Variant report

Variant	rs4760322
Chromosome Location	chr12:58151296-58151297
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	chr12:58151133-58151340	HepG2	liver:	n/a	n/a
2	CTCF	chr12:58150527-58151712	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:

Variant related genes	Relation type
CDK4	TF binding region
ENSG00000135454	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12304123	1.00[EUR][1000 genomes]
rs238527	1.00[ASN][1000 genomes]
rs3211605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211618	1.00[AMR][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4447215	1.00[AMR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes]
rs4760321	1.00[EUR][1000 genomes]
rs4760323	1.00[AMR][1000 genomes]
rs4760324	1.00[AMR][1000 genomes]
rs4760328	1.00[AMR][1000 genomes]
rs4760329	1.00[AMR][1000 genomes]
rs4760336	1.00[AMR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs7307835	1.00[EUR][1000 genomes]
rs73338229	1.00[ASN][1000 genomes]
rs73338231	1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176344	1.00[AMR][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8176350	1.00[AMR][1000 genomes]
rs8176354	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58150000-58151800	Weak transcription	Aorta	Aorta
2	chr12:58150000-58151800	Weak transcription	Esophagus	oesophagus
3	chr12:58150000-58151800	Weak transcription	Ovary	ovary
4	chr12:58150000-58152000	Weak transcription	HSMMtube	muscle
5	chr12:58150200-58154400	Weak transcription	Psoas Muscle	Psoas
6	chr12:58150400-58151600	Weak transcription	Gastric	stomach
7	chr12:58150400-58151800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:58150400-58151800	Weak transcription	Left Ventricle	heart
9	chr12:58150400-58151800	Weak transcription	Right Ventricle	heart
10	chr12:58150400-58152000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:58150400-58158400	Weak transcription	Right Atrium	heart
12	chr12:58150600-58151400	Enhancers	Primary B cells from cord blood	blood
13	chr12:58150600-58151400	Weak transcription	Liver	Liver
14	chr12:58150600-58151400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:58150600-58151600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:58150600-58151600	Weak transcription	Fetal Lung	lung
17	chr12:58150600-58151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:58150600-58151800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:58150600-58151800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:58150600-58152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:58150600-58153600	Weak transcription	Fetal Kidney	kidney
22	chr12:58150600-58156400	Weak transcription	Small Intestine	intestine
23	chr12:58150600-58156400	Weak transcription	Hela-S3	cervix
24	chr12:58150600-58158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:58150800-58151600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:58150800-58151600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:58150800-58151600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:58150800-58151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:58150800-58151600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:58150800-58151600	Weak transcription	Lung	lung
31	chr12:58150800-58151600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:58150800-58151600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:58150800-58151800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:58150800-58151800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:58150800-58151800	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:58150800-58152000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:58150800-58154600	Strong transcription	Fetal Stomach	stomach
38	chr12:58150800-58156200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:58150800-58156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:58151000-58151400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:58151000-58151400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:58151000-58151400	Weak transcription	Fetal Intestine Large	intestine
43	chr12:58151000-58151400	Weak transcription	K562	blood
44	chr12:58151000-58151600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:58151000-58151600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:58151000-58151600	Weak transcription	Primary T cells from cord blood	blood
47	chr12:58151000-58151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:58151000-58151600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:58151000-58151600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:58151000-58151600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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