Variant report

Variant	rs1111014
Chromosome Location	chr6:24497766-24497767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:24497442-24497839	K562	blood:	n/a	n/a
2	NFYB	chr6:24497292-24497888	K562	blood:	n/a	n/a
3	SP1	chr6:24497424-24497839	GM12878	blood:	n/a	n/a
4	MAFK	chr6:24497680-24497827	HepG2	liver:	n/a	chr6:24497733-24497748
5	YY1	chr6:24497749-24498013	GM12891	blood:	n/a	n/a
6	NFYA	chr6:24497733-24497933	K562	blood:	n/a	n/a
7	SP1	chr6:24497404-24497867	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24473016..24474847-chr6:24495882..24498664,2	K562	blood:
2	chr6:24494491..24496664-chr6:24497344..24498908,3	K562	blood:
3	chr6:24488265..24492557-chr6:24493494..24498787,7	K562	blood:
4	chr6:24401784..24404907-chr6:24494976..24497958,4	MCF-7	breast:
5	chr6:24491848..24494534-chr6:24497211..24499675,3	MCF-7	breast:
6	chr6:24495596..24498223-chr6:24565020..24567302,2	MCF-7	breast:
7	chr6:24496929..24500234-chr6:24504252..24507783,4	K562	blood:
8	chr6:24497206..24500144-chr6:24502439..24504926,2	MCF-7	breast:
9	chr6:24495638..24500234-chr6:24504925..24509115,5	K562	blood:

No data

Variant related genes	Relation type
GPLD1	TF binding region
ENSG00000124532	Chromatin interaction
ENSG00000112294	Chromatin interaction
ENSG00000112293	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10946703	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1111013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758106	0.82[EUR][1000 genomes]
rs11759284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12208521	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13218564	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1810473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34052391	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34517349	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35864956	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4712825	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62400473	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62400494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461028	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1111014	ALDH5A1	cis	Muscle Skeletal	GTEx
rs1111014	ALDH5A1	cis	lung	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24495800-24517800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:24496000-24501600	Weak transcription	A549	lung
3	chr6:24496000-24513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:24496000-24517800	Weak transcription	Spleen	Spleen
5	chr6:24496000-24534200	Weak transcription	Gastric	stomach
6	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
7	chr6:24496200-24498200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:24496200-24502200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:24496200-24502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:24496200-24503000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:24496200-24503400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:24496200-24503600	Weak transcription	Aorta	Aorta
13	chr6:24496200-24503600	Weak transcription	Ovary	ovary
14	chr6:24496200-24503600	Weak transcription	Pancreas	Pancrea
15	chr6:24496200-24503800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:24496200-24503800	Weak transcription	Fetal Brain Female	brain
17	chr6:24496200-24504000	Weak transcription	Fetal Lung	lung
18	chr6:24496200-24505000	Weak transcription	Right Ventricle	heart
19	chr6:24496200-24506200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:24496200-24526400	Weak transcription	Right Atrium	heart
21	chr6:24496200-24527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
25	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
26	chr6:24496400-24497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:24496400-24503400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:24496400-24503400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:24496400-24503600	Weak transcription	Fetal Kidney	kidney
30	chr6:24496400-24503800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:24496400-24517200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:24496600-24498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:24496600-24498600	Strong transcription	Fetal Thymus	thymus
35	chr6:24496600-24502400	Weak transcription	Fetal Intestine Large	intestine
36	chr6:24496600-24502800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:24496600-24503200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:24496600-24503600	Weak transcription	Brain Anterior Caudate	brain
39	chr6:24496600-24503600	Weak transcription	Left Ventricle	heart
40	chr6:24496600-24504000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:24496600-24505000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:24496600-24507000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:24496600-24507400	Weak transcription	Fetal Brain Male	brain
44	chr6:24496600-24512400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:24496800-24498000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:24496800-24498200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:24496800-24498600	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:24496800-24499000	Strong transcription	Primary T cells from cord blood	blood
49	chr6:24496800-24502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:24496800-24502400	Weak transcription	Rectal Mucosa Donor 31	rectum

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