Variant report

Variant	rs537071752
Chromosome Location	chr12:10549083-10549084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10548126-10549206	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:10546789-10549289	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:10548864-10549099	ProgFib	skin:	n/a	n/a
4	POLR2A	chr12:10547045-10549197	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:10547065-10549170	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10546405-10556419	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:10548677-10549101	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:10548986-10549085	A549	lung:	n/a	n/a
9	TAF1	chr12:10548730-10549142	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:10548774-10549106	Gliobla	brain:	n/a	n/a
11	POU2F2	chr12:10548719-10549089	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:10548710-10549116	MCF-7	breast:	n/a	n/a
13	TAF1	chr12:10548770-10549134	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10547736..10550018-chr12:10555798..10557891,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRD1-1	chr12:10548778-10551105	ENSG00000245648

No data

Variant related genes	Relation type
KLRK1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
6	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
9	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking 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	13 gene(s)	inside rSNPs	diseases
12	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv430461	chr12:10539815-10554033	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv557457	chr12:10545925-10698255	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv557458	chr12:10546140-10698255	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1051292	chr12:10547900-10596720	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:10544400-10550800	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:10547800-10559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:10548000-10549200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr12:10548000-10550000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:10548200-10549200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:10548400-10549200	Active TSS	A549	lung
8	chr12:10548400-10550000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:10548400-10550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:10548400-10550600	Active TSS	Hela-S3	cervix
11	chr12:10548600-10549200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:10548600-10549200	Enhancers	GM12878-XiMat	blood
13	chr12:10548600-10550000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:10548600-10550000	Weak transcription	Fetal Thymus	thymus
15	chr12:10548600-10550200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:10548600-10550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:10548600-10550400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:10548600-10550600	Enhancers	Primary T cells from cord blood	blood
19	chr12:10548600-10550600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:10548600-10557400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:10548600-10564000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:10548800-10549200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:10548800-10549400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:10548800-10549600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:10548800-10549800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:10548800-10549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:10548800-10551200	Enhancers	Primary B cells from cord blood	blood
28	chr12:10548800-10551600	Weak transcription	NHEK	skin
29	chr12:10549000-10549400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr12:10549000-10550000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:10549000-10550000	Weak transcription	HMEC	breast
32	chr12:10549000-10553000	Weak transcription	Primary hematopoietic stem cells	blood

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