Variant report

Variant	rs72737331
Chromosome Location	chr1:216773887-216773888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216772875..216776991-chr1:216777748..216786237,10	MCF-7	breast:
2	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:
3	chr1:216773881..216776068-chr2:18058093..18060883,2	MCF-7	breast:
4	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:
5	chr1:216527475..216530440-chr1:216773266..216776037,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170745	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10495030	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11117629	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117630	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572723	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572747	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572764	0.83[EUR][1000 genomes]
rs11572766	0.83[EUR][1000 genomes]
rs11572768	0.83[EUR][1000 genomes]
rs11572775	0.83[EUR][1000 genomes]
rs11577585	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128345	1.00[ASN][1000 genomes]
rs1498284	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611906	0.83[EUR][1000 genomes]
rs17669321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17671115	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846227	0.83[EUR][1000 genomes]
rs1976331	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152472	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173372	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2789727	1.00[ASN][1000 genomes]
rs2789728	1.00[ASN][1000 genomes]
rs35508539	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55635948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735199	0.83[EUR][1000 genomes]
rs72737309	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737313	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737323	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737329	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737332	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945452	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216770000-216774000	Weak transcription	Left Ventricle	heart
3	chr1:216771600-216774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:216773200-216774000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:216773200-216774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216773200-216774000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:216773200-216774000	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:216773400-216774000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:216773400-216774000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:216773400-216774000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:216773400-216774000	Enhancers	Brain Hippocampus Middle	brain
12	chr1:216773600-216774000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:216773600-216774000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:216773600-216774000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:216773600-216774000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:216773600-216774000	Enhancers	Adipose Nuclei	Adipose
17	chr1:216773600-216774000	Enhancers	Fetal Kidney	kidney
18	chr1:216773600-216774000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:216773600-216774000	Enhancers	HepG2	liver
20	chr1:216773600-216774200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:216773600-216774200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:216773600-216774200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:216773600-216775600	Enhancers	Fetal Heart	heart
24	chr1:216773800-216774000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:216773800-216774000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr1:216773800-216774000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:216773800-216774000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:216773800-216774000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:216773800-216774000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:216773800-216774000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:216773800-216774000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:216773800-216774000	Active TSS	Brain Germinal Matrix	brain
33	chr1:216773800-216774000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:216773800-216774000	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr1:216773800-216774000	Enhancers	Colon Smooth Muscle	Colon
36	chr1:216773800-216774000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr1:216773800-216774000	Weak transcription	Fetal Brain Male	brain
38	chr1:216773800-216774000	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr1:216773800-216774000	Weak transcription	Right Ventricle	heart
40	chr1:216773800-216774000	Enhancers	HMEC	breast
41	chr1:216773800-216774000	Active TSS	HUVEC	blood vessel
42	chr1:216773800-216774000	Enhancers	NHEK	skin
43	chr1:216773800-216774000	Enhancers	NHLF	lung
44	chr1:216773800-216774200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:216773800-216774200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:216773800-216774200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:216773800-216774200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:216773800-216774200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:216773800-216774200	Flanking Active TSS	Osteobl	bone
50	chr1:216773800-216774400	Flanking Active TSS	Fetal Muscle Leg	muscle

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