Variant report

Variant	rs9972374
Chromosome Location	chr15:93182422-93182423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93180068..93182597-chr15:93441905..93444737,2	MCF-7	breast:
2	chr15:93180406..93183251-chr15:93430441..93434489,3	MCF-7	breast:
3	chr15:93181102..93183442-chr15:93428358..93430400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173575	Chromatin interaction
ENSG00000272888	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11074092	0.87[EUR][1000 genomes]
rs12050771	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1496725	0.88[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs1496727	0.88[CEU][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs16947139	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17704317	0.92[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2173059	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2173061	0.91[EUR][1000 genomes]
rs285760	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs285761	0.88[CEU][hapmap];0.88[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285770	0.82[CHB][hapmap]
rs3743360	0.82[CHB][hapmap]
rs3743361	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3743362	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs437661	0.94[CHB][hapmap]
rs57768803	0.87[EUR][1000 genomes]
rs8037891	0.96[CEU][hapmap];0.88[TSI][hapmap]

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	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	esv1808537	chr15:93146057-93191935	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
rs9972374	FAM174B	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93171000-93197400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:93176800-93182600	Enhancers	Gastric	stomach
3	chr15:93177000-93182600	Enhancers	Fetal Muscle Leg	muscle
4	chr15:93177200-93183000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:93177600-93182600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:93178000-93188400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:93178400-93182600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:93178400-93182800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr15:93178800-93187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:93179200-93182600	Enhancers	Left Ventricle	heart
11	chr15:93179600-93182600	Enhancers	Ovary	ovary
12	chr15:93179600-93183000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:93179800-93182600	Enhancers	Esophagus	oesophagus
14	chr15:93179800-93182600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr15:93179800-93183000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:93180200-93182600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr15:93180200-93182800	Enhancers	Brain Angular Gyrus	brain
18	chr15:93180200-93187200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:93180400-93182600	Enhancers	Fetal Kidney	kidney
20	chr15:93180400-93183000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:93180800-93182600	Enhancers	GM12878-XiMat	blood
22	chr15:93181200-93187800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:93181400-93182800	Enhancers	Liver	Liver
24	chr15:93181600-93182600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:93181600-93182600	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:93181800-93182600	Genic enhancers	Fetal Intestine Small	intestine
27	chr15:93181800-93183000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:93181800-93187000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:93182000-93183000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr15:93182000-93183200	ZNF genes & repeats	Lung	lung
31	chr15:93182000-93187000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:93182000-93197800	Weak transcription	Small Intestine	intestine
33	chr15:93182200-93182600	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr15:93182200-93183200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:93182200-93183200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:93182200-93186400	Weak transcription	Placenta	Placenta
37	chr15:93182200-93187400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:93182400-93182800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr15:93182400-93183200	Enhancers	Pancreas	Pancrea
40	chr15:93182400-93183400	Enhancers	Stomach Mucosa	stomach
41	chr15:93182400-93186800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:93182400-93187400	Weak transcription	Right Atrium	heart
43	chr15:93182400-93188400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:93182400-93188400	Weak transcription	Fetal Lung	lung
45	chr15:93182400-93190600	Weak transcription	Psoas Muscle	Psoas
46	chr15:93182400-93191200	Weak transcription	Stomach Smooth Muscle	stomach

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