Variant report

Variant	rs28360463
Chromosome Location	chr12:121647324-121647325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:121647198-121648795	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:121647014-121648829	K562	blood:	n/a	n/a
3	MAZ	chr12:121647218-121648591	IMR90	lung:	n/a	chr12:121648179-121648190
4	ZNF384	chr12:121646928-121648317	K562	blood:	n/a	n/a
5	JUN	chr12:121647187-121649065	K562	blood:	n/a	chr12:121647752-121647761
6	RAD21	chr12:121647294-121648459	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121646473..121649457-chr12:121658577..121662737,5	MCF-7	breast:
2	chr12:121646670..121649250-chr12:121789949..121791934,2	K562	blood:
3	chr12:120965472..120968197-chr12:121646463..121648820,2	K562	blood:
4	chr12:121609945..121611555-chr12:121644993..121647388,2	MCF-7	breast:
5	chr12:121646675..121648577-chr16:89007038..89009106,2	MCF-7	breast:
6	chr12:121547509..121549908-chr12:121645627..121647537,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX4	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000129993	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10774588	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849852	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849859	0.88[ASN][1000 genomes]
rs11065479	0.96[ASN][1000 genomes]
rs11065483	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151880	0.88[ASN][1000 genomes]
rs1169717	0.86[ASN][1000 genomes]
rs1169718	0.84[ASN][1000 genomes]
rs25644	0.88[ASN][1000 genomes]
rs2686362	0.96[ASN][1000 genomes]
rs3815989	0.88[ASN][1000 genomes]
rs4980998	0.84[ASN][1000 genomes]
rs59304889	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61216528	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121641400-121647800	Weak transcription	Gastric	stomach
2	chr12:121641800-121647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:121643000-121647600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:121643600-121648000	Weak transcription	Fetal Heart	heart
5	chr12:121646800-121647600	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:121646800-121647600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:121647000-121647400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:121647000-121647400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:121647000-121647400	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:121647000-121647400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:121647000-121647400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:121647000-121647400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr12:121647000-121647400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:121647000-121647400	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:121647000-121647400	Enhancers	Fetal Muscle Leg	muscle
16	chr12:121647000-121647400	Enhancers	Fetal Thymus	thymus
17	chr12:121647000-121647600	Enhancers	Lung	lung
18	chr12:121647000-121647600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr12:121647000-121647600	Flanking Active TSS	Dnd41	blood
20	chr12:121647000-121647600	Flanking Active TSS	K562	blood
21	chr12:121647000-121647800	Flanking Active TSS	Placenta	Placenta
22	chr12:121647000-121648400	Enhancers	Fetal Brain Male	brain
23	chr12:121647000-121648400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:121647000-121648600	Active TSS	Primary T cells from cord blood	blood
25	chr12:121647000-121648600	Active TSS	Brain Substantia Nigra	brain
26	chr12:121647200-121647400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:121647200-121647400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:121647200-121647400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:121647200-121647400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:121647200-121647400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:121647200-121647400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:121647200-121647400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:121647200-121647400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:121647200-121647400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:121647200-121647400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121647200-121647400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr12:121647200-121647400	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:121647200-121647400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr12:121647200-121647400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr12:121647200-121647400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:121647200-121647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:121647200-121647400	Enhancers	Fetal Lung	lung
43	chr12:121647200-121647400	Enhancers	Fetal Stomach	stomach
44	chr12:121647200-121647400	Enhancers	Pancreas	Pancrea
45	chr12:121647200-121647400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:121647200-121647400	Enhancers	Thymus	Thymus
47	chr12:121647200-121647400	Enhancers	Spleen	Spleen
48	chr12:121647200-121647400	Enhancers	GM12878-XiMat	blood
49	chr12:121647200-121647400	Flanking Active TSS	HepG2	liver
50	chr12:121647200-121647600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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