Variant report

Variant	rs16919127
Chromosome Location	chr12:32136918-32136919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:32136781-32137586	GM12892	blood:	n/a	n/a
2	KAP1	chr12:32136083-32137266	K562	blood:	n/a	n/a
3	POLR2A	chr12:32136193-32136944	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:32133625-32140479	K562	blood:	n/a	n/a
5	SETDB1	chr12:32135645-32138895	U2OS	brain:	n/a	n/a
6	POLR2A	chr12:32136837-32137551	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:32136822-32137183	K562	blood:	n/a	n/a
8	POLR2A	chr12:32136896-32137614	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:32135418-32137885	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:32135148-32137638	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:32136749-32137529	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:32136863-32137010	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:32136852-32137160	GM12891	blood:	n/a	n/a
14	GTF2F1	chr12:32135274-32138655	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:32136789-32137494	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr12:32133922-32140576	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:32136673-32137511	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32116375..32119064-chr12:32135432..32138483,3	K562	blood:
2	chr12:32124105..32125918-chr12:32136146..32138764,2	K562	blood:
3	chr12:32128686..32132282-chr12:32135604..32138079,3	K562	blood:
4	chr12:32111815..32113989-chr12:32136133..32138692,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIAA1551	TF binding region
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10771896	0.80[YRI][hapmap]
rs12322685	1.00[MEX][hapmap]
rs2683499	1.00[MEX][hapmap]
rs3213957	0.80[YRI][hapmap]
rs56682866	1.00[AMR][1000 genomes]
rs73298610	0.81[AFR][1000 genomes]
rs73298612	0.81[AFR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr12:32121200-32139000	ZNF genes & repeats	Fetal Brain Female	brain
7	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr12:32122600-32137800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr12:32122600-32138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:32122600-32139000	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr12:32123200-32137800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:32123200-32138800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:32123200-32139600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr12:32124600-32140000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr12:32128400-32138600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr12:32128400-32138800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr12:32128800-32138200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
21	chr12:32128800-32138400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr12:32128800-32139800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
24	chr12:32129400-32139000	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr12:32129800-32137600	ZNF genes & repeats	Thymus	Thymus
26	chr12:32130200-32137600	ZNF genes & repeats	Fetal Lung	lung
27	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:32131600-32139800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:32132000-32137200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr12:32132000-32137600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr12:32132000-32139000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:32132000-32139200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32132000-32139800	ZNF genes & repeats	K562	blood
34	chr12:32132200-32137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:32132200-32137200	Strong transcription	HUVEC	blood vessel
36	chr12:32132200-32137400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:32132200-32137800	ZNF genes & repeats	A549	lung
38	chr12:32132200-32138400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
39	chr12:32132200-32139200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr12:32132200-32139400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr12:32132200-32139800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr12:32132400-32137800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr12:32132400-32137800	ZNF genes & repeats	Fetal Brain Male	brain
44	chr12:32132400-32138800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:32133600-32137400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:32133600-32142000	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr12:32133800-32138000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr12:32133800-32138400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr12:32133800-32138400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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