Variant report

Variant	rs34474123
Chromosome Location	chr12:10548643-10548644
allele	-/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	STAT3	chr12:10548176-10548670	MCF10A-Er-Src	breast:	n/a	n/a
2	TFAP2A	chr12:10548134-10548726	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr12:10548121-10548681	HepG2	liver:	n/a	n/a
4	FOXA2	chr12:10548154-10548666	A549	lung:	n/a	n/a
5	ELF1	chr12:10548234-10548681	MCF-7	breast:	n/a	n/a
6	ELK4	chr12:10548120-10548659	Hela-S3	cervix:	n/a	chr12:10548498-10548509
7	POLR2A	chr12:10547837-10548688	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:10548126-10549206	PANC-1	pancreas:	n/a	n/a
9	TEAD4	chr12:10548239-10548721	MCF-7	breast:	n/a	n/a
10	SP1	chr12:10548094-10548791	A549	lung:	n/a	n/a
11	STAT3	chr12:10548053-10548674	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr12:10548289-10548666	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr12:10547995-10548941	A549	lung:	n/a	n/a
14	CHD2	chr12:10548230-10548704	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:10548264-10548690	A549	lung:	n/a	n/a
16	MAX	chr12:10548108-10548765	A549	lung:	n/a	n/a
17	POLR2A	chr12:10547891-10548663	HL-60	blood:	n/a	n/a
18	POLR2A	chr12:10546789-10549289	Hela-S3	cervix:	n/a	n/a
19	TCF7L2	chr12:10546921-10548707	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:10548105-10548691	PANC-1	pancreas:	n/a	n/a
21	MYC	chr12:10547997-10548686	MCF10A-Er-Src	breast:	n/a	n/a
22	ELF1	chr12:10548130-10548679	A549	lung:	n/a	n/a
23	POLR2A	chr12:10547045-10549197	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:10547065-10549170	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:10546405-10556419	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr12:10548220-10548666	A549	lung:	n/a	n/a
27	FOSL2	chr12:10548154-10548713	A549	lung:	n/a	n/a
28	TFAP2C	chr12:10548134-10548750	Hela-S3	cervix:	n/a	n/a
29	RUNX3	chr12:10547851-10548650	GM12878	blood:	n/a	n/a
30	GABPA	chr12:10548295-10548722	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:10547030-10548844	Hela-S3	cervix:	n/a	n/a
32	RFX5	chr12:10547955-10548686	Hela-S3	cervix:	n/a	n/a
33	FOXA1	chr12:10548191-10548663	HepG2	liver:	n/a	chr12:10548446-10548461 chr12:10548425-10548440
34	NR3C1	chr12:10548302-10548681	A549	lung:	n/a	n/a
35	GATA3	chr12:10548037-10548787	A549	lung:	n/a	n/a
36	MAX	chr12:10548293-10548677	Hela-S3	cervix:	n/a	n/a
37	FOXA1	chr12:10548235-10548660	HepG2	liver:	n/a	chr12:10548446-10548461 chr12:10548425-10548440
38	REST	chr12:10548184-10548789	A549	lung:	n/a	chr12:10548608-10548621
39	MYC	chr12:10548042-10548672	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA1	chr12:10548286-10548673	T-47D	breast:	n/a	chr12:10548446-10548461 chr12:10548425-10548440
41	EP300	chr12:10548305-10548650	T-47D	breast:	n/a	n/a
42	EP300	chr12:10547935-10548679	Hela-S3	cervix:	n/a	n/a
43	EP300	chr12:10547809-10548646	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:10548058-10548717	SK-N-MC	brain:	n/a	n/a
45	EP300	chr12:10548104-10548739	A549	lung:	n/a	n/a
46	TCF7L2	chr12:10548149-10548679	PANC-1	pancreas:	n/a	n/a
47	TEAD4	chr12:10548130-10548813	A549	lung:	n/a	n/a
48	ELF1	chr12:10548242-10548715	MCF-7	breast:	n/a	n/a
49	MAX	chr12:10548200-10548751	A549	lung:	n/a	n/a
50	MAX	chr12:10546880-10548691	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10548044..10548696-chr9:117267865..117268396,2	Hela-S3	cervix:
2	chr12:10547736..10550018-chr12:10555798..10557891,2	MCF-7	breast:

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:10544400-10550800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:10544600-10548800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:10544600-10549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:10545400-10549000	Enhancers	HMEC	breast
7	chr12:10547200-10549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:10547600-10549000	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:10547800-10548800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:10547800-10548800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:10547800-10548800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:10547800-10548800	Enhancers	HSMM	muscle
13	chr12:10547800-10548800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:10547800-10559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:10548000-10548800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:10548000-10548800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:10548000-10549000	Enhancers	Fetal Kidney	kidney
18	chr12:10548000-10549200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:10548000-10550000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:10548200-10549200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:10548400-10549200	Active TSS	A549	lung
22	chr12:10548400-10550000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:10548400-10550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10548400-10550600	Active TSS	Hela-S3	cervix
25	chr12:10548600-10548800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:10548600-10548800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:10548600-10548800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:10548600-10548800	Enhancers	NHEK	skin
29	chr12:10548600-10549000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:10548600-10549000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:10548600-10549200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:10548600-10549200	Enhancers	GM12878-XiMat	blood
33	chr12:10548600-10550000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:10548600-10550000	Weak transcription	Fetal Thymus	thymus
35	chr12:10548600-10550200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:10548600-10550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:10548600-10550400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:10548600-10550600	Enhancers	Primary T cells from cord blood	blood
39	chr12:10548600-10550600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:10548600-10557400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:10548600-10564000	Weak transcription	Brain Angular Gyrus	brain

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