Variant report

Variant	rs4768144
Chromosome Location	chr12:47609058-47609059
allele	C/T
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	NR2F2	chr12:47608682-47609835	K562	blood:	n/a	n/a
2	GATA1	chr12:47608735-47609735	PBDE	blood:	n/a	chr12:47609419-47609436 chr12:47609418-47609425 chr12:47609415-47609425 chr12:47608906-47608916 chr12:47609418-47609425 chr12:47609418-47609425
3	RCOR1	chr12:47608665-47609750	K562	blood:	n/a	n/a
4	ZNF384	chr12:47608693-47609575	K562	blood:	n/a	n/a
5	RPC155	chr12:47608796-47610137	K562	blood:	n/a	n/a
6	GATA1	chr12:47608630-47609759	K562	blood:	n/a	chr12:47609419-47609436 chr12:47609418-47609425 chr12:47609415-47609425 chr12:47608906-47608916 chr12:47609418-47609425 chr12:47609418-47609425
7	ATF3	chr12:47608789-47609914	K562	blood:	n/a	n/a
8	EP300	chr12:47608994-47609682	K562	blood:	n/a	chr12:47609522-47609536
9	POLR2A	chr12:47608785-47610975	PBDE	blood:	n/a	n/a
10	GATA2	chr12:47608997-47609651	K562	blood:	n/a	chr12:47609419-47609436 chr12:47609418-47609425 chr12:47609415-47609425 chr12:47609418-47609425 chr12:47609418-47609425
11	TBL1XR1	chr12:47608905-47609718	K562	blood:	n/a	n/a
12	GTF3C2	chr12:47608275-47609899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47603840..47605770-chr12:47607322..47609128,2	K562	blood:
2	chr12:47602204..47603894-chr12:47609005..47611921,2	K562	blood:

Variant related genes	Relation type
PCED1B	TF binding region
PCED1B-AS1	TF binding region
ENSG00000247774	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10881077	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881079	0.88[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183795	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11183796	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11183799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12370622	0.96[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1554693	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17821774	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17822189	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2004683	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2004684	0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111903	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408718	0.96[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768782	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55711758	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55849521	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73110240	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs732523	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7974410	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600000-47614600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:47600800-47614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:47601400-47610000	Weak transcription	HSMM	muscle
6	chr12:47601400-47610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:47601400-47612000	Weak transcription	Gastric	stomach
8	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:47601600-47610400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
12	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
13	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:47603000-47609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:47603200-47611800	Weak transcription	Spleen	Spleen
17	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:47604800-47612000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:47605200-47613000	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr12:47605200-47613000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:47605200-47613600	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr12:47606200-47613400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:47606400-47610000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:47606600-47611800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:47606800-47610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:47606800-47610200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr12:47606800-47611800	Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:47606800-47612600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:47606800-47614000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr12:47606800-47614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:47606800-47616600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:47607000-47610000	Weak transcription	HMEC	breast
35	chr12:47607000-47610200	Weak transcription	NHEK	skin
36	chr12:47607000-47610400	Active TSS	Primary T cells from cord blood	blood
37	chr12:47607000-47611600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:47607200-47609800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr12:47607400-47609200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:47607400-47611800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr12:47608000-47609200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:47608200-47609400	Enhancers	Fetal Thymus	thymus
43	chr12:47608200-47609600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:47608200-47609600	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:47608200-47609800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr12:47608200-47610000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:47608400-47610400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:47608400-47616800	Weak transcription	Fetal Lung	lung
49	chr12:47608600-47609400	Enhancers	Thymus	Thymus
50	chr12:47608600-47609400	Enhancers	Dnd41	blood

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