Variant report

Variant	rs10749855
Chromosome Location	chr1:45499806-45499807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45498340..45501082-chr1:45804198..45806208,2	K562	blood:
2	chr1:45498340..45501082-chr1:45804198..45806724,3	K562	blood:

Variant related genes	Relation type
ENSG00000132781	Chromatin interaction
ENSG00000132773	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10749853	1.00[AFR][1000 genomes]
rs10789453	0.82[AFR][1000 genomes]
rs174639	1.00[AFR][1000 genomes]
rs4660829	1.00[AFR][1000 genomes]
rs6429553	1.00[AFR][1000 genomes]
rs6666857	1.00[AFR][1000 genomes]
rs6698485	1.00[AFR][1000 genomes]
rs7512216	0.87[AFR][1000 genomes]
rs7515390	1.00[AFR][1000 genomes]
rs7533668	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:45480800-45500600	Weak transcription	HepG2	liver
4	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
5	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
7	chr1:45481200-45510200	Weak transcription	Lung	lung
8	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
10	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:45485800-45501400	Weak transcription	Ovary	ovary
13	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
14	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:45494600-45504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:45497400-45525400	Weak transcription	Gastric	stomach
18	chr1:45497800-45501000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:45497800-45501800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
21	chr1:45498200-45506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:45498600-45500000	Enhancers	Dnd41	blood
23	chr1:45498600-45500200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:45498600-45502000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:45499200-45502000	Strong transcription	Brain Anterior Caudate	brain
26	chr1:45499200-45502000	Strong transcription	Brain Germinal Matrix	brain
27	chr1:45499200-45502000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr1:45499200-45502400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:45499400-45500400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:45499400-45501200	Strong transcription	Fetal Intestine Small	intestine
32	chr1:45499400-45501400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:45499400-45502000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:45499400-45502400	Weak transcription	Hela-S3	cervix
35	chr1:45499600-45503200	Weak transcription	GM12878-XiMat	blood
36	chr1:45499800-45500000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:45499800-45500200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:45499800-45500200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:45499800-45500200	Strong transcription	Fetal Intestine Large	intestine
40	chr1:45499800-45501800	Strong transcription	Brain Hippocampus Middle	brain
41	chr1:45499800-45501800	Strong transcription	Brain Substantia Nigra	brain
42	chr1:45499800-45502000	Strong transcription	Brain Angular Gyrus	brain
43	chr1:45499800-45502000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:45499800-45502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:45499800-45502000	Strong transcription	Fetal Brain Female	brain
46	chr1:45499800-45502000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:45499800-45502600	Strong transcription	Fetal Stomach	stomach

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