Variant report

Variant	rs534300149
Chromosome Location	chr6:12008444-12008445
allele	A/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	ZMIZ1	chr6:12008264-12009836	K562	blood:	n/a	n/a
2	STAT5A	chr6:12008337-12009358	GM12878	blood:	n/a	n/a
3	TEAD4	chr6:12008221-12009775	K562	blood:	n/a	n/a
4	TCF7L2	chr6:12008006-12009276	HEK293	kidney:	n/a	chr6:12008919-12008933
5	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326
6	MAX	chr6:12008442-12009754	A549	lung:	n/a	chr6:12009161-12009170
7	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
8	TRIM28	chr6:12008373-12009400	K562	blood:	n/a	n/a
9	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
10	RELA	chr6:12008424-12009289	GM18505	blood:	n/a	chr6:12009245-12009254 chr6:12009245-12009254
11	CCNT2	chr6:12008406-12009802	K562	blood:	n/a	n/a
12	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
13	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
14	POLR2A	chr6:12008070-12008464	GM12891	blood:	n/a	n/a
15	HEY1	chr6:12008281-12009349	HepG2	liver:	n/a	chr6:12009252-12009267
16	POLR2A	chr6:12007820-12009828	K562	blood:	n/a	n/a
17	ZNF274	chr6:12008258-12009036	K562	blood:	n/a	n/a
18	MAZ	chr6:12008275-12009889	K562	blood:	n/a	chr6:12009161-12009170
19	POLR2A	chr6:12008438-12009803	K562	blood:	n/a	n/a
20	STAT5A	chr6:12008384-12009171	K562	blood:	n/a	n/a
21	POLR2A	chr6:12007701-12009371	GM12891	blood:	n/a	n/a
22	JUN	chr6:12008032-12009732	K562	blood:	n/a	n/a
23	NFIC	chr6:12008439-12009303	GM12878	blood:	n/a	n/a
24	NRF1	chr6:12008316-12008679	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
26	PML	chr6:12008292-12009434	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:12007769-12009891	K562	blood:	n/a	n/a
28	ZNF143	chr6:12008165-12009236	K562	blood:	n/a	n/a
29	BCLAF1	chr6:12008409-12009390	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
30	POLR2A	chr6:12007639-12012082	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:12008323-12014175	GM18505	blood:	n/a	n/a
32	PML	chr6:12008231-12009376	K562	blood:	n/a	n/a
33	NR2F2	chr6:12008388-12009481	K562	blood:	n/a	n/a
34	GATA3	chr6:12008426-12009528	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:12007582-12014072	GM12892	blood:	n/a	n/a
36	POLR2A	chr6:12008409-12009680	Hela-S3	cervix:	n/a	n/a
37	GATA3	chr6:12008351-12009599	MCF-7	breast:	n/a	n/a
38	EP300	chr6:12008396-12009190	GM12878	blood:	n/a	n/a
39	IRF1	chr6:12008208-12011756	K562	blood:	n/a	chr6:12009956-12009970 chr6:12009959-12009970 chr6:12011616-12011630 chr6:12011619-12011630 chr6:12009958-12009972 chr6:12011445-12011452 chr6:12010217-12010227 chr6:12011546-12011560 chr6:12011345-12011356
40	POLR2A	chr6:12008441-12008969	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr6:12007665-12011477	GM12892	blood:	n/a	n/a
42	MAFF	chr6:12008226-12009100	K562	blood:	n/a	n/a
43	RUNX3	chr6:12008443-12009366	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:12007700-12012763	K562	blood:	n/a	n/a
45	YY1	chr6:12008430-12009054	ECC-1	luminal epithelium:	n/a	n/a
46	CBX3	chr6:12008337-12009847	K562	blood:	n/a	n/a
47	MAFF	chr6:12008336-12008961	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:12008248-12009861	K562	blood:	n/a	n/a
49	MAX	chr6:12008383-12009809	HepG2	liver:	n/a	chr6:12009161-12009170
50	EP300	chr6:12008176-12012345	K562	blood:	n/a	chr6:12009312-12009321 chr6:12012019-12012028 chr6:12009255-12009271 chr6:12011933-12011949 chr6:12011101-12011115 chr6:12010307-12010317 chr6:12009953-12009967

No.	Distal block	Cell Line	Cell type
1	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
2	chr13:53024029..53024646-chr6:12008218..12008734,2	Hela-S3	cervix:
3	chr12:57029606..57030383-chr6:12008234..12009003,2	Hela-S3	cervix:
4	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000076108	Chromatin interaction
ENSG00000136100	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000225102	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12007200-12008600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:12007400-12013400	Active TSS	K562	blood
3	chr6:12007600-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:12007800-12008600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:12007800-12008600	Enhancers	Small Intestine	intestine
6	chr6:12007800-12008800	Flanking Active TSS	Hela-S3	cervix
7	chr6:12007800-12008800	Flanking Active TSS	NHEK	skin
8	chr6:12007800-12009800	Active TSS	Liver	Liver
9	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
11	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:12008000-12008600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:12008000-12008600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:12008000-12008600	Enhancers	Brain Germinal Matrix	brain
15	chr6:12008000-12008800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:12008000-12008800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:12008000-12009000	Active TSS	Fetal Brain Male	brain
18	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:12008200-12008600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:12008200-12008600	Flanking Active TSS	Fetal Heart	heart
21	chr6:12008200-12008600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:12008200-12008600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
23	chr6:12008200-12008600	Enhancers	Stomach Mucosa	stomach
24	chr6:12008200-12008800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:12008200-12008800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:12008200-12008800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:12008200-12008800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:12008200-12008800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:12008200-12008800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr6:12008200-12008800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr6:12008200-12008800	Flanking Active TSS	Fetal Lung	lung
36	chr6:12008200-12008800	Flanking Active TSS	Fetal Stomach	stomach
37	chr6:12008200-12008800	Flanking Active TSS	GM12878-XiMat	blood
38	chr6:12008200-12009000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:12008200-12009200	Flanking Active TSS	HMEC	breast
40	chr6:12008200-12009800	Active TSS	Fetal Intestine Large	intestine
41	chr6:12008200-12010200	Active TSS	A549	lung
42	chr6:12008200-12010600	Active TSS	Fetal Muscle Leg	muscle
43	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:12008400-12008600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:12008400-12008600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:12008400-12008600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:12008400-12008600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:12008400-12008600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:12008400-12008600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:12008400-12008600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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