Variant report

Variant	rs59091295
Chromosome Location	chr12:31871673-31871674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:31871557-31872083	K562	blood:	n/a	n/a
2	YY1	chr12:31871610-31872146	K562	blood:	n/a	n/a
3	SP1	chr12:31871655-31871993	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA2	chr12:31871554-31872071	A549	lung:	n/a	n/a
5	MAX	chr12:31871567-31872035	K562	blood:	n/a	n/a
6	POLR2A	chr12:31871573-31872122	K562	blood:	n/a	n/a
7	TEAD4	chr12:31871549-31872155	K562	blood:	n/a	n/a
8	POLR2A	chr12:31871572-31872072	K562	blood:	n/a	n/a
9	MAX	chr12:31871656-31872079	K562	blood:	n/a	n/a
10	RAD21	chr12:31871628-31872102	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr12:31871642-31872008	K562	blood:	n/a	n/a
12	EGR1	chr12:31871636-31871996	K562	blood:	n/a	n/a
13	TAF1	chr12:31871644-31872047	K562	blood:	n/a	n/a
14	JUND	chr12:31871665-31872027	K562	blood:	n/a	n/a
15	POLR2A	chr12:31871631-31872110	K562	blood:	n/a	n/a
16	POLR2A	chr12:31871581-31872271	K562	blood:	n/a	n/a
17	FOXA2	chr12:31871611-31872101	A549	lung:	n/a	n/a
18	FOXA1	chr12:31871628-31871965	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:31871565-31872179	K562	blood:	n/a	n/a
20	POLR2A	chr12:31871566-31872084	K562	blood:	n/a	n/a
21	CBX3	chr12:31871573-31872114	K562	blood:	n/a	n/a
22	EP300	chr12:31871661-31871962	K562	blood:	n/a	n/a
23	MAZ	chr12:31871664-31872040	K562	blood:	n/a	n/a
24	ELF1	chr12:31871655-31872010	K562	blood:	n/a	n/a
25	ATF1	chr12:31871666-31871919	K562	blood:	n/a	n/a
26	YY1	chr12:31871617-31872099	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr12:31871579-31871989	K562	blood:	n/a	n/a
28	HEY1	chr12:31871574-31872102	K562	blood:	n/a	n/a
29	HEY1	chr12:31871577-31872108	K562	blood:	n/a	n/a
30	YY1	chr12:31871576-31872090	K562	blood:	n/a	n/a
31	RCOR1	chr12:31871664-31872105	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31839479..31841877-chr12:31870440..31872048,2	MCF-7	breast:

No data

Variant related genes	Relation type
AMN1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10843992	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051514	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051515	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051516	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051519	0.88[ASN][1000 genomes]
rs11051527	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051534	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051535	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051546	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11051547	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12231666	0.98[ASN][1000 genomes]
rs4931536	0.88[ASN][1000 genomes]
rs4931538	0.88[ASN][1000 genomes]
rs4931545	0.89[ASN][1000 genomes]
rs4931546	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4931547	0.90[ASN][1000 genomes]
rs61561194	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61932065	0.98[ASN][1000 genomes]
rs7308889	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7316528	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7955365	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7959989	0.82[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	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
2	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:31839800-31871800	Weak transcription	Gastric	stomach
5	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:31846400-31871800	Weak transcription	Lung	lung
7	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
8	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:31859000-31871800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:31860400-31872400	Weak transcription	Fetal Kidney	kidney
12	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:31860800-31871800	Weak transcription	Ovary	ovary
14	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:31861000-31871800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:31862400-31871800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:31862600-31871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:31862800-31871800	Weak transcription	Aorta	Aorta
20	chr12:31862800-31874200	Weak transcription	Left Ventricle	heart
21	chr12:31864000-31871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:31865400-31871800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:31867600-31871800	Weak transcription	Spleen	Spleen
24	chr12:31868200-31871800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:31868600-31871800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:31868600-31871800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:31868600-31874200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:31868600-31875200	Weak transcription	A549	lung
30	chr12:31868800-31871800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:31868800-31871800	Weak transcription	Placenta	Placenta
32	chr12:31868800-31871800	Weak transcription	Thymus	Thymus
33	chr12:31868800-31875200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:31868800-31876400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
37	chr12:31869000-31871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:31869000-31873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:31869200-31873800	Weak transcription	Stomach Mucosa	stomach
42	chr12:31869200-31874400	Weak transcription	HepG2	liver
43	chr12:31869400-31871800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:31870000-31871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:31870000-31877600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:31870200-31871800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:31870200-31871800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:31870200-31871800	Weak transcription	Esophagus	oesophagus
49	chr12:31870200-31872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:31870200-31874600	Weak transcription	Pancreas	Pancrea

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