:99924400-99925400	Enhancers	NHEK	skin
45	chr4:99924400-99925600	Enhancers	HMEC	breast
46	chr4:99924400-99926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:99924400-99928400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:99924400-99928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:99924400-99928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:99924400-99928600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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