Variant report

Variant	rs382048
Chromosome Location	chr15:93207980-93207981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93203594..93207995-chr15:93208345..93212405,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs285762	0.80[CEU][hapmap]
rs435171	0.80[CEU][hapmap]

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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs382048	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93199600-93210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93204000-93210600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:93204600-93208000	Weak transcription	Placenta	Placenta
4	chr15:93205400-93208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:93207000-93208000	Enhancers	Stomach Smooth Muscle	stomach
6	chr15:93207000-93208400	Enhancers	Ovary	ovary
7	chr15:93207000-93208400	Enhancers	Right Atrium	heart
8	chr15:93207000-93208400	Enhancers	GM12878-XiMat	blood
9	chr15:93207000-93208600	Enhancers	Fetal Thymus	thymus
10	chr15:93207200-93208400	Enhancers	Left Ventricle	heart
11	chr15:93207200-93210200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:93207200-93211800	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:93207200-93213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:93207400-93208200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr15:93207400-93208600	Enhancers	Right Ventricle	heart
16	chr15:93207400-93210000	Enhancers	A549	lung
17	chr15:93207600-93208200	Enhancers	Fetal Lung	lung
18	chr15:93207600-93208200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:93207600-93208200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:93207600-93208400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:93207600-93208400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:93207600-93208600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr15:93207600-93208600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr15:93207600-93208600	Enhancers	Brain Anterior Caudate	brain
25	chr15:93207600-93208800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr15:93207600-93209200	Enhancers	Brain Angular Gyrus	brain
27	chr15:93207600-93210200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:93207600-93211200	Enhancers	Pancreas	Pancrea
29	chr15:93207600-93211800	Enhancers	Fetal Muscle Leg	muscle
30	chr15:93207800-93208200	Weak transcription	Stomach Mucosa	stomach
31	chr15:93207800-93208400	Enhancers	Colon Smooth Muscle	Colon
32	chr15:93207800-93208400	Enhancers	Fetal Intestine Large	intestine
33	chr15:93207800-93208400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:93207800-93208600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr15:93207800-93208600	Enhancers	Psoas Muscle	Psoas
36	chr15:93207800-93208800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:93207800-93209400	Enhancers	Fetal Brain Male	brain
38	chr15:93207800-93210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:93207800-93211800	Enhancers	Liver	Liver
40	chr15:93207800-93211800	Enhancers	Fetal Stomach	stomach

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