Variant report

Variant	rs9998697
Chromosome Location	chr4:15486835-15486836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15486404..15488431-chr4:15495017..15497202,2	K562	blood:
2	chr4:15484757..15487117-chr4:15489258..15491846,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11728800	0.81[EUR][1000 genomes]
rs12500458	0.80[EUR][1000 genomes]
rs13131700	0.84[EUR][1000 genomes]
rs1861048	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2080176	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080177	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087622	0.83[EUR][1000 genomes]
rs34465372	0.84[EUR][1000 genomes]
rs4063953	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140933	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140934	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698112	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698387	0.84[EUR][1000 genomes]
rs6810461	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9993748	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998686	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
2	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
3	chr4:15481600-15498600	Weak transcription	Liver	Liver
4	chr4:15481600-15519000	Weak transcription	Gastric	stomach
5	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:15482000-15487000	Weak transcription	HSMM	muscle
7	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:15482200-15490400	Weak transcription	A549	lung
13	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:15482600-15487400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:15482600-15487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:15482600-15487600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:15482600-15526400	Weak transcription	HMEC	breast
20	chr4:15482800-15489600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:15483000-15490200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:15483200-15487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:15483600-15493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:15484800-15490000	Weak transcription	Osteobl	bone
27	chr4:15485000-15487800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:15485000-15487800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:15485000-15490200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:15485000-15490200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:15485000-15490200	Weak transcription	Fetal Intestine Small	intestine
32	chr4:15485000-15490200	Weak transcription	Lung	lung
33	chr4:15485000-15504800	Weak transcription	Ovary	ovary
34	chr4:15485200-15494400	Weak transcription	Fetal Heart	heart
35	chr4:15485600-15489800	Weak transcription	NHLF	lung
36	chr4:15485800-15487000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:15485800-15487800	Strong transcription	Fetal Lung	lung
38	chr4:15486200-15488200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:15486200-15490200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:15486200-15490200	Weak transcription	Aorta	Aorta
41	chr4:15486200-15490200	Weak transcription	Fetal Stomach	stomach
42	chr4:15486200-15490200	Weak transcription	Left Ventricle	heart
43	chr4:15486400-15487000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr4:15486400-15487000	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr4:15486400-15487000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr4:15486400-15487200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:15486400-15487200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:15486400-15487800	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr4:15486600-15487000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr4:15486600-15487000	Strong transcription	Colon Smooth Muscle	Colon

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