Variant report

Variant	rs7135242
Chromosome Location	chr12:31871871-31871872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

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	JUND	chr12:31871801-31871895	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBL1XR1	chr12:31871685-31872032	K562	blood:	n/a	n/a
5	SP1	chr12:31871655-31871993	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF384	chr12:31871802-31871972	K562	blood:	n/a	n/a
7	FOXA2	chr12:31871554-31872071	A549	lung:	n/a	n/a
8	ZNF143	chr12:31871774-31871939	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:31871567-31872035	K562	blood:	n/a	n/a
10	POLR2A	chr12:31871573-31872122	K562	blood:	n/a	n/a
11	ZBTB7A	chr12:31871804-31872156	K562	blood:	n/a	n/a
12	CHD2	chr12:31871748-31871951	K562	blood:	n/a	n/a
13	TEAD4	chr12:31871549-31872155	K562	blood:	n/a	n/a
14	FOXP2	chr12:31871706-31871924	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr12:31871572-31872072	K562	blood:	n/a	n/a
16	GTF2F1	chr12:31871843-31871977	K562	blood:	n/a	n/a
17	MAX	chr12:31871656-31872079	K562	blood:	n/a	n/a
18	RAD21	chr12:31871628-31872102	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr12:31871642-31872008	K562	blood:	n/a	n/a
20	YY1	chr12:31871787-31871898	K562	blood:	n/a	n/a
21	EGR1	chr12:31871636-31871996	K562	blood:	n/a	n/a
22	TAF1	chr12:31871644-31872047	K562	blood:	n/a	n/a
23	BHLHE40	chr12:31871826-31871970	K562	blood:	n/a	n/a
24	JUND	chr12:31871665-31872027	K562	blood:	n/a	n/a
25	POLR2A	chr12:31871631-31872110	K562	blood:	n/a	n/a
26	POLR2A	chr12:31871581-31872271	K562	blood:	n/a	n/a
27	UBTF	chr12:31871756-31872073	K562	blood:	n/a	n/a
28	FOXA2	chr12:31871611-31872101	A549	lung:	n/a	n/a
29	FOXA1	chr12:31871628-31871965	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:31871565-31872179	K562	blood:	n/a	n/a
31	REST	chr12:31871725-31871991	K562	blood:	n/a	n/a
32	IRF1	chr12:31871825-31872024	K562	blood:	n/a	n/a
33	CHD2	chr12:31871833-31872029	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:31871566-31872084	K562	blood:	n/a	n/a
35	CBX3	chr12:31871573-31872114	K562	blood:	n/a	n/a
36	YY1	chr12:31871733-31871973	H1-hESC	embryonic stem cell:	n/a	n/a
37	HCFC1	chr12:31871734-31872082	K562	blood:	n/a	n/a
38	EP300	chr12:31871661-31871962	K562	blood:	n/a	n/a
39	ELF1	chr12:31871750-31871952	K562	blood:	n/a	n/a
40	TBP	chr12:31871677-31872052	K562	blood:	n/a	n/a
41	MAZ	chr12:31871664-31872040	K562	blood:	n/a	n/a
42	MAFK	chr12:31871844-31872256	K562	blood:	n/a	n/a
43	ELF1	chr12:31871655-31872010	K562	blood:	n/a	n/a
44	MAX	chr12:31871696-31871898	K562	blood:	n/a	n/a
45	ATF1	chr12:31871666-31871919	K562	blood:	n/a	n/a
46	YY1	chr12:31871617-31872099	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr12:31871579-31871989	K562	blood:	n/a	n/a
48	CUX1	chr12:31871757-31871881	K562	blood:	n/a	n/a
49	HEY1	chr12:31871574-31872102	K562	blood:	n/a	n/a
50	HEY1	chr12:31871577-31872108	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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28690783	1.00[AMR][1000 genomes]
rs7134441	1.00[AMR][1000 genomes]
rs7315065	1.00[AMR][1000 genomes]
rs73301834	1.00[AMR][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:92 , 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	chr12:31860400-31872400	Weak transcription	Fetal Kidney	kidney
7	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:31862800-31874200	Weak transcription	Left Ventricle	heart
11	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:31868600-31874200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:31868600-31875200	Weak transcription	A549	lung
14	chr12:31868800-31875200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:31868800-31876400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:31869000-31873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:31869200-31873800	Weak transcription	Stomach Mucosa	stomach
22	chr12:31869200-31874400	Weak transcription	HepG2	liver
23	chr12:31870000-31877600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:31870200-31872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:31870200-31874600	Weak transcription	Pancreas	Pancrea
26	chr12:31870200-31877600	ZNF genes & repeats	Fetal Brain Female	brain
27	chr12:31870200-31880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:31870400-31881200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:31870600-31872400	Strong transcription	Primary B cells from cord blood	blood
30	chr12:31871000-31872200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr12:31871000-31872200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:31871200-31872000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr12:31871200-31872600	Strong transcription	Fetal Lung	lung
34	chr12:31871400-31872200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr12:31871400-31872200	ZNF genes & repeats	Fetal Thymus	thymus
36	chr12:31871600-31872200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr12:31871600-31872200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr12:31871600-31872200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:31871600-31872200	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr12:31871600-31872200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr12:31871600-31872200	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr12:31871600-31872200	ZNF genes & repeats	Fetal Stomach	stomach
43	chr12:31871800-31872000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:31871800-31872000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:31871800-31872000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:31871800-31872000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr12:31871800-31872000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:31871800-31872000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:31871800-31872000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:31871800-31872200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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