Variant report

Variant	rs6720817
Chromosome Location	chr2:73297007-73297008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73218132..73222464-chr2:73296356..73300991,4	K562	blood:
2	chr2:71221874..71223413-chr2:73296687..73299396,2	K562	blood:
3	chr2:73296244..73298765-chr2:73460240..73462407,3	MCF-7	breast:
4	chr2:73296621..73300316-chr2:73309682..73312950,4	K562	blood:
5	chr2:73296300..73298115-chr2:73338664..73340371,2	K562	blood:
6	chr2:73291484..73293366-chr2:73295204..73297283,3	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000258881	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000144043	Chromatin interaction
ENSG00000272702	Chromatin interaction
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10167566	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10174548	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10180720	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10180995	0.96[ASN][1000 genomes]
rs10190861	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10203608	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1046186	0.99[ASN][1000 genomes]
rs10865396	0.82[ASN][1000 genomes]
rs11126389	0.82[ASN][1000 genomes]
rs11686557	0.88[ASN][1000 genomes]
rs11885522	0.92[ASN][1000 genomes]
rs12104691	0.96[ASN][1000 genomes]
rs12614059	0.85[ASN][1000 genomes]
rs13018842	0.82[ASN][1000 genomes]
rs13385994	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13391532	0.92[ASN][1000 genomes]
rs13393567	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13400920	0.89[ASN][1000 genomes]
rs13400948	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13403757	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13403781	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13407719	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13416407	0.96[ASN][1000 genomes]
rs13427947	0.99[ASN][1000 genomes]
rs1430349	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1430350	0.92[ASN][1000 genomes]
rs1430351	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17008631	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1864488	0.90[ASN][1000 genomes]
rs1992133	0.99[ASN][1000 genomes]
rs3813222	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3813223	0.90[ASN][1000 genomes]
rs3901273	0.95[ASN][1000 genomes]
rs4591365	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55894650	0.93[ASN][1000 genomes]
rs57536428	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57701326	0.92[ASN][1000 genomes]
rs57726945	0.88[ASN][1000 genomes]
rs57937746	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6546800	0.94[ASN][1000 genomes]
rs6546801	0.90[ASN][1000 genomes]
rs6710739	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6710755	0.90[ASN][1000 genomes]
rs6712925	0.94[ASN][1000 genomes]
rs6727919	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6729266	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736153	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6749237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754858	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs727470	0.95[ASN][1000 genomes]
rs727471	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7557173	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7559074	0.92[ASN][1000 genomes]
rs7559340	0.95[ASN][1000 genomes]
rs7566904	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7593322	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599657	0.92[ASN][1000 genomes]
rs7602651	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs891432	0.93[ASN][1000 genomes]
rs891433	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9309471	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73291800-73297600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:73295200-73297400	Flanking Active TSS	Liver	Liver
3	chr2:73295800-73297200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:73295800-73297200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:73295800-73297400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:73296000-73297200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:73296000-73297400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:73296000-73297400	Enhancers	Small Intestine	intestine
9	chr2:73296000-73297600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr2:73296200-73297200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:73296200-73297200	Enhancers	Aorta	Aorta
12	chr2:73296200-73297200	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr2:73296200-73297200	Flanking Active TSS	A549	lung
14	chr2:73296200-73297400	Flanking Active TSS	NHLF	lung
15	chr2:73296200-73297600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:73296200-73297600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:73296200-73297600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr2:73296200-73297600	Flanking Active TSS	Dnd41	blood
19	chr2:73296200-73299600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr2:73296400-73297200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:73296400-73297200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:73296400-73297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:73296400-73297200	Enhancers	Stomach Mucosa	stomach
24	chr2:73296400-73297400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:73296400-73297400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:73296400-73297400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:73296400-73297400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:73296400-73297400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:73296400-73297400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr2:73296400-73297400	Flanking Active TSS	Fetal Heart	heart
31	chr2:73296400-73297400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:73296400-73297400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:73296400-73297400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:73296400-73297400	Enhancers	Spleen	Spleen
35	chr2:73296400-73297400	Flanking Active TSS	Hela-S3	cervix
36	chr2:73296400-73297600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:73296400-73297600	Flanking Active TSS	Fetal Brain Female	brain
38	chr2:73296400-73297600	Flanking Active TSS	NH-A	brain
39	chr2:73296400-73297600	Flanking Active TSS	NHEK	skin
40	chr2:73296400-73297800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr2:73296600-73297200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr2:73296600-73297200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:73296600-73297200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:73296600-73297200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:73296600-73297200	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr2:73296600-73297200	Enhancers	Placenta	Placenta
47	chr2:73296600-73297200	Enhancers	Ovary	ovary
48	chr2:73296600-73297400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:73296600-73297400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:73296600-73297400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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