Variant report

Variant	rs565084992
Chromosome Location	chr7:100082219-100082220
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	FOXA2	chr7:100082068-100082728	A549	lung:	n/a	n/a
2	RAD21	chr7:100080414-100082796	SK-N-SH	brain:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
3	FOXA2	chr7:100082038-100082689	A549	lung:	n/a	n/a
4	CTCF	chr7:100080167-100082239	SK-N-SH	brain:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100081963-100081972 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100082002-100082012 chr7:100080934-100080947 chr7:100080931-100080944
5	CTCF	chr7:100082120-100082270	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr7:100081136..100082722-chr7:100136276..100137942,2	K562	blood:
3	chr7:100081136..100082649-chr7:100135146..100137776,2	K562	blood:
4	chr7:100048219..100049829-chr7:100081555..100083506,2	K562	blood:
5	chr7:100081567..100083777-chr7:100163573..100165544,2	K562	blood:
6	chr7:100080986..100083044-chr7:100224263..100226367,2	MCF-7	breast:
7	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
8	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
9	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
10	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
11	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
12	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
13	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:

Variant related genes	Relation type
NYAP1	TF binding region
ENSG00000266372	TF binding region
ENSG00000106336	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv3375220	chr7:100080241-100082789	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv3381694	chr7:100080416-100082564	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100080400-100082400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:100080400-100082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:100080400-100082600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:100080400-100082600	Active TSS	Fetal Kidney	kidney
5	chr7:100080400-100082800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:100080600-100082400	Active TSS	NHDF-Ad	bronchial
7	chr7:100080600-100082800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:100080800-100082400	Active TSS	Brain Angular Gyrus	brain
9	chr7:100080800-100082600	Active TSS	Brain Substantia Nigra	brain
10	chr7:100080800-100082600	Active TSS	Esophagus	oesophagus
11	chr7:100080800-100083000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:100080800-100083200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:100081000-100082400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:100081000-100082600	Active TSS	Brain Hippocampus Middle	brain
15	chr7:100081000-100083200	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:100081000-100083400	Active TSS	Brain Anterior Caudate	brain
17	chr7:100081000-100090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:100081400-100082400	Enhancers	Pancreas	Pancrea
19	chr7:100081400-100082600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:100081400-100082600	Enhancers	Fetal Heart	heart
21	chr7:100081400-100082600	Enhancers	Stomach Mucosa	stomach
22	chr7:100081400-100083200	Weak transcription	Spleen	Spleen
23	chr7:100081400-100084200	Enhancers	Hela-S3	cervix
24	chr7:100081600-100082400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:100081600-100082400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:100081600-100082400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:100081600-100082400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:100081600-100082400	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr7:100081600-100082400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr7:100081600-100082600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:100081600-100082600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:100081600-100082600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:100081600-100082600	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr7:100081600-100082800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr7:100081800-100082400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:100081800-100082400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr7:100081800-100082400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:100081800-100082400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:100081800-100082400	Active TSS	Colonic Mucosa	Colon
40	chr7:100081800-100082400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr7:100081800-100082400	Flanking Active TSS	A549	lung
42	chr7:100081800-100082400	Enhancers	HUVEC	blood vessel
43	chr7:100081800-100082600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:100081800-100082600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:100081800-100083000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:100081800-100083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:100081800-100083000	Weak transcription	Left Ventricle	heart
48	chr7:100081800-100083000	Weak transcription	Right Ventricle	heart
49	chr7:100081800-100083200	Weak transcription	NH-A	brain
50	chr7:100081800-100083200	Weak transcription	Osteobl	bone

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