Variant report

Variant	rs7219665
Chromosome Location	chr17:16191785-16191786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16188072..16192244-chr17:16282440..16289447,10	K562	blood:
2	chr17:16116139..16120988-chr17:16188310..16192683,4	MCF-7	breast:
3	chr17:16188324..16192785-chr17:16195612..16200767,7	K562	blood:
4	chr17:16189537..16191831-chr17:16255657..16257427,2	MCF-7	breast:
5	chr17:16189886..16192515-chr17:16344238..16345817,2	K562	blood:
6	chr17:16116452..16122627-chr17:16187627..16192896,12	K562	blood:

Variant related genes	Relation type
ENSG00000266651	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000170315	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2302314	0.88[EUR][1000 genomes]
rs60374261	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502495	0.86[EUR][1000 genomes]
rs6502496	0.86[EUR][1000 genomes]
rs7207630	0.86[EUR][1000 genomes]
rs7208681	0.86[EUR][1000 genomes]
rs7209811	0.88[EUR][1000 genomes]
rs7210068	0.88[EUR][1000 genomes]
rs7210264	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7212326	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7212874	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7215673	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217418	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7218342	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219795	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7219810	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7219980	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7220699	0.86[EUR][1000 genomes]
rs7223807	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225813	0.86[EUR][1000 genomes]
rs7225926	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978817	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981482	0.82[EUR][1000 genomes]
rs764984	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065649	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068335	0.88[EUR][1000 genomes]
rs8069052	0.88[EUR][1000 genomes]
rs8077949	0.86[EUR][1000 genomes]
rs9674583	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
2	chr17:16181200-16205400	Weak transcription	Dnd41	blood
3	chr17:16187200-16205200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:16188800-16194600	Enhancers	Fetal Intestine Large	intestine
5	chr17:16189000-16191800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr17:16189400-16193200	Enhancers	Stomach Mucosa	stomach
7	chr17:16189400-16216600	Weak transcription	Fetal Brain Female	brain
8	chr17:16189800-16191800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr17:16189800-16191800	Enhancers	Placenta	Placenta
10	chr17:16189800-16192800	Enhancers	Fetal Thymus	thymus
11	chr17:16189800-16193200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr17:16189800-16200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:16190000-16191800	Enhancers	Thymus	Thymus
14	chr17:16190000-16192600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:16190000-16192800	Enhancers	Small Intestine	intestine
16	chr17:16190000-16193200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:16190000-16194000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr17:16190200-16192000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:16190200-16192200	Enhancers	Colonic Mucosa	Colon
20	chr17:16190200-16193200	Enhancers	Liver	Liver
21	chr17:16190200-16194000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr17:16190200-16200800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr17:16190200-16200800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:16190200-16200800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:16190200-16201000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:16190400-16203000	Weak transcription	Left Ventricle	heart
27	chr17:16190600-16191800	Enhancers	HSMM	muscle
28	chr17:16190600-16192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:16190600-16192800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:16190600-16192800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:16190600-16193600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:16190600-16194200	Enhancers	Fetal Intestine Small	intestine
33	chr17:16190600-16194600	Enhancers	HepG2	liver
34	chr17:16190600-16194800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:16190600-16203000	Weak transcription	Ovary	ovary
36	chr17:16190600-16205000	Weak transcription	Lung	lung
37	chr17:16190600-16205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:16190600-16229600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:16190800-16192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:16190800-16195200	Enhancers	Primary B cells from peripheral blood	blood
41	chr17:16190800-16198000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr17:16190800-16198000	Weak transcription	Gastric	stomach
43	chr17:16190800-16200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:16190800-16200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr17:16190800-16201000	Weak transcription	Spleen	Spleen
46	chr17:16190800-16203000	Weak transcription	Fetal Muscle Leg	muscle
47	chr17:16190800-16204200	Weak transcription	Brain Anterior Caudate	brain
48	chr17:16190800-16205000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:16190800-16205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:16190800-16205200	Weak transcription	NHEK	skin

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