Variant report

Variant	rs2037348
Chromosome Location	chr15:78653563-78653564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78651423..78654019-chr15:78662111..78664837,3	MCF-7	breast:
2	chr15:78647379..78649715-chr15:78651896..78653984,2	K562	blood:
3	chr15:78638652..78641171-chr15:78652494..78655428,2	MCF-7	breast:
4	chr15:78644250..78646860-chr15:78652765..78656018,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166426	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11633242	1.00[JPT][hapmap]
rs12443034	0.96[ASN][1000 genomes]
rs16969738	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16969741	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs8042502	0.93[ASN][1000 genomes]
rs8043303	0.98[ASN][1000 genomes]
rs9920822	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1052910	chr15:78608637-78707049	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78645000-78658200	Weak transcription	Right Atrium	heart
2	chr15:78650400-78658800	Enhancers	Fetal Muscle Leg	muscle
3	chr15:78651400-78653600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:78651600-78655600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:78651600-78666600	Weak transcription	Pancreas	Pancrea
6	chr15:78652000-78654400	Enhancers	Colon Smooth Muscle	Colon
7	chr15:78652000-78660400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:78652200-78654000	Enhancers	Stomach Smooth Muscle	stomach
9	chr15:78652200-78654600	Enhancers	Fetal Stomach	stomach
10	chr15:78652200-78654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:78652600-78654000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr15:78652600-78654400	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:78652600-78655200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:78653000-78653600	Enhancers	Fetal Heart	heart
15	chr15:78653000-78653600	Enhancers	Right Ventricle	heart
16	chr15:78653000-78654000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:78653200-78653600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:78653200-78653600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:78653200-78653600	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:78653200-78653800	Enhancers	Brain Anterior Caudate	brain
21	chr15:78653200-78654000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:78653400-78653600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr15:78653400-78653600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr15:78653400-78654400	Weak transcription	Spleen	Spleen
25	chr15:78653400-78654400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:78653400-78655000	Weak transcription	Placenta	Placenta
27	chr15:78653400-78658200	Weak transcription	Left Ventricle	heart
28	chr15:78653400-78658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:78653400-78660400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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