Variant report

Variant	rs74085194
Chromosome Location	chr12:31872873-31872874
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	chr12:31872701-31875740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31867098..31869695-chr12:31872689..31874325,2	MCF-7	breast:

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11830639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833397	1.00[AMR][1000 genomes]
rs11833865	1.00[AMR][1000 genomes]
rs11834122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835928	1.00[AMR][1000 genomes]
rs35548973	1.00[AMR][1000 genomes]
rs55698487	1.00[AMR][1000 genomes]
rs55702366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55704003	1.00[AMR][1000 genomes]
rs55717538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55749071	1.00[AMR][1000 genomes]
rs56010814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122817	1.00[AMR][1000 genomes]
rs56131645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56348448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56410922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58644649	1.00[AMR][1000 genomes]
rs58672841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59530163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59834841	1.00[AMR][1000 genomes]
rs59956729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60374609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60557264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60663805	1.00[AMR][1000 genomes]
rs60680259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60942371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60971872	1.00[AMR][1000 genomes]
rs61373187	1.00[AMR][1000 genomes]
rs61398234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61593882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085127	1.00[AMR][1000 genomes]
rs74085129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085142	1.00[AMR][1000 genomes]
rs74085158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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 target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
2	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
4	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:31862800-31874200	Weak transcription	Left Ventricle	heart
10	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:31868600-31874200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:31868600-31875200	Weak transcription	A549	lung
13	chr12:31868800-31875200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:31868800-31876400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
17	chr12:31869000-31873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:31869200-31873800	Weak transcription	Stomach Mucosa	stomach
21	chr12:31869200-31874400	Weak transcription	HepG2	liver
22	chr12:31870000-31877600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:31870200-31874600	Weak transcription	Pancreas	Pancrea
24	chr12:31870200-31877600	ZNF genes & repeats	Fetal Brain Female	brain
25	chr12:31870200-31880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:31870400-31881200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:31871800-31873600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:31871800-31878200	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr12:31872000-31873200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:31872000-31874000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:31872000-31881200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:31872200-31873000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:31872200-31873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:31872200-31873000	Weak transcription	Brain Germinal Matrix	brain
35	chr12:31872200-31873200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:31872200-31873200	Weak transcription	Fetal Stomach	stomach
37	chr12:31872200-31873200	Weak transcription	Lung	lung
38	chr12:31872200-31873400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:31872200-31873600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:31872200-31874000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:31872200-31874000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:31872200-31874000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:31872200-31874000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:31872200-31874000	Weak transcription	Spleen	Spleen
45	chr12:31872200-31874200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:31872200-31874200	Weak transcription	Placenta	Placenta
47	chr12:31872200-31874400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:31872200-31874400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:31872200-31874400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:31872200-31874400	Weak transcription	Fetal Thymus	thymus

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