Variant report

Variant	rs62323238
Chromosome Location	chr4:99918849-99918850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
2	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
3	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
4	chr4:99915508..99918687-chr4:99918792..99923436,6	MCF-7	breast:
5	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
6	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

Variant related genes	Relation type
ENSG00000164032	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 111 )
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]
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]
rs62325193	1.00[AFR][1000 genomes];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: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
rs62323238	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99915800-99919200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:99916000-99919200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:99918000-99919000	Flanking Active TSS	NHEK	skin
4	chr4:99918000-99919200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:99918000-99919200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:99918000-99919200	Weak transcription	Placenta	Placenta
7	chr4:99918000-99919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:99918000-99919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:99918000-99920400	Enhancers	Small Intestine	intestine
10	chr4:99918000-99923600	Weak transcription	Gastric	stomach
11	chr4:99918000-99925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:99918000-99928200	Weak transcription	Esophagus	oesophagus
13	chr4:99918200-99919000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:99918200-99919000	Enhancers	Primary T cells from cord blood	blood
15	chr4:99918200-99919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:99918200-99919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:99918200-99919200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:99918200-99919200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:99918200-99919200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:99918200-99919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:99918200-99919200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:99918200-99919200	Weak transcription	Left Ventricle	heart
23	chr4:99918200-99919200	Weak transcription	Pancreas	Pancrea
24	chr4:99918200-99919200	Enhancers	Hela-S3	cervix
25	chr4:99918200-99919400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:99918200-99919400	Enhancers	Fetal Lung	lung
27	chr4:99918200-99919600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:99918200-99919600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:99918200-99920200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr4:99918200-99920400	Enhancers	Fetal Intestine Small	intestine
31	chr4:99918200-99922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:99918200-99922000	Weak transcription	Osteobl	bone
33	chr4:99918200-99923600	Weak transcription	Psoas Muscle	Psoas
34	chr4:99918200-99925000	Weak transcription	Right Atrium	heart
35	chr4:99918200-99925400	Weak transcription	Aorta	Aorta
36	chr4:99918200-99927400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:99918200-99928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:99918200-99928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:99918200-99930200	Weak transcription	Fetal Brain Male	brain
40	chr4:99918200-99930200	Weak transcription	HSMM	muscle
41	chr4:99918200-99931000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:99918200-99931400	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:99918200-99935400	Weak transcription	Ovary	ovary
44	chr4:99918200-99935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:99918200-99938000	Weak transcription	NHDF-Ad	bronchial
46	chr4:99918400-99919000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:99918400-99919000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:99918400-99919000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr4:99918400-99919200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:99918400-99919200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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