Variant report

Variant	rs3848163
Chromosome Location	chr15:74532036-74532037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74530832..74532774-chr15:74536942..74538994,3	MCF-7	breast:
2	chr15:74531000..74533096-chr15:74589038..74591277,2	MCF-7	breast:
3	chr15:74532021..74532873-chr15:74587892..74588777,3	MCF-7	breast:
4	chr15:74508820..74512386-chr15:74531796..74535260,3	MCF-7	breast:
5	chr15:74531319..74532959-chr15:74536975..74539724,2	MCF-7	breast:
6	chr15:74419524..74420135-chr15:74531852..74532605,3	MCF-7	breast:
7	chr15:74531065..74532057-chr7:5566416..5567064,2	Hela-S3	cervix:
8	chr15:74531244..74533706-chr15:74533938..74535590,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140481	Chromatin interaction
ENSG00000259264	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11858661	0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11858677	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2627305	0.80[ASN][1000 genomes]
rs351152	0.80[ASN][1000 genomes]
rs351154	0.81[ASN][1000 genomes]
rs351155	0.81[ASN][1000 genomes]
rs61327819	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62003670	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs876703	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv904349	chr15:74500105-74542686	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv904350	chr15:74500105-74548773	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3848163	CELF6	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74528600-74532600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:74528600-74536800	Weak transcription	Fetal Thymus	thymus
3	chr15:74528800-74532200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:74529000-74532200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:74529000-74532200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:74529000-74532600	Weak transcription	Fetal Intestine Large	intestine
7	chr15:74529200-74535400	Weak transcription	Fetal Kidney	kidney
8	chr15:74530800-74535800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:74531000-74532800	Enhancers	Hela-S3	cervix
10	chr15:74531000-74533000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr15:74531000-74533200	Enhancers	Fetal Stomach	stomach
12	chr15:74531000-74535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:74531000-74535600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:74531000-74536000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:74531000-74536000	Enhancers	Fetal Brain Male	brain
16	chr15:74531000-74536200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr15:74531200-74532800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr15:74531200-74532800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:74531200-74533000	Enhancers	HSMMtube	muscle
20	chr15:74531200-74533200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:74531200-74533400	Enhancers	NH-A	brain
22	chr15:74531200-74534600	Enhancers	Fetal Muscle Leg	muscle
23	chr15:74531200-74535200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:74531400-74532600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:74531400-74532600	Enhancers	GM12878-XiMat	blood
26	chr15:74531400-74532800	Enhancers	Ovary	ovary
27	chr15:74531400-74533600	Enhancers	Brain Hippocampus Middle	brain
28	chr15:74531400-74533800	Enhancers	Gastric	stomach
29	chr15:74531400-74533800	Enhancers	Lung	lung
30	chr15:74531400-74533800	Enhancers	Pancreas	Pancrea
31	chr15:74531400-74535600	Enhancers	Stomach Mucosa	stomach
32	chr15:74531400-74535800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:74531400-74536000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:74531400-74536000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:74531400-74536000	Enhancers	Brain Germinal Matrix	brain
36	chr15:74531400-74537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:74531600-74532600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:74531600-74532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:74531600-74533000	Enhancers	Brain Substantia Nigra	brain
40	chr15:74531600-74533000	Flanking Active TSS	A549	lung
41	chr15:74531600-74533000	Enhancers	HSMM	muscle
42	chr15:74531600-74533200	Enhancers	Osteobl	bone
43	chr15:74531600-74533400	Enhancers	Placenta	Placenta
44	chr15:74531600-74533800	Enhancers	Brain Angular Gyrus	brain
45	chr15:74531600-74535400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:74531600-74535600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:74531600-74535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:74531600-74535800	Enhancers	Fetal Brain Female	brain
49	chr15:74531600-74537000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:74531600-74538400	Enhancers	Spleen	Spleen

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