Variant report

Variant	rs9995927
Chromosome Location	chr4:15480073-15480074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:15480060-15480210	GM06990	blood:	n/a	n/a
2	CTCF	chr4:15480000-15480150	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:15479978..15480805-chr4:16002697..16003703,3	K562	blood:
2	chr4:15479910..15482087-chr4:15683434..15685124,3	MCF-7	breast:
3	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
4	chr4:15471401..15472981-chr4:15479809..15481384,2	MCF-7	breast:

Variant related genes	Relation type
CC2D2A	TF binding region
ENSG00000048342	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000237765	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10000250	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012928	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10022530	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033082	0.83[AMR][1000 genomes]
rs10212846	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1024757	0.83[ASN][1000 genomes]
rs1024760	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698110	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838330	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665294	0.83[AMR][1000 genomes]
rs9993580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993656	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994702	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15471800-15480800	Weak transcription	Pancreas	Pancrea
2	chr4:15471800-15481000	Weak transcription	Spleen	Spleen
3	chr4:15472200-15480600	Weak transcription	HSMM	muscle
4	chr4:15472200-15480800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:15472200-15480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:15472200-15480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:15472200-15480800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:15472200-15480800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:15472200-15480800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:15472200-15480800	Weak transcription	Lung	lung
11	chr4:15472600-15480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:15472800-15480800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:15472800-15480800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:15472800-15480800	Weak transcription	NHLF	lung
15	chr4:15473000-15480400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:15473000-15480800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:15473000-15480800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:15473000-15480800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:15473000-15480800	Weak transcription	Fetal Kidney	kidney
20	chr4:15473000-15480800	Weak transcription	Psoas Muscle	Psoas
21	chr4:15473200-15480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:15473200-15480800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:15473200-15480800	Weak transcription	Fetal Heart	heart
24	chr4:15473200-15480800	Weak transcription	Fetal Lung	lung
25	chr4:15473200-15480800	Weak transcription	Fetal Stomach	stomach
26	chr4:15473200-15480800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:15474000-15480800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:15475400-15480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:15475400-15480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:15475600-15480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:15475600-15480400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:15476000-15480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:15476000-15480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:15478200-15480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:15478200-15480800	Weak transcription	Aorta	Aorta
36	chr4:15478200-15480800	Weak transcription	Ovary	ovary
37	chr4:15478400-15480800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:15478400-15480800	Weak transcription	Adipose Nuclei	Adipose
39	chr4:15478400-15480800	Weak transcription	Liver	Liver
40	chr4:15478400-15480800	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:15478400-15480800	Weak transcription	Left Ventricle	heart
42	chr4:15478600-15480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:15478600-15480800	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:15478800-15480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:15479200-15480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:15479400-15480600	Weak transcription	Stomach Smooth Muscle	stomach

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