Variant report

Variant	rs10494448
Chromosome Location	chr1:165831128-165831129
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr1:165830166..165831693-chr1:165839207..165841395,2	MCF-7	breast:
4	chr1:165819266..165822080-chr1:165829077..165831771,2	MCF-7	breast:
5	chr1:165824047..165827978-chr1:165829041..165832736,3	K562	blood:
6	chr1:165796425..165798673-chr1:165831080..165836072,5	K562	blood:
7	chr1:165826478..165828837-chr1:165829538..165831433,3	K562	blood:
8	chr1:165737521..165739447-chr1:165830879..165832839,2	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10159235	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10918297	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]
rs12121204	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12562047	0.89[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16851949	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2225980	0.95[YRI][hapmap];0.85[EUR][1000 genomes]
rs4657486	0.90[EUR][1000 genomes]
rs61802911	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165821000-165832200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:165823600-165831200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:165823600-165833000	Weak transcription	Hela-S3	cervix
4	chr1:165823600-165834000	Weak transcription	Aorta	Aorta
5	chr1:165823600-165834600	Weak transcription	Fetal Stomach	stomach
6	chr1:165823800-165838000	Weak transcription	Fetal Lung	lung
7	chr1:165823800-165840200	Weak transcription	HUVEC	blood vessel
8	chr1:165825400-165831200	Enhancers	Fetal Intestine Large	intestine
9	chr1:165825400-165839800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:165825600-165831200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:165825600-165837800	Weak transcription	Fetal Brain Female	brain
12	chr1:165825800-165831400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:165826200-165831200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:165826400-165835000	Genic enhancers	Dnd41	blood
15	chr1:165826600-165831200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:165826600-165831200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:165826600-165840600	Weak transcription	NH-A	brain
18	chr1:165826800-165831200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:165827000-165834200	Weak transcription	Osteobl	bone
20	chr1:165827200-165831200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:165827600-165831200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:165827600-165831200	Weak transcription	GM12878-XiMat	blood
23	chr1:165827600-165831400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:165827800-165831200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:165827800-165831400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:165827800-165831600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:165827800-165831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:165827800-165834600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:165827800-165840600	Weak transcription	NHLF	lung
30	chr1:165828000-165831200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:165828000-165831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:165828000-165831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:165828000-165831200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:165828000-165831400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:165828000-165831600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:165828000-165831600	Weak transcription	Right Atrium	heart
37	chr1:165828000-165847200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:165828200-165831200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:165828200-165831200	Weak transcription	Psoas Muscle	Psoas
41	chr1:165828200-165832400	Weak transcription	A549	lung
42	chr1:165828200-165833000	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:165828200-165836800	Weak transcription	NHDF-Ad	bronchial
44	chr1:165828200-165843400	Weak transcription	NHEK	skin
45	chr1:165828400-165831200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:165828400-165834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:165828800-165831200	Weak transcription	Fetal Heart	heart
48	chr1:165829000-165831200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:165829000-165831800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:165829200-165831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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