Variant report

Variant	rs72713841
Chromosome Location	chr1:162043544-162043545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:162034513..162046128-chr1:162124602..162140186,38	MCF-7	breast:
2	chr1:162041447..162043682-chr1:162147209..162149222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266144	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16849381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72713886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72713901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72713902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715906	1.00[EUR][1000 genomes]
rs72715962	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72715963	1.00[AFR][1000 genomes];1.00[EUR][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	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162041000-162044400	Weak transcription	Colonic Mucosa	Colon
2	chr1:162041000-162047400	Weak transcription	Right Ventricle	heart
3	chr1:162041200-162044600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:162041200-162047600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:162041200-162050200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:162041400-162044000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:162041400-162044200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:162041400-162044400	Weak transcription	Aorta	Aorta
9	chr1:162041400-162063600	Weak transcription	Fetal Stomach	stomach
10	chr1:162041600-162044000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:162041600-162045200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:162041800-162047200	Weak transcription	Fetal Heart	heart
13	chr1:162042000-162043800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:162042400-162047400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:162042400-162049200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:162042400-162050200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:162042600-162043600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:162042600-162043600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:162042600-162047400	Weak transcription	Gastric	stomach
20	chr1:162042600-162050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:162042600-162051000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:162042600-162052000	Weak transcription	Fetal Kidney	kidney
23	chr1:162042800-162043600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:162042800-162043800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:162042800-162043800	Enhancers	Liver	Liver
26	chr1:162042800-162044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:162042800-162044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:162042800-162044200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:162042800-162044200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:162042800-162044400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:162042800-162044600	Weak transcription	Pancreas	Pancrea
32	chr1:162043000-162043600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:162043000-162044000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:162043000-162044200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:162043000-162044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:162043000-162044200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:162043000-162044200	Weak transcription	Hela-S3	cervix
38	chr1:162043000-162044400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:162043000-162044400	Weak transcription	Stomach Mucosa	stomach
40	chr1:162043000-162044600	Weak transcription	HepG2	liver
41	chr1:162043000-162047600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:162043200-162044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:162043200-162047400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:162043200-162047400	Weak transcription	Fetal Brain Male	brain
45	chr1:162043400-162044000	Weak transcription	Fetal Brain Female	brain

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