Variant report

Variant	rs149555004
Chromosome Location	chr1:92765759-92765760
allele	C/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
3	MXI1	chr1:92763179-92765794	SK-N-SH	brain:	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
ENSG00000174842	Chromatin interaction
ENSG00000172031	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	chr1:92763200-92765800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:92763200-92765800	Active TSS	A549	lung
4	chr1:92763200-92766200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:92763400-92765800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:92763400-92765800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:92763400-92765800	Active TSS	HepG2	liver
9	chr1:92763400-92766000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:92763600-92765800	Active TSS	Fetal Intestine Large	intestine
11	chr1:92763800-92765800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:92763800-92765800	Active TSS	Ovary	ovary
13	chr1:92763800-92766000	Active TSS	Fetal Brain Male	brain
14	chr1:92763800-92766000	Active TSS	Fetal Intestine Small	intestine
15	chr1:92765000-92765800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:92765000-92765800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:92765000-92766200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr1:92765000-92766200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:92765000-92766600	Flanking Active TSS	Dnd41	blood
20	chr1:92765200-92765800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:92765200-92765800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:92765200-92765800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:92765200-92765800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:92765200-92765800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:92765200-92765800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:92765200-92765800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:92765200-92765800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:92765200-92765800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:92765200-92765800	Flanking Active TSS	Liver	Liver
30	chr1:92765200-92765800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr1:92765200-92765800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr1:92765200-92765800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr1:92765200-92765800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:92765200-92765800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:92765200-92765800	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr1:92765200-92765800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr1:92765200-92765800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:92765200-92765800	Flanking Active TSS	Fetal Heart	heart
39	chr1:92765200-92765800	Flanking Active TSS	Fetal Kidney	kidney
40	chr1:92765200-92765800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:92765200-92765800	Flanking Active TSS	Fetal Lung	lung
42	chr1:92765200-92765800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:92765200-92765800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr1:92765200-92765800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:92765200-92765800	Enhancers	Small Intestine	intestine
46	chr1:92765200-92765800	Flanking Active TSS	NH-A	brain
47	chr1:92765200-92765800	Flanking Active TSS	NHEK	skin
48	chr1:92765200-92765800	Flanking Active TSS	NHLF	lung
49	chr1:92765200-92765800	Flanking Active TSS	Osteobl	bone
50	chr1:92765200-92766000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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