Variant report

Variant	rs561529620
Chromosome Location	chr7:66310954-66310955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:66310641-66311068	K562	blood:	n/a	n/a
2	POLR2A	chr7:66310418-66311445	K562	blood:	n/a	n/a
3	POLR2A	chr7:66309484-66311210	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:66310676-66311111	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:66309325-66311241	K562	blood:	n/a	n/a
6	POLR2A	chr7:66309226-66311225	K562	blood:	n/a	n/a
7	HEY1	chr7:66309393-66311646	K562	blood:	n/a	n/a
8	POLR2A	chr7:66310756-66311038	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:66309387-66311373	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:66309244-66311040	K562	blood:	n/a	n/a
12	CTCF	chr7:66310906-66311285	K562	blood:	n/a	n/a
13	NR2F2	chr7:66309099-66311205	K562	blood:	n/a	n/a
14	POLR2A	chr7:66309154-66311361	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr7:66309415-66311591	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr7:66309349-66311018	IMR90	lung:	n/a	n/a
17	POLR2A	chr7:66310700-66310956	GM12878	blood:	n/a	n/a
18	HEY1	chr7:66310597-66310961	HepG2	liver:	n/a	n/a
19	ZNF263	chr7:66310637-66311303	HEK293-T-REx	kidney:	n/a	chr7:66310855-66310864
20	ZBTB7A	chr7:66310625-66311048	K562	blood:	n/a	n/a
21	POLR2A	chr7:66309582-66311049	IMR90	lung:	n/a	n/a
22	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr7:66310913-66311127	K562	blood:	n/a	n/a
24	POLR2A	chr7:66310438-66311572	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:66309633-66311406	K562	blood:	n/a	n/a
26	HEY1	chr7:66309395-66311191	K562	blood:	n/a	n/a
27	POLR2A	chr7:66309388-66311086	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:66309472-66311082	K562	blood:	n/a	n/a
29	E2F6	chr7:66310840-66310998	K562	blood:	n/a	n/a
30	POLR2A	chr7:66309512-66311478	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:66309597-66311143	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:66309303-66311068	K562	blood:	n/a	n/a
33	POLR2A	chr7:66309499-66311004	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:66310554-66311025	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:66309564-66311164	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:66310722-66311083	MCF-7	breast:	n/a	n/a
37	MAX	chr7:66309024-66311070	K562	blood:	n/a	n/a
38	POLR2A	chr7:66309481-66311266	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
3	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
4	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
5	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
6	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
7	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
8	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:
9	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66310014-66311344	NONHSAT121231

No data

Variant related genes	Relation type
ENSG00000232546	TF binding region
GTF2IRD1P1	TF binding region
ENSG00000126524	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66308800-66311000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:66308800-66311000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:66309000-66311000	Active TSS	HSMM	muscle
4	chr7:66310200-66311000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:66310200-66311000	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr7:66310200-66311000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr7:66310200-66311000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:66310200-66311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:66310200-66311000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:66310200-66311000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:66310200-66311000	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr7:66310200-66311000	Flanking Active TSS	Fetal Thymus	thymus
13	chr7:66310200-66311200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr7:66310400-66311000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:66310400-66311000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:66310400-66311000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:66310400-66311000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:66310400-66311000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:66310400-66311000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:66310400-66311000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:66310400-66311000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:66310400-66311000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr7:66310400-66311000	Flanking Active TSS	Pancreas	Pancrea
24	chr7:66310400-66311000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr7:66310400-66311000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr7:66310400-66311000	Flanking Active TSS	Thymus	Thymus
27	chr7:66310400-66311000	Flanking Active TSS	HMEC	breast
28	chr7:66310400-66311000	Flanking Active TSS	NHEK	skin
29	chr7:66310400-66311200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:66310400-66311200	Enhancers	Spleen	Spleen
31	chr7:66310400-66311200	Flanking Active TSS	Dnd41	blood
32	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
33	chr7:66310600-66311000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:66310600-66311000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:66310600-66311000	Enhancers	Primary T cells from cord blood	blood
36	chr7:66310600-66311000	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:66310600-66311000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:66310600-66311000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:66310600-66311000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:66310600-66311000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:66310600-66311000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:66310600-66311000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:66310600-66311000	Flanking Active TSS	Liver	Liver
44	chr7:66310600-66311000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr7:66310600-66311000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:66310600-66311000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr7:66310600-66311000	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:66310600-66311000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:66310600-66311000	Enhancers	Fetal Heart	heart
50	chr7:66310600-66311000	Enhancers	Left Ventricle	heart

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