Variant report

Variant	rs12441028
Chromosome Location	chr15:72457462-72457463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72454028..72456200-chr15:72456374..72458643,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175318	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12438558	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12438985	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12439301	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441217	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441866	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12442820	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956382	1.00[ASN][1000 genomes]
rs16956384	1.00[ASN][1000 genomes]
rs16956391	1.00[ASN][1000 genomes]
rs16956450	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956519	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1842666	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34850275	1.00[ASN][1000 genomes]
rs35886932	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8192349	0.83[AMR][1000 genomes]
rs8192419	0.83[AMR][1000 genomes]
rs8192422	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription 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 target site	173 gene(s)	inside rSNPs	diseases
6	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72448400-72458800	Weak transcription	Spleen	Spleen
2	chr15:72448400-72460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:72448600-72458600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:72448600-72460800	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:72448600-72460800	Weak transcription	Right Atrium	heart
6	chr15:72448800-72459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:72448800-72460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:72448800-72462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:72449000-72459200	Weak transcription	HMEC	breast
10	chr15:72449000-72459800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:72449200-72460400	Weak transcription	Fetal Kidney	kidney
12	chr15:72449200-72462200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:72453000-72459800	Strong transcription	Fetal Intestine Small	intestine
14	chr15:72453000-72460000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:72454400-72471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72454600-72460000	Weak transcription	Fetal Intestine Large	intestine
17	chr15:72454600-72460600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:72455200-72458400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:72455200-72458800	Weak transcription	Fetal Lung	lung
20	chr15:72455200-72459400	Weak transcription	Fetal Stomach	stomach
21	chr15:72455200-72460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:72455200-72460000	Weak transcription	Lung	lung
23	chr15:72455200-72460400	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:72456400-72460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:72456600-72460000	Weak transcription	Fetal Brain Male	brain
26	chr15:72456600-72460600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:72456600-72460600	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:72456600-72461000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:72456800-72458600	Strong transcription	Placenta	Placenta
30	chr15:72456800-72460400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:72456800-72460400	Weak transcription	Fetal Brain Female	brain
32	chr15:72457000-72457800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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