Variant report

Variant	rs549349861
Chromosome Location	chr6:33754986-33754987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33754660-33756447	PFSK-1	brain:	n/a	n/a
2	MAZ	chr6:33754791-33757409	IMR90	lung:	n/a	chr6:33756978-33756987
3	CHD1	chr6:33753489-33757327	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:33754637-33757242	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr6:33754307-33756475	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr6:33754123-33757999	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:33754585-33758231	HepG2	liver:	n/a	n/a
8	MXI1	chr6:33754826-33757645	IMR90	lung:	n/a	n/a
9	POLR2A	chr6:33754388-33756268	K562	blood:	n/a	n/a
10	HCFC1	chr6:33754888-33757740	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:33754812-33757308	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:33754909-33758028	IMR90	lung:	n/a	n/a
13	POLR2A	chr6:33754846-33755216	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:33754751-33757465	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr6:33754982-33755088	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:33754863-33757424	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr6:33754757-33755297	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:33754882-33755095	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:33754903-33758533	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
2	chr6:33754851..33757425-chr6:33862551..33864997,3	MCF-7	breast:
3	chr6:33743776..33747465-chr6:33751783..33755243,5	MCF-7	breast:

No data

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000249346	Chromatin interaction
ENSG00000161904	Chromatin interaction
ENSG00000137288	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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3436027	chr6:33754374-33758772	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 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	chr6:33746600-33755000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:33750400-33755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33751600-33755200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:33752000-33755000	Genic enhancers	Brain Cingulate Gyrus	brain
5	chr6:33752600-33755000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:33752600-33755200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:33752600-33755600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33752800-33755200	Genic enhancers	Brain Hippocampus Middle	brain
9	chr6:33752800-33755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:33752800-33755400	Genic enhancers	Fetal Muscle Leg	muscle
11	chr6:33752800-33755400	Genic enhancers	Placenta	Placenta
12	chr6:33753000-33755200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:33753000-33755200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:33753000-33755200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:33753000-33755200	Genic enhancers	HSMM	muscle
16	chr6:33753000-33755400	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr6:33753000-33756000	Flanking Active TSS	HUVEC	blood vessel
18	chr6:33753200-33755200	Genic enhancers	Fetal Stomach	stomach
19	chr6:33753200-33755200	Genic enhancers	Thymus	Thymus
20	chr6:33753200-33755400	Enhancers	Fetal Heart	heart
21	chr6:33753200-33755400	Enhancers	Right Ventricle	heart
22	chr6:33753200-33755600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:33753400-33755000	Weak transcription	Gastric	stomach
24	chr6:33753400-33755000	Genic enhancers	A549	lung
25	chr6:33753400-33755200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:33753400-33755200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:33753400-33755200	Weak transcription	Esophagus	oesophagus
28	chr6:33753400-33755400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:33753400-33755600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:33753400-33755800	Enhancers	Spleen	Spleen
31	chr6:33753600-33755000	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:33753600-33755200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:33753600-33755200	Genic enhancers	Brain Angular Gyrus	brain
34	chr6:33753600-33755200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:33753600-33755200	Enhancers	HSMMtube	muscle
36	chr6:33753600-33755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:33753600-33755400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:33753600-33755400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:33753800-33755200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:33753800-33755400	Enhancers	Stomach Mucosa	stomach
41	chr6:33753800-33755600	Enhancers	Small Intestine	intestine
42	chr6:33753800-33755800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:33754000-33755000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:33754000-33755000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:33754000-33755000	Enhancers	HepG2	liver
46	chr6:33754000-33755200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:33754000-33755200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:33754000-33755200	Genic enhancers	Primary B cells from cord blood	blood
49	chr6:33754000-33755200	Enhancers	Brain Germinal Matrix	brain
50	chr6:33754000-33755200	Enhancers	Colonic Mucosa	Colon

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