Variant report

Variant	rs1648348
Chromosome Location	chr15:50474766-50474767
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50473541..50475661-chr15:50496786..50499425,2	MCF-7	breast:
2	chr15:50473948..50476834-chr15:50511893..50514231,2	MCF-7	breast:
3	chr15:50471646..50476620-chr15:50646050..50650091,9	MCF-7	breast:
4	chr15:50473235..50476211-chr15:50645559..50648841,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200605	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000244879	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12164938	0.84[EUR][1000 genomes]
rs1365505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1549520	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs1648350	0.93[ASN][1000 genomes]
rs1797313	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1797317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1896171	0.81[AMR][1000 genomes]
rs2052759	0.82[JPT][hapmap];0.83[AFR][1000 genomes]
rs2263561	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2554887	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28448616	0.87[AFR][1000 genomes]
rs4238381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4775869	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7176501	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7179025	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs933856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9745136	0.80[AFR][1000 genomes]
rs9788756	0.91[AFR][1000 genomes];0.98[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer 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
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS 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
5	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50473600-50475600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:50473800-50475000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:50473800-50475000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr15:50473800-50475200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr15:50473800-50475600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:50473800-50475800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:50474000-50474800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:50474000-50474800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr15:50474000-50474800	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr15:50474000-50474800	Bivalent/Poised TSS	NHLF	lung
11	chr15:50474000-50475000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:50474000-50475000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr15:50474000-50475000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:50474000-50475000	Active TSS	Brain Angular Gyrus	brain
15	chr15:50474000-50475000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:50474000-50475000	Bivalent/Poised TSS	HSMM	muscle
17	chr15:50474000-50475200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:50474000-50475200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:50474000-50475200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:50474000-50475200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:50474000-50475400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr15:50474000-50475400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr15:50474000-50475400	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr15:50474000-50475600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:50474000-50475800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr15:50474000-50476000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Kidney	kidney
32	chr15:50474000-50476000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr15:50474000-50476200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:50474200-50474800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:50474200-50474800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:50474200-50474800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr15:50474200-50474800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr15:50474200-50474800	Flanking Active TSS	Colonic Mucosa	Colon
39	chr15:50474200-50474800	Active TSS	Duodenum Mucosa	Duodenum
40	chr15:50474200-50474800	Active TSS	Gastric	stomach
41	chr15:50474200-50474800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr15:50474200-50475000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:50474200-50475000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:50474200-50475000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:50474200-50475000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:50474200-50475000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:50474200-50475000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr15:50474200-50475000	Flanking Active TSS	Ovary	ovary
49	chr15:50474200-50475000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
50	chr15:50474200-50475000	Active TSS	Rectal Smooth Muscle	rectum

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