Variant report

Variant	rs11615434
Chromosome Location	chr12:9235045-9235046
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	POLR2A	chr12:9234158-9235163	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:9234075-9235175	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:9233957-9235298	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:9234067-9235177	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:9233968-9235335	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:9233981-9235442	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
A2M	TF binding region

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1012588	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10492115	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611433	0.88[ASN][1000 genomes]
rs11613746	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615091	0.88[ASN][1000 genomes]
rs11615143	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16917971	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863838	0.81[ASN][1000 genomes]
rs226406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226407	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741850	0.81[ASN][1000 genomes]
rs3741852	0.81[ASN][1000 genomes]
rs4882976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882978	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882979	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883213	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56256934	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56345025	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487609	0.96[ASN][1000 genomes]
rs6487636	0.81[ASN][1000 genomes]
rs7298673	0.81[ASN][1000 genomes]
rs7302725	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73048097	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73050004	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73050007	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73050013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73051904	0.96[ASN][1000 genomes]
rs74061406	0.88[ASN][1000 genomes]
rs7955497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965529	0.81[ASN][1000 genomes]
rs7967997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970135	0.81[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9236200	Weak transcription	Psoas Muscle	Psoas
2	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
3	chr12:9218400-9236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:9218400-9236600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:9218400-9237200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:9218600-9235600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:9218600-9235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:9218600-9236400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:9218800-9236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:9218800-9236200	Weak transcription	Fetal Heart	heart
11	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
12	chr12:9219800-9235800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:9225600-9236200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:9230800-9240400	Weak transcription	Placenta	Placenta
15	chr12:9230800-9243600	Weak transcription	Colonic Mucosa	Colon
16	chr12:9232000-9236000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:9232400-9236200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:9232400-9242600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:9232600-9236400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:9233200-9236400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:9234000-9235400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:9234000-9235400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:9234000-9237400	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:9234200-9235200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr12:9234200-9235200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:9234200-9235200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:9234200-9235200	Strong transcription	Fetal Lung	lung
30	chr12:9234200-9235200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:9234200-9235200	Strong transcription	Ovary	ovary
32	chr12:9234200-9235200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr12:9234200-9235200	Genic enhancers	HepG2	liver
34	chr12:9234400-9235200	Genic enhancers	Left Ventricle	heart
35	chr12:9234400-9236800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:9234400-9237800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:9234600-9235200	Genic enhancers	Right Ventricle	heart
38	chr12:9234600-9239400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr12:9234800-9235200	Genic enhancers	Aorta	Aorta
40	chr12:9234800-9235200	ZNF genes & repeats	Fetal Stomach	stomach
41	chr12:9234800-9235200	ZNF genes & repeats	Lung	lung
42	chr12:9234800-9235400	Genic enhancers	Adipose Nuclei	Adipose
43	chr12:9234800-9236200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:9235000-9235200	Genic enhancers	Liver	Liver
45	chr12:9235000-9235200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr12:9235000-9235200	ZNF genes & repeats	Spleen	Spleen
47	chr12:9235000-9242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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