Variant report

Variant	rs76522815
Chromosome Location	chr7:4922582-4922583
allele	A/C
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	CCNT2	chr7:4922509-4923651	K562	blood:	n/a	chr7:4923466-4923475 chr7:4923590-4923599 chr7:4923551-4923560
2	CTCF	chr7:4922560-4922710	AG10803	skin:	n/a	n/a
3	TBL1XR1	chr7:4922295-4922621	K562	blood:	n/a	n/a
4	E2F6	chr7:4922094-4923618	K562	blood:	n/a	chr7:4923242-4923251 chr7:4922864-4922878 chr7:4923414-4923429 chr7:4923252-4923263 chr7:4923551-4923560 chr7:4923446-4923455
5	RCOR1	chr7:4922004-4922780	K562	blood:	n/a	n/a
6	POLR2A	chr7:4921914-4923705	H1-neurons	neurons:	n/a	n/a
7	MXI1	chr7:4921317-4924106	SK-N-SH	brain:	n/a	chr7:4923055-4923070
8	REST	chr7:4922046-4922622	SK-N-SH	brain:	n/a	chr7:4922058-4922071
9	GATA3	chr7:4922302-4922641	SH-SY5Y	brain:	n/a	chr7:4922302-4922315
10	MAZ	chr7:4922061-4922691	K562	blood:	n/a	n/a
11	CTCF	chr7:4922460-4922610	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr7:4921537-4924514	SK-N-SH	brain:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4922058-4922071 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923020-4923030 chr7:4923545-4923558 chr7:4923748-4923761 chr7:4923319-4923332 chr7:4923314-4923332 chr7:4921846-4921859
13	SMC3	chr7:4921483-4924364	SK-N-SH	brain:	n/a	chr7:4923316-4923326 chr7:4923508-4923518 chr7:4923316-4923330 chr7:4923544-4923558 chr7:4923508-4923522
14	TCF12	chr7:4921541-4922827	SK-N-SH	brain:	n/a	n/a
15	SIN3A	chr7:4921827-4923640	H1-hESC	embryonic stem cell:	n/a	chr7:4922936-4922949 chr7:4922064-4922073 chr7:4923400-4923409
16	RAD21	chr7:4921333-4924029	SK-N-SH	brain:	n/a	chr7:4923439-4923453 chr7:4923544-4923558 chr7:4921827-4921839 chr7:4923318-4923332 chr7:4922565-4922578 chr7:4923504-4923523
17	REST	chr7:4921657-4923013	H1-neurons	neurons:	n/a	chr7:4921934-4921947 chr7:4922058-4922071
18	MAX	chr7:4921567-4922771	SK-N-SH	brain:	n/a	n/a
19	GATA2	chr7:4921621-4922759	SH-SY5Y	brain:	n/a	chr7:4921735-4921751 chr7:4921735-4921751 chr7:4921739-4921748 chr7:4922302-4922315 chr7:4921739-4921746 chr7:4921738-4921748
20	POLR2A	chr7:4921670-4922602	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:4922223-4924010	A549	lung:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923020-4923030 chr7:4923545-4923558 chr7:4923748-4923761 chr7:4923319-4923332 chr7:4923314-4923332
22	TAL1	chr7:4922107-4923160	K562	blood:	n/a	chr7:4922631-4922639 chr7:4922623-4922638
23	E2F6	chr7:4922522-4922652	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4922565-4922615	BE2_C	brain:	n/a
2	chr7:4922565-4922615	HEEpiC	esophagus:	n/a
3	chr7:4922565-4922615	ECC-1	luminal epithelium:	n/a
4	chr7:4922565-4922615	AG09309	skin:	n/a
5	chr7:4922565-4922615	HCF	heart:	n/a
6	chr7:4922565-4922615	GM12892	blood:	n/a
7	chr7:4922565-4922615	NT2-D1	testis:	n/a
8	chr7:4922565-4922615	NB4	blood:	n/a
9	chr7:4922565-4922615	SKMC	muscle:	n/a
10	chr7:4922565-4922615	Jurkat	blood:	n/a
11	chr7:4922565-4922615	NHBE	bronchial:	n/a
12	chr7:4922565-4922615	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:4922565-4922615	PrEC	prostate:	n/a
14	chr7:4922565-4922615	U87	brain:	n/a
15	chr7:4922565-4922615	Hela-S3	cervix:	n/a
16	chr7:4922565-4922615	HCT-116	colon:	n/a
17	chr7:4922565-4922615	BJ	skin:	n/a
18	chr7:4922565-4922615	GM12878	blood:	n/a
19	chr7:4922565-4922615	HMEC	breast:	n/a
20	chr7:4922565-4922615	HEK293	kidney:	embryo
21	chr7:4922565-4922615	GM12891	blood:	n/a
22	chr7:4922565-4922615	GM06990	blood:	n/a
23	chr7:4922565-4922615	AG09319	gingival:	n/a
24	chr7:4922565-4922615	HL-60	blood:	n/a
25	chr7:4922565-4922615	HNPCEpiC	eye:	n/a
26	chr7:4922565-4922615	HIPEpiC	eye:	n/a
27	chr7:4922565-4922615	MCF10A-Er-Src	breast:	n/a
28	chr7:4922565-4922615	A549	lung:	n/a
29	chr7:4922565-4922615	RPTEC	kidney:	n/a
30	chr7:4922565-4922615	ovcar-3	ovarian:	n/a
31	chr7:4922565-4922615	K562	blood:	n/a
32	chr7:4922565-4922615	NH-A	brain:	n/a
33	chr7:4922565-4922615	SK-N-MC	brain:	n/a
34	chr7:4922565-4922615	HRE	kidney:	n/a
35	chr7:4922565-4922615	H1-hESC	embryonic stem cell:	embryo
36	chr7:4922565-4922615	HepG2	liver:	n/a
37	chr7:4922565-4922615	HRPEpiC	eye:	n/a
38	chr7:4922565-4922615	PANC-1	pancreas:	n/a
39	chr7:4922565-4922615	MCF-7	breast:	n/a
40	chr7:4922565-4922615	T-47D	breast:	n/a
41	chr7:4922565-4922615	ProgFib	skin:	n/a
42	chr7:4922565-4922615	SAEC	small airway:	n/a
43	chr7:4922565-4922615	LNCaP	prostate:	n/a
44	chr7:4922565-4922615	Caco-2	colon:	n/a
45	chr7:4922565-4922615	AG10803	skin:	n/a
46	chr7:4922565-4922615	HCPEpiC	choroid plexus:	n/a
47	chr7:4922565-4922615	Hepatocyte	liver:	n/a
48	chr7:4922565-4922615	IMR90	lung:	fetal
49	chr7:4922565-4922615	PFSK-1	brain:	n/a
50	chr7:4922565-4922615	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4920954..4923771-chr7:5084405..5086180,2	K562	blood:

Variant related genes	Relation type
RADIL	TF binding region
RADIL	CpG island
ENSG00000146587	Chromatin interaction
ENSG00000272968	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
21	nsv971151	chr7:4915196-4928162	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv3434811	chr7:4922326-4924674	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4921400-4922600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:4921400-4922600	Flanking Active TSS	Fetal Lung	lung
3	chr7:4921400-4923400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:4921400-4923400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:4921400-4923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:4921400-4923400	Active TSS	Right Atrium	heart
7	chr7:4921600-4922600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:4921600-4922600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr7:4921600-4922600	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr7:4921600-4922600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr7:4921600-4922600	Flanking Active TSS	Fetal Brain Female	brain
13	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr7:4921600-4922600	Flanking Active TSS	HSMMtube	muscle
15	chr7:4921600-4922600	Flanking Active TSS	NHLF	lung
16	chr7:4921600-4922800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:4921600-4922800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:4921600-4922800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr7:4921600-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr7:4921600-4922800	Flanking Active TSS	Osteobl	bone
21	chr7:4921600-4923000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:4921600-4923000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:4921600-4923200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:4921600-4923200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:4921600-4923400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:4921600-4923400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr7:4921600-4923400	Active TSS	Left Ventricle	heart
28	chr7:4921600-4923600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:4921600-4923800	Active TSS	Aorta	Aorta
30	chr7:4921600-4923800	Active TSS	Brain Angular Gyrus	brain
31	chr7:4921800-4922600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:4921800-4922600	Flanking Active TSS	Right Ventricle	heart
33	chr7:4921800-4922600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr7:4921800-4922600	Flanking Active TSS	HSMM	muscle
35	chr7:4921800-4922600	Flanking Active TSS	NH-A	brain
36	chr7:4921800-4922800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:4921800-4922800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:4921800-4922800	Active TSS	Fetal Heart	heart
39	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr7:4921800-4922800	Enhancers	Pancreas	Pancrea
42	chr7:4921800-4922800	Flanking Active TSS	HUVEC	blood vessel
43	chr7:4921800-4922800	Flanking Active TSS	K562	blood
44	chr7:4921800-4923200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr7:4921800-4923200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:4921800-4923200	Active TSS	NHDF-Ad	bronchial
47	chr7:4921800-4923400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:4921800-4923400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:4921800-4923400	Active TSS	Brain Hippocampus Middle	brain
50	chr7:4921800-4923400	Active TSS	Lung	lung

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