Variant report

Variant	rs12124097
Chromosome Location	chr1:95525413-95525414
allele	A/G
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	CUX1	chr1:95525361-95525561	K562	blood:	n/a	chr1:95525477-95525486

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95519405..95521800-chr1:95524296..95526838,2	K562	blood:

Variant related genes	Relation type
ENSG00000230427	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11165280	0.81[ASN][1000 genomes]
rs11165283	0.98[ASN][1000 genomes]
rs11165284	0.93[ASN][1000 genomes]
rs12092678	0.81[ASN][1000 genomes]
rs12119383	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119469	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12119701	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121738	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12123807	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12126245	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12136552	0.84[AMR][1000 genomes]
rs12137333	1.00[ASN][1000 genomes]
rs12139069	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12141083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12142619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17112852	0.93[ASN][1000 genomes]
rs4847374	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847375	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847376	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58602136	1.00[ASN][1000 genomes]
rs61772635	0.81[ASN][1000 genomes]
rs61772636	0.81[ASN][1000 genomes]
rs61772641	1.00[ASN][1000 genomes]
rs7527765	1.00[ASN][1000 genomes]
rs7532763	1.00[ASN][1000 genomes]
rs7551281	0.82[EUR][1000 genomes]
rs9787257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9787343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3452387	chr1:95522156-95526033	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3452388	chr1:95522176-95526015	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv5799	chr1:95522180-95526167	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv498675	chr1:95522259-95525940	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3452389	chr1:95522260-95525940	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv823587	chr1:95523021-95525907	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv513994	chr1:95523220-95525940	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv823598	chr1:95523233-95525907	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
4	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
5	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95509000-95528000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:95509200-95525600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:95509400-95527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95509400-95532800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:95509400-95534200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:95509600-95526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:95514200-95527400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:95514400-95527800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:95514600-95530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:95515600-95535800	Weak transcription	Fetal Lung	lung
16	chr1:95516000-95526600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:95516000-95537200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:95516200-95532600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:95517000-95528000	Weak transcription	Liver	Liver
20	chr1:95517400-95537800	Weak transcription	Esophagus	oesophagus
21	chr1:95518000-95537000	Weak transcription	Psoas Muscle	Psoas
22	chr1:95518000-95537200	Weak transcription	HSMM	muscle
23	chr1:95518400-95529400	Weak transcription	Ovary	ovary
24	chr1:95521600-95537400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:95523200-95527600	Weak transcription	Fetal Brain Female	brain
26	chr1:95523200-95537600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:95523400-95532600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:95523400-95537800	Weak transcription	Left Ventricle	heart
29	chr1:95523600-95528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:95523600-95530200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:95523600-95531200	Weak transcription	Lung	lung
32	chr1:95523600-95534400	Weak transcription	Small Intestine	intestine
33	chr1:95523600-95537200	Weak transcription	NHLF	lung
34	chr1:95523800-95526600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:95523800-95537200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:95523800-95537200	Weak transcription	HSMMtube	muscle
37	chr1:95523800-95537800	Weak transcription	Fetal Thymus	thymus
38	chr1:95524000-95525800	Weak transcription	Fetal Stomach	stomach
39	chr1:95524000-95528400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:95524000-95529400	Weak transcription	Dnd41	blood
41	chr1:95524000-95537200	Weak transcription	NH-A	brain
42	chr1:95524400-95528000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:95524400-95528000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:95524400-95528800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:95524400-95529000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:95524400-95534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:95524400-95537200	Weak transcription	Osteobl	bone
48	chr1:95524600-95529600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:95524600-95532800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:95524600-95537400	Weak transcription	Primary T cells fromperipheralblood	blood

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