Variant report

Variant	rs552487849
Chromosome Location	chr17:16396087-16396088
allele	G/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	RCOR1	chr17:16396063-16396128	K562	blood:	n/a	n/a
2	E2F6	chr17:16395365-16396146	A549	lung:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
3	MAX	chr17:16395456-16396662	H1-hESC	embryonic stem cell:	n/a	chr17:16395674-16395684
4	MAX	chr17:16395002-16396156	A549	lung:	n/a	chr17:16395674-16395684
5	MAX	chr17:16395939-16396429	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr17:16395537-16396402	H1-hESC	embryonic stem cell:	n/a	chr17:16395674-16395684
7	E2F6	chr17:16395451-16396570	H1-hESC	embryonic stem cell:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641
8	E2F6	chr17:16395460-16396435	H1-hESC	embryonic stem cell:	n/a	chr17:16395667-16395677 chr17:16395631-16395643 chr17:16395630-16395641

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
2	chr17:16368821..16370735-chr17:16395780..16397972,2	K562	blood:

Variant related genes	Relation type
FAM211A	TF binding region
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	esv3323619	chr17:16394252-16396800	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3344255	chr17:16394352-16396600	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv574494	chr17:16395083-16398555	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16394000-16396200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:16394600-16396200	Bivalent/Poised TSS	HepG2	liver
3	chr17:16394800-16396200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:16394800-16396200	Active TSS	Brain Angular Gyrus	brain
5	chr17:16394800-16396200	Active TSS	Brain Anterior Caudate	brain
6	chr17:16394800-16396200	Active TSS	Colon Smooth Muscle	Colon
7	chr17:16394800-16396200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr17:16394800-16396200	Active TSS	Rectal Smooth Muscle	rectum
9	chr17:16394800-16396600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:16395000-16396200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:16395000-16396200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:16395000-16396200	Active TSS	Fetal Brain Female	brain
13	chr17:16395000-16396200	Active TSS	Stomach Smooth Muscle	stomach
14	chr17:16395000-16396400	Active TSS	Brain Substantia Nigra	brain
15	chr17:16395600-16396200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr17:16395600-16396200	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:16395600-16396200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:16395600-16396200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:16395600-16396200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:16395600-16396200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr17:16395600-16396400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16395600-16396400	Enhancers	Fetal Brain Male	brain
23	chr17:16395600-16396400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr17:16395800-16396200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr17:16395800-16396200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:16395800-16396200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr17:16395800-16396200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:16395800-16396200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr17:16395800-16396200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr17:16395800-16396200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr17:16395800-16396200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr17:16395800-16396200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr17:16395800-16396200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:16395800-16396200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr17:16395800-16396200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr17:16395800-16396200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:16395800-16396200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr17:16395800-16396200	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr17:16395800-16396200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr17:16395800-16396200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr17:16395800-16396200	Bivalent Enhancer	Placenta	Placenta
42	chr17:16395800-16396200	Flanking Active TSS	Lung	lung
43	chr17:16395800-16396200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr17:16395800-16396200	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr17:16395800-16396200	Bivalent Enhancer	GM12878-XiMat	blood
46	chr17:16395800-16396400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:16395800-16396400	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr17:16395800-16396400	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr17:16395800-16396600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr17:16395800-16397200	Enhancers	Small Intestine	intestine

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