Variant report

Variant	rs10798796
Chromosome Location	chr1:180936030-180936031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180935308..180936995-chr1:180940861..180942475,2	K562	blood:
2	chr1:180930846..180933775-chr1:180934126..180936251,3	K562	blood:
3	chr1:180931171..180933343-chr1:180934751..180937015,2	K562	blood:
4	chr1:180933034..180938105-chr1:180938834..180942220,6	MCF-7	breast:
5	chr1:180922995..180925077-chr1:180934530..180936126,2	K562	blood:
6	chr1:180933010..180935811-chr1:180935883..180937757,2	MCF-7	breast:
7	chr1:180934169..180936242-chr1:180943181..180945047,2	K562	blood:

Variant related genes	Relation type
ENSG00000232586	Chromatin interaction
ENSG00000270711	Chromatin interaction
ENSG00000234237	Chromatin interaction
ENSG00000251520	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10737352	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753230	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914143	0.90[YRI][hapmap]
rs10914145	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12022368	0.84[JPT][hapmap]
rs12145907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737062	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651079	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4652543	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59805843	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516077	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7525223	0.81[ASN][1000 genomes]
rs7537859	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7538053	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551728	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:180918600-180939800	Weak transcription	K562	blood
3	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:180922600-180949400	Strong transcription	Dnd41	blood
5	chr1:180923600-180944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
7	chr1:180923800-180938600	Weak transcription	Aorta	Aorta
8	chr1:180923800-180942800	Weak transcription	Fetal Lung	lung
9	chr1:180923800-180944800	Weak transcription	HUVEC	blood vessel
10	chr1:180923800-180944800	Weak transcription	NH-A	brain
11	chr1:180924000-180937800	Weak transcription	Right Ventricle	heart
12	chr1:180924000-180938400	Weak transcription	NHLF	lung
13	chr1:180924000-180938800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:180924000-180939000	Weak transcription	Colonic Mucosa	Colon
15	chr1:180924000-180939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180924000-180939400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:180924000-180940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:180924000-180940200	Weak transcription	Gastric	stomach
19	chr1:180924000-180941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:180924200-180936200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:180924200-180939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:180924200-180940000	Weak transcription	NHDF-Ad	bronchial
23	chr1:180924200-180941600	Weak transcription	Pancreas	Pancrea
24	chr1:180924200-180942000	Weak transcription	Liver	Liver
25	chr1:180924200-180943400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:180926000-180938200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:180926600-180937000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:180929600-180939200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:180930200-180939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:180930800-180939000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:180930800-180939200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:180931000-180937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:180931000-180938600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:180931000-180939000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:180931000-180939000	Weak transcription	A549	lung
38	chr1:180931200-180938400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:180931200-180939600	Weak transcription	HSMM	muscle
40	chr1:180931400-180938600	Weak transcription	Esophagus	oesophagus
41	chr1:180931400-180939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:180931600-180941800	Weak transcription	Placenta	Placenta
43	chr1:180931600-180950800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:180931800-180936200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:180931800-180938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:180932000-180937800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:180932000-180938000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:180932000-180938200	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:180932000-180938200	Weak transcription	Brain Substantia Nigra	brain
50	chr1:180932000-180940200	Weak transcription	Ovary	ovary

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