Variant report

Variant	rs10918297
Chromosome Location	chr1:165832276-165832277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165829494..165832615-chr1:165834551..165836998,3	K562	blood:
2	chr1:165815197..165817590-chr1:165830111..165832857,2	K562	blood:
3	chr1:165824047..165827978-chr1:165829041..165832736,3	K562	blood:
4	chr1:165796425..165798673-chr1:165831080..165836072,5	K562	blood:
5	chr1:165737521..165739447-chr1:165830879..165832839,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10159235	0.81[EUR][1000 genomes]
rs10494448	0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10918301	0.85[EUR][1000 genomes]
rs12080800	0.85[CEU][hapmap]
rs12121204	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12125493	0.85[CEU][hapmap]
rs12562047	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16851949	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs2225980	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4657486	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs61802911	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv437246	chr1:165822891-165860813	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165823600-165833000	Weak transcription	Hela-S3	cervix
2	chr1:165823600-165834000	Weak transcription	Aorta	Aorta
3	chr1:165823600-165834600	Weak transcription	Fetal Stomach	stomach
4	chr1:165823800-165838000	Weak transcription	Fetal Lung	lung
5	chr1:165823800-165840200	Weak transcription	HUVEC	blood vessel
6	chr1:165825400-165839800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:165825600-165837800	Weak transcription	Fetal Brain Female	brain
8	chr1:165826400-165835000	Genic enhancers	Dnd41	blood
9	chr1:165826600-165840600	Weak transcription	NH-A	brain
10	chr1:165827000-165834200	Weak transcription	Osteobl	bone
11	chr1:165827800-165834600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:165827800-165840600	Weak transcription	NHLF	lung
13	chr1:165828000-165847200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:165828200-165832400	Weak transcription	A549	lung
16	chr1:165828200-165833000	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:165828200-165836800	Weak transcription	NHDF-Ad	bronchial
18	chr1:165828200-165843400	Weak transcription	NHEK	skin
19	chr1:165828400-165834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:165829200-165832600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:165829200-165832600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:165829200-165838400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:165829200-165840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:165829400-165832600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:165829400-165843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:165829600-165834800	Weak transcription	HepG2	liver
27	chr1:165829600-165840200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:165829600-165840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:165829600-165840600	Weak transcription	Esophagus	oesophagus
30	chr1:165830000-165833000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:165830400-165833600	Enhancers	Fetal Thymus	thymus
32	chr1:165830400-165834800	Weak transcription	Small Intestine	intestine
33	chr1:165831000-165832600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:165831000-165832600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:165831000-165832600	Enhancers	Brain Germinal Matrix	brain
36	chr1:165831000-165832800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:165831000-165833000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:165831000-165833000	Enhancers	Thymus	Thymus
39	chr1:165831000-165833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:165831200-165832400	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:165831200-165832400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:165831200-165832400	Enhancers	Fetal Muscle Leg	muscle
43	chr1:165831200-165832400	Enhancers	Stomach Mucosa	stomach
44	chr1:165831200-165832600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:165831200-165832800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:165831200-165832800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:165831200-165832800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:165831200-165832800	Enhancers	Fetal Heart	heart
49	chr1:165831200-165832800	Enhancers	Psoas Muscle	Psoas
50	chr1:165831200-165832800	Enhancers	HSMMtube	muscle

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