Variant report

Variant	rs11856461
Chromosome Location	chr15:78404407-78404408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78279643..78281604-chr15:78403456..78405899,2	K562	blood:
2	chr15:78403982..78406410-chr15:78531457..78533698,3	MCF-7	breast:
3	chr15:78234203..78236123-chr15:78404295..78405795,2	MCF-7	breast:
4	chr15:78404287..78406239-chr15:78590590..78593267,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261143	Chromatin interaction
ENSG00000214646	Chromatin interaction
ENSG00000140395	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10456	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438507	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441722	1.00[ASN][1000 genomes]
rs62009273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11856461	RP11-114H24.2	cis	Muscle Skeletal	GTEx
rs11856461	CIB2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78393200-78406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78395000-78405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:78395400-78405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:78396000-78405400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78396200-78405600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
7	chr15:78396400-78405400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:78396600-78405400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:78396600-78405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:78397000-78405600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:78397600-78421400	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:78398400-78405400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:78398400-78405600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:78398600-78405200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:78398600-78405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:78398600-78413200	Weak transcription	Spleen	Spleen
19	chr15:78398800-78406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:78399000-78405400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:78400000-78412800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
23	chr15:78400200-78414600	Weak transcription	Fetal Brain Female	brain
24	chr15:78400800-78405200	Weak transcription	Osteobl	bone
25	chr15:78400800-78405400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:78400800-78405600	Weak transcription	HepG2	liver
27	chr15:78401200-78405400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:78401200-78405400	Strong transcription	Fetal Intestine Small	intestine
29	chr15:78401400-78413000	Weak transcription	Fetal Stomach	stomach
30	chr15:78401400-78414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:78402600-78406200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:78403800-78405400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:78403800-78405400	Weak transcription	Fetal Intestine Large	intestine
34	chr15:78403800-78412200	Weak transcription	Thymus	Thymus
35	chr15:78404200-78405400	Weak transcription	Fetal Thymus	thymus

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