Variant report

Variant	rs749446
Chromosome Location	chr6:12010820-12010821
allele	A/C
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	MAFK	chr6:12010545-12011759	Hela-S3	cervix:	n/a	n/a
3	EBF1	chr6:12010483-12012310	GM12878	blood:	n/a	chr6:12010667-12010677
4	TBP	chr6:12009669-12011615	Hela-S3	cervix:	n/a	n/a
5	JUND	chr6:12010678-12012189	K562	blood:	n/a	chr6:12011448-12011460 chr6:12011036-12011050 chr6:12011569-12011578
6	POLR2A	chr6:12010105-12013773	GM18526	blood:	n/a	n/a
7	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
8	POU2F2	chr6:12010571-12011471	GM12878	blood:	n/a	chr6:12010843-12010865 chr6:12011087-12011098
9	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
10	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
11	TBP	chr6:12010743-12012679	K562	blood:	n/a	n/a
12	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
13	UBTF	chr6:12010585-12013855	K562	blood:	n/a	n/a
14	EP300	chr6:12009569-12011720	GM12878	blood:	n/a	chr6:12011101-12011115 chr6:12010307-12010317 chr6:12009953-12009967
15	CHD2	chr6:12010055-12011941	K562	blood:	n/a	chr6:12011541-12011551
16	RELA	chr6:12010383-12012385	GM19193	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
17	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
18	TBP	chr6:12009556-12011615	GM12878	blood:	n/a	n/a
19	MAFK	chr6:12010676-12010913	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
21	POLR2A	chr6:12010785-12010831	H1-hESC	embryonic stem cell:	n/a	n/a
22	RELA	chr6:12010519-12012437	GM12891	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
23	RELA	chr6:12010530-12011723	GM18951	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
24	EP300	chr6:12010653-12011948	GM12878	blood:	n/a	chr6:12011101-12011115
25	ZNF143	chr6:12009630-12011639	K562	blood:	n/a	n/a
26	MXI1	chr6:12010128-12011759	Hela-S3	cervix:	n/a	chr6:12011479-12011494
27	BCLAF1	chr6:12009970-12011802	GM12878	blood:	n/a	chr6:12010218-12010227 chr6:12011543-12011556
28	RELA	chr6:12010519-12011716	GM12878	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
29	CHD1	chr6:12008671-12011506	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:12010716-12012719	K562	blood:	n/a	n/a
31	TAF1	chr6:12010608-12012070	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
33	SP1	chr6:12010795-12011796	GM12878	blood:	n/a	chr6:12011546-12011558 chr6:12011632-12011644 chr6:12011547-12011557 chr6:12011393-12011407 chr6:12011546-12011557 chr6:12011548-12011557 chr6:12011543-12011557 chr6:12011547-12011557 chr6:12011633-12011642 chr6:12011521-12011532 chr6:12011547-12011556 chr6:12011393-12011402 chr6:12011548-12011557 chr6:12011632-12011644 chr6:12011546-12011558
34	POLR2A	chr6:12010517-12015551	HepG2	liver:	n/a	n/a
35	MTA3	chr6:12009555-12011567	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:12009383-12011763	GM12891	blood:	n/a	n/a
37	PAX5	chr6:12010734-12012064	GM12878	blood:	n/a	chr6:12012015-12012024 chr6:12011645-12011664
38	SPI1	chr6:12010799-12011501	GM12878	blood:	n/a	chr6:12011120-12011133
39	NFATC1	chr6:12009951-12011899	GM12878	blood:	n/a	n/a
40	MAZ	chr6:12010623-12013941	K562	blood:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
41	CUX1	chr6:12010492-12011468	K562	blood:	n/a	n/a
42	BHLHE40	chr6:12010710-12012448	GM12878	blood:	n/a	chr6:12012009-12012025
43	MAZ	chr6:12010135-12012381	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:12007639-12012082	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:12008323-12014175	GM18505	blood:	n/a	n/a
46	POLR2A	chr6:12008492-12013842	GM12892	blood:	n/a	n/a
47	RAD21	chr6:12010641-12011761	Hela-S3	cervix:	n/a	chr6:12011120-12011132
48	POU2F2	chr6:12010813-12011561	GM12891	blood:	n/a	chr6:12010843-12010865 chr6:12011087-12011098
49	SP1	chr6:12010771-12011458	H1-hESC	embryonic stem cell:	n/a	chr6:12011393-12011407 chr6:12011393-12011402
50	EP300	chr6:12010566-12011895	GM12878	blood:	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	chr6:11935076..11937337-chr6:12009000..12010923,2	K562	blood:
5	chr6:11880134..11882606-chr6:12009831..12012097,2	K562	blood:
6	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
7	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:
8	chr6:11916741..11918485-chr6:12009414..12011071,2	K562	blood:
9	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
10	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
11	chr11:76155540..76156298-chr6:12010242..12011092,2	Hela-S3	cervix:
12	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
13	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
14	chr6:11796589..11798464-chr6:12010178..12011844,2	K562	blood:
15	chr13:111268194..111268777-chr6:12010640..12011635,2	Hela-S3	cervix:
16	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000255135	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000078401	Chromatin interaction
ENSG00000158636	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2296576	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327464	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6458035	0.84[AFR][1000 genomes]
rs6905791	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6916066	0.96[AFR][1000 genomes]
rs913021	0.92[ASN][1000 genomes]
rs9369021	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs9470697	0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470751	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv333116	chr6:12010821-12010821	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	n/a	n/a

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	chr6:12009600-12011000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:12009600-12011000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:12009600-12011000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:12009600-12011200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:12009600-12011200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:12009600-12011200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:12009600-12011200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:12009600-12011200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:12009600-12011200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:12009600-12011200	Flanking Active TSS	Osteobl	bone
33	chr6:12009600-12011400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:12009600-12011400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:12009600-12013000	Active TSS	Right Atrium	heart
36	chr6:12009800-12011000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:12009800-12011000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:12009800-12011000	Flanking Active TSS	Liver	Liver
39	chr6:12009800-12011000	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr6:12009800-12011000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr6:12009800-12011000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:12009800-12011000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr6:12009800-12011000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:12009800-12011200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:12009800-12011200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:12009800-12011200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:12009800-12011200	Flanking Active TSS	HUVEC	blood vessel
48	chr6:12010000-12011000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:12010000-12011000	Flanking Active TSS	Fetal Heart	heart
50	chr6:12010000-12011000	Flanking Active TSS	Hela-S3	cervix

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