Variant report

Variant	rs11636385
Chromosome Location	chr15:78427530-78427531
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78424791..78431116-chr15:78431151..78434947,7	MCF-7	breast:
2	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
3	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
4	chr15:78425017..78427929-chr15:78494303..78496254,2	K562	blood:
5	chr15:78425346..78429501-chr15:78464309..78466788,4	MCF-7	breast:
6	chr15:78426200..78429701-chr15:78439190..78443873,6	MCF-7	breast:
7	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
8	chr15:78426143..78427664-chr15:78427813..78429713,2	K562	blood:
9	chr15:78422482..78425434-chr15:78426789..78430921,3	K562	blood:
10	chr15:78427128..78429696-chr15:78439900..78441768,2	K562	blood:
11	chr15:78426055..78428346-chr15:78436183..78438129,2	MCF-7	breast:
12	chr15:78413599..78415275-chr15:78425764..78428754,2	MCF-7	breast:
13	chr15:78425668..78428376-chr15:78499083..78501849,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166411	Chromatin interaction
ENSG00000136425	Chromatin interaction
ENSG00000103740	Chromatin interaction
ENSG00000260988	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55681349	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67000301	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72732574	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11636385	CIB2	cis	Esophagus Mucosa	GTEx
rs11636385	RP11-114H24.2	cis	Muscle Skeletal	GTEx
rs11636385	CIB2	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78424400-78433400	Weak transcription	Ovary	ovary
2	chr15:78424600-78440800	Weak transcription	HSMMtube	muscle
3	chr15:78424800-78431600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:78424800-78431800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:78425000-78428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:78425000-78440600	Weak transcription	Fetal Stomach	stomach
7	chr15:78425200-78427800	Weak transcription	A549	lung
8	chr15:78425200-78431600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:78425400-78432000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:78425400-78432600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:78425400-78436800	Weak transcription	Adipose Nuclei	Adipose
12	chr15:78426000-78435800	Weak transcription	Thymus	Thymus
13	chr15:78426000-78440200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:78426400-78428400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:78426400-78428400	Weak transcription	Stomach Mucosa	stomach
16	chr15:78426400-78431600	Weak transcription	Small Intestine	intestine
17	chr15:78427200-78428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:78427200-78428200	Weak transcription	Fetal Intestine Large	intestine
19	chr15:78427200-78438600	Weak transcription	Placenta	Placenta
20	chr15:78427200-78439200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:78427400-78428600	Weak transcription	Fetal Intestine Small	intestine

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