Variant report

Variant	rs12737863
Chromosome Location	chr1:226232438-226232439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226230348..226233230-chr1:226248093..226250395,4	K562	blood:
2	chr1:226229920..226233230-chr1:226248895..226251969,4	K562	blood:
3	chr1:226230974..226235465-chr1:226248759..226251188,4	MCF-7	breast:
4	chr1:226219330..226221249-chr1:226229665..226232584,2	K562	blood:
5	chr1:226229684..226233294-chr1:226250469..226253928,4	K562	blood:
6	chr1:226227191..226229387-chr1:226231230..226233300,3	K562	blood:
7	chr1:226232126..226234237-chr1:226235651..226237839,2	MCF-7	breast:
8	chr1:226190654..226192155-chr1:226232057..226233716,2	K562	blood:
9	chr1:226227406..226229526-chr1:226230036..226232756,2	K562	blood:
10	chr1:226188139..226192155-chr1:226228386..226234051,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12752329	0.91[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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226217800-226234400	Weak transcription	Colonic Mucosa	Colon
2	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:226222600-226241400	Weak transcription	Liver	Liver
4	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:226223000-226242000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:226223600-226234600	Weak transcription	K562	blood
8	chr1:226223800-226238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:226223800-226242400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:226224200-226235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:226225400-226242400	Weak transcription	Fetal Brain Female	brain
12	chr1:226226000-226248000	Weak transcription	Left Ventricle	heart
13	chr1:226226600-226234200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:226228000-226235000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:226228800-226242200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:226229600-226241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:226229600-226248200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
19	chr1:226230000-226234400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
21	chr1:226231000-226232600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:226231000-226241600	Weak transcription	Fetal Thymus	thymus
23	chr1:226231200-226242200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:226231200-226242400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
26	chr1:226231400-226232600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:226231600-226232800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:226231600-226233200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:226231800-226232800	Enhancers	Ovary	ovary
30	chr1:226232000-226232600	Strong transcription	Brain Substantia Nigra	brain
31	chr1:226232000-226232800	Strong transcription	Thymus	Thymus
32	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:226232200-226232800	Strong transcription	Primary B cells from cord blood	blood
34	chr1:226232200-226232800	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr1:226232200-226233000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:226232200-226233200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr1:226232200-226249400	Weak transcription	Gastric	stomach
38	chr1:226232400-226232600	Enhancers	NHLF	lung

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