Variant report

Variant	rs553381837
Chromosome Location	chr7:4922363-4922364
allele	A/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	TBL1XR1	chr7:4922295-4922621	K562	blood:	n/a	n/a
2	EP300	chr7:4921992-4922515	SK-N-SH_RA	brain:	n/a	chr7:4922154-4922167 chr7:4922340-4922350
3	TAF1	chr7:4921780-4922398	SK-N-SH	brain:	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	POLR2A	chr7:4921639-4922570	SK-N-SH	brain:	n/a	n/a
8	MAX	chr7:4922022-4922363	K562	blood:	n/a	n/a
9	KAP1	chr7:4921861-4922568	HEK293	kidney:	n/a	n/a
10	MXI1	chr7:4921317-4924106	SK-N-SH	brain:	n/a	chr7:4923055-4923070
11	REST	chr7:4922046-4922622	SK-N-SH	brain:	n/a	chr7:4922058-4922071
12	SIN3AK20	chr7:4921705-4922386	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr7:4922302-4922641	SH-SY5Y	brain:	n/a	chr7:4922302-4922315
14	MAZ	chr7:4922061-4922691	K562	blood:	n/a	n/a
15	YY1	chr7:4921681-4922419	SK-N-SH_RA	brain:	n/a	chr7:4921846-4921860
16	CTCF	chr7:4922320-4922470	AG09319	gingival:	n/a	n/a
17	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
18	CREB1	chr7:4921941-4922388	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:4922240-4922390	BE2_C	brain:	n/a	n/a
20	RAD21	chr7:4921723-4922568	SK-N-SH_RA	brain:	n/a	chr7:4921827-4921839
21	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
22	EP300	chr7:4922039-4922467	SK-N-SH_RA	brain:	n/a	chr7:4922154-4922167 chr7:4922340-4922350
23	CREB1	chr7:4921888-4922412	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr7:4921541-4922827	SK-N-SH	brain:	n/a	n/a
25	SIN3A	chr7:4921827-4923640	H1-hESC	embryonic stem cell:	n/a	chr7:4922936-4922949 chr7:4922064-4922073 chr7:4923400-4923409
26	YY1	chr7:4921735-4922387	SK-N-SH_RA	brain:	n/a	chr7:4921846-4921860
27	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
28	MYC	chr7:4922218-4922384	K562	blood:	n/a	n/a
29	MAX	chr7:4921607-4922542	SK-N-SH	brain:	n/a	n/a
30	REST	chr7:4921657-4923013	H1-neurons	neurons:	n/a	chr7:4921934-4921947 chr7:4922058-4922071
31	EP300	chr7:4922103-4922376	K562	blood:	n/a	chr7:4922154-4922167 chr7:4922340-4922350
32	MAX	chr7:4921567-4922771	SK-N-SH	brain:	n/a	n/a
33	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
34	POLR2A	chr7:4921670-4922602	H1-hESC	embryonic stem cell:	n/a	n/a
35	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
36	TAL1	chr7:4922107-4923160	K562	blood:	n/a	chr7:4922631-4922639 chr7:4922623-4922638
37	RCOR1	chr7:4922147-4922437	K562	blood:	n/a	n/a
38	CTCF	chr7:4922360-4922510	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr7:4922317-4922457	K562	blood:	n/a	n/a
40	CREB1	chr7:4922014-4922409	K562	blood:	n/a	n/a
41	ZNF143	chr7:4921842-4922396	H1-hESC	embryonic stem cell:	n/a	chr7:4922283-4922302

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
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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4921400-4922400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:4921400-4922400	Flanking Active TSS	Fetal Stomach	stomach
3	chr7:4921400-4922600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:4921400-4922600	Flanking Active TSS	Fetal Lung	lung
5	chr7:4921400-4923400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:4921400-4923400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:4921400-4923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:4921400-4923400	Active TSS	Right Atrium	heart
9	chr7:4921600-4922400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:4921600-4922400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:4921600-4922400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr7:4921600-4922400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr7:4921600-4922400	Enhancers	Gastric	stomach
14	chr7:4921600-4922600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:4921600-4922600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr7:4921600-4922600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr7:4921600-4922600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr7:4921600-4922600	Flanking Active TSS	Fetal Brain Female	brain
20	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr7:4921600-4922600	Flanking Active TSS	HSMMtube	muscle
22	chr7:4921600-4922600	Flanking Active TSS	NHLF	lung
23	chr7:4921600-4922800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:4921600-4922800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:4921600-4922800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr7:4921600-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr7:4921600-4922800	Flanking Active TSS	Osteobl	bone
28	chr7:4921600-4923000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:4921600-4923000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:4921600-4923200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:4921600-4923200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:4921600-4923400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:4921600-4923400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr7:4921600-4923400	Active TSS	Left Ventricle	heart
35	chr7:4921600-4923600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:4921600-4923800	Active TSS	Aorta	Aorta
37	chr7:4921600-4923800	Active TSS	Brain Angular Gyrus	brain
38	chr7:4921800-4922400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:4921800-4922400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:4921800-4922600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:4921800-4922600	Flanking Active TSS	Right Ventricle	heart
42	chr7:4921800-4922600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr7:4921800-4922600	Flanking Active TSS	HSMM	muscle
44	chr7:4921800-4922600	Flanking Active TSS	NH-A	brain
45	chr7:4921800-4922800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:4921800-4922800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:4921800-4922800	Active TSS	Fetal Heart	heart
48	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr7:4921800-4922800	Enhancers	Pancreas	Pancrea

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