Variant report

Variant	rs199928367
Chromosome Location	chr6:33755117-33755118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 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	POLR2A	chr6:33755036-33756338	PANC-1	pancreas:	n/a	n/a
4	CHD1	chr6:33753489-33757327	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:33754637-33757242	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr6:33754307-33756475	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr6:33754123-33757999	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr6:33754585-33758231	HepG2	liver:	n/a	n/a
9	MXI1	chr6:33754826-33757645	IMR90	lung:	n/a	n/a
10	POLR2A	chr6:33754388-33756268	K562	blood:	n/a	n/a
11	HCFC1	chr6:33754888-33757740	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr6:33755004-33755229	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33754812-33757308	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr6:33754909-33758028	IMR90	lung:	n/a	n/a
15	POLR2A	chr6:33754846-33755216	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:33754751-33757465	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr6:33754863-33757424	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:33754757-33755297	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:33754903-33758533	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr6:33755024-33757428	MCF10A-Er-Src	breast:	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
ENSG00000137288	Chromatin interaction
ENSG00000249346	Chromatin interaction
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv1217384	chr6:33755116-33755118	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv341254	chr6:33755117-33755118	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2061857	chr6:33755117-33755119	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 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	chr6:33751600-33755200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:33752600-33755200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:33752600-33755600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:33752800-33755200	Genic enhancers	Brain Hippocampus Middle	brain
5	chr6:33752800-33755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:33752800-33755400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr6:33752800-33755400	Genic enhancers	Placenta	Placenta
8	chr6:33753000-33755200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:33753000-33755200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:33753000-33755200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:33753000-33755200	Genic enhancers	HSMM	muscle
12	chr6:33753000-33755400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr6:33753000-33756000	Flanking Active TSS	HUVEC	blood vessel
14	chr6:33753200-33755200	Genic enhancers	Fetal Stomach	stomach
15	chr6:33753200-33755200	Genic enhancers	Thymus	Thymus
16	chr6:33753200-33755400	Enhancers	Fetal Heart	heart
17	chr6:33753200-33755400	Enhancers	Right Ventricle	heart
18	chr6:33753200-33755600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:33753400-33755200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:33753400-33755200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:33753400-33755200	Weak transcription	Esophagus	oesophagus
22	chr6:33753400-33755400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:33753400-33755600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:33753400-33755800	Enhancers	Spleen	Spleen
25	chr6:33753600-33755200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:33753600-33755200	Genic enhancers	Brain Angular Gyrus	brain
27	chr6:33753600-33755200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:33753600-33755200	Enhancers	HSMMtube	muscle
29	chr6:33753600-33755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:33753600-33755400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:33753600-33755400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:33753800-33755200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:33753800-33755400	Enhancers	Stomach Mucosa	stomach
34	chr6:33753800-33755600	Enhancers	Small Intestine	intestine
35	chr6:33753800-33755800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:33754000-33755200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:33754000-33755200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:33754000-33755200	Genic enhancers	Primary B cells from cord blood	blood
39	chr6:33754000-33755200	Enhancers	Brain Germinal Matrix	brain
40	chr6:33754000-33755200	Enhancers	Colonic Mucosa	Colon
41	chr6:33754000-33755400	Genic enhancers	Fetal Thymus	thymus
42	chr6:33754000-33755800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:33754000-33756000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:33754200-33755200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:33754200-33755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:33754200-33755200	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:33754200-33755400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:33754200-33755400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:33754200-33755400	Enhancers	Psoas Muscle	Psoas
50	chr6:33754200-33756400	Transcr. at gene 5' and 3'	Dnd41	blood

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