Variant report

Variant	rs72692715
Chromosome Location	chr1:151519352-151519353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151518255..151520470-chr1:151528849..151531247,2	MCF-7	breast:
2	chr1:151518630..151520620-chr1:151521717..151523479,2	K562	blood:
3	chr1:151518375..151521328-chr1:151559247..151561666,2	MCF-7	breast:
4	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
5	chr1:151430847..151432842-chr1:151517384..151519921,3	MCF-7	breast:
6	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
7	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
8	chr1:151431169..151432846-chr1:151517361..151519624,3	MCF-7	breast:
9	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
10	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
11	chr1:151519173..151521651-chr1:151523857..151526108,3	MCF-7	breast:
12	chr1:151518156..151521130-chr1:151964781..151966696,2	MCF-7	breast:
13	1:151171193-151178589..1:151516085-151535167	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000225556	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000201134	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000223861	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11204844	0.85[EUR][1000 genomes]
rs16833376	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17640579	0.84[EUR][1000 genomes]
rs17640598	0.83[EUR][1000 genomes]
rs35342887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55840963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686193	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72692719	0.80[EUR][1000 genomes]
rs72692721	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151513800-151519400	Weak transcription	Left Ventricle	heart
2	chr1:151514000-151519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151514000-151519400	Weak transcription	HUVEC	blood vessel
4	chr1:151514200-151519400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:151514200-151519400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:151514200-151519400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151514200-151519600	Weak transcription	Fetal Heart	heart
8	chr1:151514200-151519600	Weak transcription	Ovary	ovary
9	chr1:151514400-151519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:151514400-151519600	Weak transcription	Psoas Muscle	Psoas
11	chr1:151514400-151519800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
14	chr1:151514600-151519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:151514600-151519400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151514600-151519400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:151514600-151519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:151514600-151519800	Weak transcription	Fetal Stomach	stomach
19	chr1:151515400-151519400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:151515400-151519400	Weak transcription	Small Intestine	intestine
21	chr1:151515400-151519400	Weak transcription	Stomach Mucosa	stomach
22	chr1:151515400-151519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:151515400-151523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:151515600-151519400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:151515600-151519400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:151515600-151519400	Weak transcription	Esophagus	oesophagus
27	chr1:151515600-151519400	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:151515600-151519400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:151515600-151519400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:151515600-151519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:151515600-151519400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:151515600-151519600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:151515600-151519600	Weak transcription	Colonic Mucosa	Colon
34	chr1:151515600-151519600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:151515600-151519800	Weak transcription	Aorta	Aorta
36	chr1:151515600-151519800	Weak transcription	Fetal Brain Female	brain
37	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:151515800-151519400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:151515800-151519400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:151515800-151519400	Weak transcription	HMEC	breast
41	chr1:151516400-151519400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:151516400-151519400	Weak transcription	Pancreas	Pancrea
43	chr1:151516400-151519400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:151516400-151519600	Weak transcription	Gastric	stomach
45	chr1:151516400-151519600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:151516600-151519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:151516600-151519600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:151516600-151519800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:151517400-151519400	Enhancers	Hela-S3	cervix
50	chr1:151517400-151522200	Enhancers	Placenta Amnion	Placenta Amnion

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