Variant report

Variant	rs72671963
Chromosome Location	chr1:45126749-45126750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56257701	0.99[EUR][1000 genomes]
rs6667593	0.99[EUR][1000 genomes]
rs72671972	0.98[EUR][1000 genomes]
rs72671978	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45104000-45138200	Weak transcription	Fetal Brain Male	brain
2	chr1:45111200-45128000	Weak transcription	Right Atrium	heart
3	chr1:45114600-45130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:45115200-45137800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:45115800-45138000	Weak transcription	NHDF-Ad	bronchial
6	chr1:45116000-45130000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:45116600-45127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:45117200-45127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:45117200-45130200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:45117200-45137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:45117200-45138600	Weak transcription	Aorta	Aorta
12	chr1:45117400-45129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:45117400-45130200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:45117400-45130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:45117400-45130200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:45117400-45138000	Weak transcription	Left Ventricle	heart
17	chr1:45117600-45130200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:45117800-45128000	Weak transcription	Colonic Mucosa	Colon
19	chr1:45118200-45130200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:45118400-45127600	Weak transcription	Thymus	Thymus
21	chr1:45118400-45129400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:45118400-45130000	Weak transcription	GM12878-XiMat	blood
23	chr1:45118400-45130200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:45118600-45138600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:45119000-45128800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:45119200-45126800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:45119200-45139200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:45119800-45138000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:45120200-45129200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:45120400-45130200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:45120600-45127400	Weak transcription	Placenta	Placenta
32	chr1:45120800-45126800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:45120800-45127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:45120800-45130400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:45120800-45134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:45121000-45129200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:45121000-45137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:45121000-45138600	Weak transcription	Gastric	stomach
39	chr1:45121200-45126800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:45121200-45130400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:45123400-45132200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:45124800-45126800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:45124800-45129200	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:45125000-45128000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:45125200-45127000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:45125200-45128800	Enhancers	Liver	Liver
47	chr1:45125400-45127000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:45125400-45127400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:45125400-45127400	Weak transcription	Spleen	Spleen
50	chr1:45125400-45129000	Enhancers	Fetal Muscle Leg	muscle

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