Variant report

Variant	rs818659
Chromosome Location	chr2:180870893-180870894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180870527..180872087-chr2:181555247..181557318,2	K562	blood:
2	chr2:180868512..180871187-chr2:180902813..180905505,2	MCF-7	breast:
3	chr2:180650807..180652481-chr2:180868354..180871032,2	K562	blood:
4	chr2:180869542..180871698-chr2:180887841..180889439,2	K562	blood:

Variant related genes	Relation type
ENSG00000225258	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046356	0.88[ASN][1000 genomes]
rs10497555	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613483	0.86[ASN][1000 genomes]
rs12618422	0.82[ASN][1000 genomes]
rs12621365	0.82[ASN][1000 genomes]
rs12623020	0.82[ASN][1000 genomes]
rs12693216	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823586	0.88[ASN][1000 genomes]
rs16867114	0.88[ASN][1000 genomes]
rs16867119	0.87[ASN][1000 genomes]
rs16867125	0.90[ASN][1000 genomes]
rs16867133	0.92[ASN][1000 genomes]
rs16867136	0.97[ASN][1000 genomes]
rs16867140	0.96[ASN][1000 genomes]
rs259808	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs262279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738943	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768837	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768839	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3845695	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3845697	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3845702	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3907347	0.86[ASN][1000 genomes]
rs3912257	0.93[ASN][1000 genomes]
rs3914458	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56213876	0.96[ASN][1000 genomes]
rs6433822	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6726846	0.82[ASN][1000 genomes]
rs72958832	0.82[ASN][1000 genomes]
rs72958838	0.81[ASN][1000 genomes]
rs72958887	0.88[ASN][1000 genomes]
rs72960663	0.90[ASN][1000 genomes]
rs72960669	0.91[ASN][1000 genomes]
rs72960671	0.91[ASN][1000 genomes]
rs72960679	0.89[ASN][1000 genomes]
rs9989852	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv834473	chr2:180864256-181030940	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:180819000-180871000	Weak transcription	Esophagus	oesophagus
3	chr2:180829600-180871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:180830800-180871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:180857200-180871000	Weak transcription	Lung	lung
6	chr2:180858200-180871000	Weak transcription	Placenta	Placenta
7	chr2:180860800-180871000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:180866000-180871000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:180867200-180871000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:180869000-180871000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:180869600-180871000	Enhancers	Gastric	stomach
12	chr2:180869800-180871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:180870000-180871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:180870000-180871000	Enhancers	Left Ventricle	heart
15	chr2:180870000-180871200	Flanking Active TSS	Dnd41	blood
16	chr2:180870000-180872600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:180870200-180871000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:180870200-180871000	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:180870200-180871000	Weak transcription	Pancreas	Pancrea
20	chr2:180870400-180871000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:180870400-180871000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:180870400-180871000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:180870400-180871000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:180870400-180871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:180870400-180871000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:180870400-180871000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr2:180870400-180871000	Flanking Active TSS	Hela-S3	cervix
28	chr2:180870400-180871000	Flanking Active TSS	HepG2	liver
29	chr2:180870400-180871000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:180870400-180871200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:180870400-180871200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:180870400-180871200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr2:180870400-180871200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr2:180870400-180871200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr2:180870400-180871200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:180870400-180871200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr2:180870400-180871200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr2:180870400-180871200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr2:180870400-180871200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:180870400-180871200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr2:180870400-180871200	Flanking Active TSS	HUVEC	blood vessel
42	chr2:180870400-180871200	Flanking Active TSS	NHEK	skin
43	chr2:180870400-180871400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:180870400-180871400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:180870400-180871400	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr2:180870400-180871400	Flanking Active TSS	Fetal Brain Female	brain
47	chr2:180870400-180871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:180870400-180872200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:180870600-180871000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:180870600-180871000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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