Variant report

Variant	rs337186
Chromosome Location	chr1:220923701-220923702
allele	C/T
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	chr1:220923653-220923706	HUVEC	blood vessel:	n/a	n/a
2	SPI1	chr1:220923578-220923853	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220922191..220924696-chr1:220926273..220928216,2	MCF-7	breast:
2	chr1:220923442..220925865-chr7:104652802..104654696,2	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs14850	1.00[AMR][1000 genomes]
rs60139975	1.00[AMR][1000 genomes]
rs6702417	1.00[AMR][1000 genomes]
rs73092761	1.00[AMR][1000 genomes]
rs73092762	1.00[AMR][1000 genomes]
rs73107690	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220920800-220924000	Active TSS	Brain Anterior Caudate	brain
2	chr1:220920800-220924000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:220920800-220924200	Active TSS	Brain Angular Gyrus	brain
4	chr1:220921200-220924000	Active TSS	Aorta	Aorta
5	chr1:220921400-220923800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:220921400-220924200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:220921400-220924800	Active TSS	Fetal Intestine Small	intestine
8	chr1:220922000-220924200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:220922400-220924200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:220922400-220924200	Flanking Active TSS	Hela-S3	cervix
11	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
12	chr1:220922600-220923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:220922600-220923800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:220922600-220923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:220922600-220923800	Enhancers	Placenta	Placenta
16	chr1:220922600-220924400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:220922600-220924400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:220922600-220925200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:220922600-220925200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:220922600-220925400	Weak transcription	Gastric	stomach
21	chr1:220922600-220927000	Weak transcription	Small Intestine	intestine
22	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
25	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:220922800-220923800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:220922800-220923800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:220922800-220924000	Enhancers	A549	lung
31	chr1:220922800-220924200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:220922800-220924200	Enhancers	HUVEC	blood vessel
33	chr1:220922800-220924600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:220922800-220924800	Enhancers	Fetal Stomach	stomach
35	chr1:220922800-220925200	Enhancers	Stomach Mucosa	stomach
36	chr1:220922800-220925400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:220922800-220926000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:220923000-220923800	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:220923000-220924200	Flanking Active TSS	Fetal Heart	heart
43	chr1:220923000-220924200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:220923000-220924600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:220923000-220924800	Flanking Active TSS	Fetal Lung	lung
46	chr1:220923000-220925200	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr1:220923200-220924000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:220923200-220925200	Enhancers	Colonic Mucosa	Colon
49	chr1:220923200-220925600	Enhancers	HepG2	liver
50	chr1:220923200-220926600	Weak transcription	Fetal Muscle Trunk	muscle

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