Variant report

Variant	rs4657486
Chromosome Location	chr1:165835194-165835195
allele	A/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	chr1:165796425..165798673-chr1:165831080..165836072,5	K562	blood:
3	chr1:165825199..165827895-chr1:165834221..165836941,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10494448	0.90[EUR][1000 genomes]
rs10918297	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10918301	0.84[EUR][1000 genomes]
rs12080800	0.88[CEU][hapmap];0.94[GIH][hapmap];0.83[EUR][1000 genomes]
rs12121204	0.84[EUR][1000 genomes]
rs12125493	0.88[CEU][hapmap];0.94[GIH][hapmap];0.83[EUR][1000 genomes]
rs12562047	0.84[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs16851949	0.84[JPT][hapmap]
rs2225980	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs3762365	0.80[CEU][hapmap];0.92[GIH][hapmap]
rs3790659	0.89[GIH][hapmap]
rs61802911	0.85[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165823800-165838000	Weak transcription	Fetal Lung	lung
2	chr1:165823800-165840200	Weak transcription	HUVEC	blood vessel
3	chr1:165825400-165839800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:165825600-165837800	Weak transcription	Fetal Brain Female	brain
5	chr1:165826600-165840600	Weak transcription	NH-A	brain
6	chr1:165827800-165840600	Weak transcription	NHLF	lung
7	chr1:165828000-165847200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:165828200-165836800	Weak transcription	NHDF-Ad	bronchial
10	chr1:165828200-165843400	Weak transcription	NHEK	skin
11	chr1:165829200-165838400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:165829200-165840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:165829400-165843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:165829600-165840200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:165829600-165840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:165829600-165840600	Weak transcription	Esophagus	oesophagus
17	chr1:165831400-165837400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:165831600-165837000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:165831600-165838200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:165831600-165843000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:165831800-165837600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:165832000-165840200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:165832000-165840600	Weak transcription	Left Ventricle	heart
24	chr1:165832400-165840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:165832400-165840600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:165832400-165853400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:165832600-165835200	Weak transcription	Lung	lung
28	chr1:165832600-165837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:165832600-165838400	Weak transcription	HSMM	muscle
30	chr1:165832800-165837800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:165832800-165838200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:165832800-165838200	Weak transcription	HSMMtube	muscle
33	chr1:165832800-165840000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:165832800-165840400	Weak transcription	HMEC	breast
35	chr1:165832800-165852800	Weak transcription	Psoas Muscle	Psoas
36	chr1:165833000-165836000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:165833000-165837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:165833000-165837800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:165833000-165839800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:165833000-165840600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:165833000-165849000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:165833200-165851000	Weak transcription	Hela-S3	cervix
43	chr1:165834000-165835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:165834000-165835400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:165834000-165835400	Strong transcription	Aorta	Aorta
46	chr1:165834000-165836200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:165834200-165835200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:165834200-165835200	Strong transcription	K562	blood
49	chr1:165834200-165835400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:165834200-165835400	Strong transcription	A549	lung

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