Variant report

Variant	rs7215851
Chromosome Location	chr17:15141354-15141355
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	SPI1	chr17:15141266-15141916	HL-60	blood:	n/a	chr17:15141597-15141610 chr17:15141582-15141595 chr17:15141581-15141594 chr17:15141600-15141609

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15140658..15142879-chr17:15167225..15168851,2	K562	blood:

Variant related genes	Relation type
ENSG00000238806	TF binding region
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215236	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3744333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785646	0.83[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap]
rs3785653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785654	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826362	0.83[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap]
rs59723054	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502439	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7221491	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812936	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812942	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812947	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977960	0.89[EUR][1000 genomes]
rs73977961	0.89[EUR][1000 genomes]
rs740649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9889622	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9899379	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15131200-15141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:15131600-15145600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:15132200-15144400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
5	chr17:15132400-15143200	Strong transcription	HSMMtube	muscle
6	chr17:15132600-15142800	Weak transcription	Esophagus	oesophagus
7	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:15134600-15143200	Strong transcription	HSMM	muscle
9	chr17:15135200-15144800	Genic enhancers	Colon Smooth Muscle	Colon
10	chr17:15135600-15142400	Genic enhancers	NHDF-Ad	bronchial
11	chr17:15135600-15143400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:15135800-15141800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
15	chr17:15136000-15141400	Weak transcription	Fetal Brain Male	brain
16	chr17:15136800-15141600	Strong transcription	A549	lung
17	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
18	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
19	chr17:15137400-15141600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:15137400-15142400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:15137400-15143400	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:15137600-15141600	Weak transcription	Gastric	stomach
23	chr17:15137800-15143000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:15138000-15144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:15138200-15141800	Weak transcription	Fetal Kidney	kidney
26	chr17:15138400-15143000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:15138600-15142600	Strong transcription	Ovary	ovary
28	chr17:15138600-15144200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:15138800-15141400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:15138800-15141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15139000-15142000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:15139000-15143000	Strong transcription	Brain Anterior Caudate	brain
33	chr17:15139000-15143000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr17:15139000-15143400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
36	chr17:15139400-15143000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr17:15139400-15143000	Genic enhancers	Right Ventricle	heart
38	chr17:15139400-15143200	Genic enhancers	Adipose Nuclei	Adipose
39	chr17:15139400-15143600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:15139600-15143000	Strong transcription	HUVEC	blood vessel
41	chr17:15139800-15141400	Weak transcription	Fetal Stomach	stomach
42	chr17:15139800-15141600	Weak transcription	Lung	lung
43	chr17:15139800-15141600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr17:15139800-15142200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr17:15139800-15142600	Strong transcription	Placenta	Placenta
46	chr17:15139800-15143000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr17:15139800-15148400	Weak transcription	Right Atrium	heart
48	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:15140000-15141400	Weak transcription	Brain Hippocampus Middle	brain

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