Variant report

Variant	rs72757045
Chromosome Location	chr1:226235289-226235290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226228777..226230781-chr1:226233649..226235450,2	K562	blood:
2	chr1:226230974..226235465-chr1:226248759..226251188,4	MCF-7	breast:
3	chr1:226186881..226188949-chr1:226234409..226236523,2	MCF-7	breast:
4	chr1:226220194..226222275-chr1:226233955..226236306,2	K562	blood:
5	chr1:226234724..226236759-chr1:226248520..226251934,3	MCF-7	breast:
6	chr1:226195886..226198130-chr1:226234850..226237174,2	K562	blood:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55946391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60311516	0.83[ASN][1000 genomes]
rs73083551	0.81[ASN][1000 genomes]
rs73083553	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv523155	chr1:226234883-226239830	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv524575	chr1:226234883-226242772	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:226222600-226241400	Weak transcription	Liver	Liver
3	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:226223000-226242000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:226223800-226238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:226223800-226242400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:226225400-226242400	Weak transcription	Fetal Brain Female	brain
9	chr1:226226000-226248000	Weak transcription	Left Ventricle	heart
10	chr1:226228800-226242200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:226229600-226241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:226229600-226248200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
14	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
15	chr1:226231000-226241600	Weak transcription	Fetal Thymus	thymus
16	chr1:226231200-226242200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:226231200-226242400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
19	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:226232200-226249400	Weak transcription	Gastric	stomach
21	chr1:226232600-226248600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:226232800-226242000	Weak transcription	Thymus	Thymus
23	chr1:226233600-226235400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:226233600-226235400	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:226233600-226235600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:226233600-226235600	Enhancers	Fetal Intestine Small	intestine
27	chr1:226233600-226235600	Enhancers	Osteobl	bone
28	chr1:226233600-226235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:226233800-226235800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:226234000-226235400	Enhancers	Esophagus	oesophagus
31	chr1:226234200-226235800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:226234400-226235800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:226234600-226235800	Enhancers	Ovary	ovary
34	chr1:226234600-226235800	Enhancers	A549	lung
35	chr1:226234600-226235800	Enhancers	K562	blood
36	chr1:226234600-226243400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:226234600-226248000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:226234600-226248800	Weak transcription	HSMM	muscle
39	chr1:226234800-226248800	Weak transcription	HSMMtube	muscle
40	chr1:226235000-226235400	Enhancers	Brain Hippocampus Middle	brain
41	chr1:226235000-226235600	Enhancers	Adipose Nuclei	Adipose
42	chr1:226235000-226235800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:226235000-226238000	Weak transcription	Primary T cells from cord blood	blood
44	chr1:226235000-226248200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:226235000-226248800	Weak transcription	Colonic Mucosa	Colon
46	chr1:226235200-226235400	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:226235200-226235600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr1:226235200-226235600	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:226235200-226235600	Weak transcription	Stomach Mucosa	stomach
50	chr1:226235200-226235800	Enhancers	Primary monocytes fromperipheralblood	blood

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