Variant report

Variant	rs533449197
Chromosome Location	chr1:92765894-92765895
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	POLR2A	chr1:92763434-92766187	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:92765250-92765894	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92494741..92496705-chr1:92764193..92766152,2	MCF-7	breast:
2	chr1:92751701..92754444-chr1:92763776..92766491,2	MCF-7	breast:
3	chr1:92764662..92766279-chr1:92768201..92769903,2	MCF-7	breast:

Variant related genes	Relation type
GLMN	TF binding region
ENSG00000172031	Chromatin interaction
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92762800-92767200	Active TSS	GM12878-XiMat	blood
2	chr1:92763200-92766200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:92763400-92766000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:92763800-92766000	Active TSS	Fetal Brain Male	brain
6	chr1:92763800-92766000	Active TSS	Fetal Intestine Small	intestine
7	chr1:92765000-92766200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr1:92765000-92766200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:92765000-92766600	Flanking Active TSS	Dnd41	blood
10	chr1:92765200-92766000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:92765200-92766000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:92765200-92766000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr1:92765200-92766000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:92765200-92766200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:92765200-92766200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:92765200-92766200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:92765200-92766200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:92765200-92766200	Flanking Active TSS	Hela-S3	cervix
19	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
21	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
22	chr1:92765400-92766000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:92765400-92766000	Flanking Active TSS	HMEC	breast
24	chr1:92765400-92766200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:92765400-92766200	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:92765400-92766200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:92765400-92766200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:92765400-92766200	Enhancers	Stomach Mucosa	stomach
29	chr1:92765400-92767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:92765400-92769400	Weak transcription	Placenta	Placenta
31	chr1:92765400-92772200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:92765600-92766000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:92765600-92766000	Transcr. at gene 5' and 3'	K562	blood
34	chr1:92765600-92766200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:92765600-92766200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:92765600-92766200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:92765600-92766400	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:92765600-92766400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:92765600-92766600	Enhancers	Brain Germinal Matrix	brain
40	chr1:92765600-92766800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:92765600-92766800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:92765600-92766800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:92765600-92767200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:92765600-92767200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:92765600-92767800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:92765600-92768400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:92765600-92768800	Weak transcription	HSMM	muscle
48	chr1:92765600-92769400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:92765600-92769600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:92765600-92770000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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