Variant report

Variant	rs138145443
Chromosome Location	chr6:12011253-12011254
allele	C/G
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	PAX5	chr6:12010819-12011473	GM12878	blood:	n/a	n/a
2	EGR1	chr6:12011101-12012668	K562	blood:	n/a	chr6:12011821-12011835
3	POLR2A	chr6:12011102-12012133	HCT-116	colon:	n/a	n/a
4	BATF	chr6:12011160-12011582	GM12878	blood:	n/a	chr6:12011567-12011580 chr6:12011445-12011453
5	MAFK	chr6:12010545-12011759	Hela-S3	cervix:	n/a	n/a
6	EBF1	chr6:12010483-12012310	GM12878	blood:	n/a	chr6:12010667-12010677
7	TBP	chr6:12009669-12011615	Hela-S3	cervix:	n/a	n/a
8	MEF2A	chr6:12010957-12011952	SK-N-SH	brain:	n/a	chr6:12011416-12011431 chr6:12011309-12011330 chr6:12011309-12011330
9	EP300	chr6:12011084-12011917	HepG2	liver:	n/a	chr6:12011101-12011115
10	EP300	chr6:12011160-12011653	GM12878	blood:	n/a	n/a
11	TCF12	chr6:12010979-12012135	SK-N-SH	brain:	n/a	n/a
12	MAZ	chr6:12010903-12013983	IMR90	lung:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
13	TEAD4	chr6:12011052-12011975	SK-N-SH	brain:	n/a	n/a
14	YY1	chr6:12010872-12011447	GM12892	blood:	n/a	n/a
15	JUND	chr6:12010678-12012189	K562	blood:	n/a	chr6:12011448-12011460 chr6:12011036-12011050 chr6:12011569-12011578
16	POLR2A	chr6:12010105-12013773	GM18526	blood:	n/a	n/a
17	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
18	PAX5	chr6:12011245-12011685	GM12878	blood:	n/a	chr6:12011645-12011664
19	POLR2A	chr6:12010830-12011470	Hela-S3	cervix:	n/a	n/a
20	POU2F2	chr6:12010571-12011471	GM12878	blood:	n/a	chr6:12010843-12010865 chr6:12011087-12011098
21	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
22	CEBPB	chr6:12011171-12011779	K562	blood:	n/a	n/a
23	SMC3	chr6:12010955-12011345	K562	blood:	n/a	n/a
24	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
25	TBP	chr6:12010743-12012679	K562	blood:	n/a	n/a
26	TAF1	chr6:12010969-12011458	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:12010936-12011458	HUVEC	blood vessel:	n/a	n/a
28	SP1	chr6:12010849-12011301	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr6:12011034-12012367	HepG2	liver:	n/a	chr6:12011567-12011580
30	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
31	UBTF	chr6:12010585-12013855	K562	blood:	n/a	n/a
32	EP300	chr6:12009569-12011720	GM12878	blood:	n/a	chr6:12011101-12011115 chr6:12010307-12010317 chr6:12009953-12009967
33	POLR2A	chr6:12010933-12011888	HepG2	liver:	n/a	n/a
34	POU2F2	chr6:12010851-12011807	GM12891	blood:	n/a	chr6:12011087-12011098
35	TCF7L2	chr6:12011072-12011733	Hela-S3	cervix:	n/a	n/a
36	ZNF384	chr6:12010892-12011610	K562	blood:	n/a	n/a
37	TCF12	chr6:12010845-12011969	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3A	chr6:12011163-12011431	GM12878	blood:	n/a	n/a
39	CHD2	chr6:12010055-12011941	K562	blood:	n/a	chr6:12011541-12011551
40	CEBPB	chr6:12010929-12011732	GM12878	blood:	n/a	n/a
41	RELA	chr6:12010383-12012385	GM19193	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
42	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
43	TBP	chr6:12009556-12011615	GM12878	blood:	n/a	n/a
44	FOS	chr6:12011241-12011796	MCF10A-Er-Src	breast:	n/a	chr6:12011448-12011460 chr6:12011569-12011578
45	ZNF143	chr6:12011091-12012376	GM12878	blood:	n/a	chr6:12012018-12012028
46	BCL11A	chr6:12010848-12011768	GM12878	blood:	n/a	chr6:12011543-12011556
47	TEAD4	chr6:12011035-12012390	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
49	CREB1	chr6:12010970-12012413	GM12878	blood:	n/a	chr6:12011567-12011580
50	EP300	chr6:12011035-12011802	HepG2	liver:	n/a	chr6:12011101-12011115

No.	Distal block	Cell Line	Cell type
1	chr6:11873602..11875677-chr6:12009027..12011838,2	K562	blood:
2	chr6:12009789..12012137-chr6:12043704..12046977,3	MCF-7	breast:
3	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
4	chr6:11880134..11882606-chr6:12009831..12012097,2	K562	blood:
5	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
6	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:
7	chr6:11990349..11993299-chr6:12011133..12012920,2	MCF-7	breast:
8	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
9	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
10	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
11	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
12	chr6:11796589..11798464-chr6:12010178..12011844,2	K562	blood:
13	chr13:111268194..111268777-chr6:12010640..12011635,2	Hela-S3	cervix:
14	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000225102	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv10446	chr6:12008060-12013799	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3340023	chr6:12010391-12013339	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3325502	chr6:12010691-12013714	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3388541	chr6:12011066-12013514	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3327745	chr6:12011191-12014339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12007400-12013400	Active TSS	K562	blood
2	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
3	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:12008400-12011400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:12008400-12011600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:12008400-12013600	Active TSS	Psoas Muscle	Psoas
8	chr6:12008400-12013800	Active TSS	Right Ventricle	heart
9	chr6:12008400-12014200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:12008600-12011400	Active TSS	Placenta Amnion	Placenta Amnion
11	chr6:12008600-12011800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:12008600-12014000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:12008600-12014000	Active TSS	Colonic Mucosa	Colon
14	chr6:12008600-12014200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr6:12008600-12014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:12008600-12014400	Active TSS	Aorta	Aorta
17	chr6:12008800-12011400	Active TSS	GM12878-XiMat	blood
18	chr6:12008800-12013600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:12008800-12013800	Active TSS	NHEK	skin
20	chr6:12008800-12014400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:12009000-12013000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:12009400-12011400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:12009600-12011400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:12009600-12011400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:12009600-12013000	Active TSS	Right Atrium	heart
26	chr6:12010400-12011400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:12010400-12011400	Active TSS	Brain Anterior Caudate	brain
28	chr6:12010400-12011600	Active TSS	Fetal Kidney	kidney
29	chr6:12010400-12013800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:12010600-12011400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:12010600-12011400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:12010600-12011400	ZNF genes & repeats	Fetal Brain Male	brain
33	chr6:12010600-12011400	Flanking Active TSS	Fetal Thymus	thymus
34	chr6:12010600-12013600	Active TSS	HSMM	muscle
35	chr6:12010600-12013800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:12010600-12013800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:12010600-12013800	Active TSS	Left Ventricle	heart
38	chr6:12010600-12013800	Active TSS	Lung	lung
39	chr6:12010600-12013800	Active TSS	NHDF-Ad	bronchial
40	chr6:12010600-12014000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:12010600-12014000	Active TSS	Ovary	ovary
42	chr6:12010600-12014200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:12010600-12014400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:12010800-12011400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:12010800-12011400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:12010800-12011400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:12010800-12011400	Active TSS	Gastric	stomach
48	chr6:12010800-12011400	Active TSS	Stomach Mucosa	stomach
49	chr6:12010800-12011400	Active TSS	Spleen	Spleen
50	chr6:12010800-12011400	Active TSS	A549	lung

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