Variant report

Variant	rs678970
Chromosome Location	chr15:41116736-41116737
allele	A/C
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	chr15:41115243..41117914-chr15:41164930..41167399,2	MCF-7	breast:
2	chr15:41114945..41117610-chr15:41148637..41150372,2	MCF-7	breast:
3	chr15:41114473..41117558-chr15:41134964..41137659,4	MCF-7	breast:
4	chr15:41116472..41118096-chr15:41132538..41135247,2	K562	blood:
5	chr15:41106243..41108618-chr15:41116351..41118366,3	MCF-7	breast:
6	chr15:41116376..41117898-chr15:41128674..41130179,2	MCF-7	breast:
7	chr15:41116410..41118480-chr15:41162646..41165359,2	MCF-7	breast:
8	chr15:41115426..41119374-chr15:41121588..41125494,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104140	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166145	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs55734356	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs604250	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631077	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs662796	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690377	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7915	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028543	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs678970	CCDC32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41100800-41120200	Weak transcription	Small Intestine	intestine
2	chr15:41106000-41117600	Weak transcription	Hela-S3	cervix
3	chr15:41107200-41135200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:41107400-41118000	Weak transcription	Gastric	stomach
5	chr15:41107600-41117600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:41107600-41117600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:41107600-41120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:41107600-41135200	Weak transcription	Esophagus	oesophagus
9	chr15:41108200-41135600	Weak transcription	Spleen	Spleen
10	chr15:41108600-41117000	Weak transcription	Colonic Mucosa	Colon
11	chr15:41108600-41117800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:41109000-41117000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:41109200-41120200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:41112000-41135800	Weak transcription	Right Atrium	heart
15	chr15:41115400-41120200	Enhancers	Fetal Intestine Large	intestine
16	chr15:41115600-41117800	Enhancers	HepG2	liver
17	chr15:41116000-41118800	Enhancers	Fetal Intestine Small	intestine
18	chr15:41116000-41119600	Enhancers	Placenta	Placenta
19	chr15:41116400-41117600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:41116400-41118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:41116600-41117000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr15:41116600-41117600	Weak transcription	Stomach Mucosa	stomach
23	chr15:41116600-41117600	Weak transcription	A549	lung
24	chr15:41116600-41119000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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