Variant report

Variant	rs72707419
Chromosome Location	chr1:180831535-180831536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:180831481-180831749	Hela-S3	cervix:	n/a	chr1:180831602-180831613
2	CEBPB	chr1:180831444-180831765	IMR90	lung:	n/a	chr1:180831602-180831613
3	RAD21	chr1:180831197-180833041	SK-N-SH	brain:	n/a	chr1:180832500-180832519 chr1:180831482-180831494 chr1:180832505-180832524

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180502691..180503271-chr1:180831297..180831977,2	K562	blood:
2	chr1:180471165..180472700-chr1:180830058..180831600,2	K562	blood:

Variant related genes	Relation type
XPR1	TF binding region
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11487432	0.81[EUR][1000 genomes]
rs12089469	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17301405	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301581	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17301602	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17301762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17302040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17302075	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17302102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17373425	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17373501	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373660	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17374151	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3845409	0.83[AMR][1000 genomes]
rs3908047	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55960112	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59077359	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809308	0.92[EUR][1000 genomes]
rs61809311	0.92[EUR][1000 genomes]
rs61809312	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809314	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809317	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809334	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61809342	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809345	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809347	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809350	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809351	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809352	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809353	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809354	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809355	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809356	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809357	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809358	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811160	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811191	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811192	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811193	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811197	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811202	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811204	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811221	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811223	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811227	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61811245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811248	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6664966	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6674012	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6681637	0.84[EUR][1000 genomes]
rs6697299	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72707494	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72721001	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723004	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723006	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723010	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72723014	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72723023	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723026	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723027	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723035	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9725163	1.00[AMR][1000 genomes];0.86[EUR][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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
5	chr1:180796400-180851000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:180796800-180831600	Weak transcription	A549	lung
7	chr1:180802600-180833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:180802600-180834600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:180803600-180843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:180804800-180842800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:180805800-180835000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
13	chr1:180807200-180832800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:180812200-180867000	Weak transcription	Ovary	ovary
15	chr1:180812600-180835000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:180818600-180833200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:180819200-180851000	Weak transcription	Fetal Brain Male	brain
18	chr1:180821200-180842200	Weak transcription	Primary B cells from cord blood	blood
19	chr1:180822000-180833800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:180822000-180842200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:180822000-180862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:180822400-180833000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:180822800-180862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:180823000-180854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:180823200-180832800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:180823200-180832800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:180823400-180843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:180823600-180833200	Weak transcription	Dnd41	blood
29	chr1:180823600-180835000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:180823600-180847800	Weak transcription	Primary T cells from cord blood	blood
31	chr1:180823600-180860000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:180823800-180832200	Weak transcription	Fetal Stomach	stomach
33	chr1:180823800-180833200	Weak transcription	Adipose Nuclei	Adipose
34	chr1:180823800-180833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:180823800-180851000	Weak transcription	Fetal Kidney	kidney
36	chr1:180823800-180851400	Weak transcription	Pancreas	Pancrea
37	chr1:180823800-180862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:180824000-180832200	Weak transcription	Fetal Heart	heart
39	chr1:180824000-180832200	Weak transcription	NH-A	brain
40	chr1:180824000-180833000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:180824000-180835000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:180824000-180848000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:180824000-180867600	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
45	chr1:180824200-180831600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:180824200-180832200	Weak transcription	HUVEC	blood vessel
47	chr1:180824200-180851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:180825200-180834200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:180825200-180835000	Weak transcription	Left Ventricle	heart
50	chr1:180825200-180841800	Weak transcription	K562	blood

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