Variant report

Variant	rs574873857
Chromosome Location	chr6:146057544-146057545
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	POLR2A	chr6:146055017-146057985	GM12878	blood:	n/a	n/a
2	MAFF	chr6:146057430-146057630	HepG2	liver:	n/a	chr6:146057511-146057529
3	MXI1	chr6:146054723-146057920	SK-N-SH	brain:	n/a	n/a
4	MAFF	chr6:146057010-146058120	K562	blood:	n/a	chr6:146057511-146057529
5	POLR2A	chr6:146055750-146058001	GM19099	blood:	n/a	n/a
6	MAFK	chr6:146056895-146058034	K562	blood:	n/a	chr6:146057517-146057528 chr6:146057515-146057529 chr6:146057512-146057527 chr6:146057516-146057527 chr6:146057517-146057528 chr6:146057512-146057528
7	POLR2A	chr6:146055787-146057628	GM12878	blood:	n/a	n/a
8	MAFK	chr6:146057359-146057688	HepG2	liver:	n/a	chr6:146057517-146057528 chr6:146057515-146057529 chr6:146057512-146057527 chr6:146057516-146057527 chr6:146057517-146057528 chr6:146057512-146057528
9	POLR2A	chr6:146055289-146058747	K562	blood:	n/a	n/a
10	POLR2A	chr6:146055683-146058281	GM12891	blood:	n/a	n/a
11	ZNF384	chr6:146054969-146057583	K562	blood:	n/a	n/a
12	POLR2A	chr6:146055006-146058050	K562	blood:	n/a	n/a
13	ZNF384	chr6:146057192-146057570	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr6:146055836-146057593	GM12878	blood:	n/a	n/a
15	MYC	chr6:146055690-146057945	A549	lung:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
16	MAFK	chr6:146057376-146057651	HepG2	liver:	n/a	chr6:146057517-146057528 chr6:146057515-146057529 chr6:146057512-146057527 chr6:146057516-146057527 chr6:146057517-146057528 chr6:146057512-146057528
17	POLR2A	chr6:146055179-146057616	K562	blood:	n/a	n/a
18	MEF2A	chr6:146056415-146057607	GM12878	blood:	n/a	chr6:146057493-146057508 chr6:146057493-146057508 chr6:146057309-146057330
19	POLR2A	chr6:146055161-146058357	IMR90	lung:	n/a	n/a
20	POLR2A	chr6:146055026-146057665	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:146055061-146058277	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFK	chr6:146055778-146057630	Hela-S3	cervix:	n/a	chr6:146057517-146057528 chr6:146057515-146057529 chr6:146057512-146057527 chr6:146057516-146057527 chr6:146057517-146057528 chr6:146057512-146057528
23	CTCF	chr6:146056457-146057628	K562	blood:	n/a	n/a
24	POLR2A	chr6:146055049-146057737	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:43595203..43596723-chr6:146055866..146057723,2	MCF-7	breast:
2	chr6:146054764..146058281-chr6:146133205..146137397,13	MCF-7	breast:
3	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
4	chr6:146055814..146058166-chr6:146135376..146138309,3	MCF-7	breast:
5	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
6	chr1:110950353..110950869-chr6:146056622..146057613,2	Hela-S3	cervix:
7	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
8	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
9	chr6:146054743..146057884-chr6:146276241..146279001,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM1-11	chr6:146056706-146058354	ENSG00000270638.1

Variant related genes	Relation type
EPM2A	TF binding region
ENSG00000146414	Chromatin interaction
ENSG00000118496	Chromatin interaction
ENSG00000224699	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000134248	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv3424432	chr6:146041308-146057603	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3471925	chr6:146054784-146057832	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3471926	chr6:146054784-146057832	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3384876	chr6:146055559-146057657	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv970354	chr6:146057495-146060252	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146054800-146057800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:146054800-146058400	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:146055000-146057600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:146055000-146057600	Active TSS	Colon Smooth Muscle	Colon
5	chr6:146055000-146057800	Active TSS	Brain Angular Gyrus	brain
6	chr6:146055000-146058000	Active TSS	Fetal Stomach	stomach
7	chr6:146055000-146058000	Active TSS	Thymus	Thymus
8	chr6:146055000-146058400	Active TSS	Brain Germinal Matrix	brain
9	chr6:146055000-146058400	Active TSS	Right Atrium	heart
10	chr6:146055200-146057600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:146055200-146058000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:146055200-146058000	Active TSS	Fetal Muscle Leg	muscle
13	chr6:146055200-146058400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:146055400-146057600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:146055400-146057600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:146055400-146057600	Active TSS	Fetal Intestine Large	intestine
17	chr6:146055400-146057600	Active TSS	Fetal Lung	lung
18	chr6:146055400-146057800	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:146055400-146058000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:146055400-146058000	Active TSS	GM12878-XiMat	blood
21	chr6:146055400-146058400	Active TSS	Brain Anterior Caudate	brain
22	chr6:146055600-146057600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:146055600-146057600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:146055600-146057600	Active TSS	Primary T cells from cord blood	blood
25	chr6:146055600-146057600	Active TSS	Brain Hippocampus Middle	brain
26	chr6:146055600-146057600	Active TSS	Fetal Brain Male	brain
27	chr6:146055600-146057600	Active TSS	NHDF-Ad	bronchial
28	chr6:146055600-146058000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr6:146055600-146058000	Active TSS	Brain Cingulate Gyrus	brain
30	chr6:146055600-146058200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:146055600-146058200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:146055600-146058200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:146055600-146058200	Active TSS	Fetal Brain Female	brain
34	chr6:146055600-146058400	Active TSS	HSMMtube	muscle
35	chr6:146055600-146058800	Active TSS	Aorta	Aorta
36	chr6:146055800-146057600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:146055800-146057800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:146056000-146057800	Active TSS	Primary B cells from peripheral blood	blood
39	chr6:146056800-146057600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:146056800-146057600	Flanking Active TSS	HUVEC	blood vessel
41	chr6:146056800-146057600	Flanking Active TSS	Osteobl	bone
42	chr6:146056800-146057800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:146056800-146057800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:146056800-146057800	Flanking Active TSS	NH-A	brain
45	chr6:146056800-146058000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:146056800-146058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:146056800-146058200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:146056800-146058400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr6:146056800-146058400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:146057000-146057600	Flanking Active TSS	HMEC	breast

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