Variant report

Variant	rs144380129
Chromosome Location	chr7:25990129-25990130
allele	A/G
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	SIN3A	chr7:25989265-25991735	H1-hESC	embryonic stem cell:	n/a	chr7:25990195-25990206 chr7:25990193-25990206 chr7:25991169-25991182 chr7:25990724-25990737 chr7:25991166-25991175 chr7:25991177-25991190 chr7:25990883-25990894
2	POLR2A	chr7:25985526-25991809	GM19099	blood:	n/a	n/a
3	SP4	chr7:25990060-25990392	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr7:25989901-25990600	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr7:25989454-25990268	H1-hESC	embryonic stem cell:	n/a	chr7:25990014-25990024
6	MAX	chr7:25989822-25991418	H1-hESC	embryonic stem cell:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
7	BRCA1	chr7:25989762-25990253	H1-hESC	embryonic stem cell:	n/a	chr7:25989786-25989793
8	POLR2A	chr7:25987021-25992694	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:25986974-25991365	HepG2	liver:	n/a	n/a
10	CREB1	chr7:25989239-25991492	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:25989708-25991441	HL-60	blood:	n/a	n/a
12	POLR2A	chr7:25989717-25990490	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F4	chr7:25990093-25990293	MCF10A-Er-Src	breast:	n/a	chr7:25990185-25990195
14	POLR2A	chr7:25989404-25990965	K562	blood:	n/a	n/a
15	POLR2A	chr7:25986274-25991748	GM18526	blood:	n/a	n/a
16	TAF1	chr7:25989818-25990968	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr7:25989202-25990609	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr7:25989914-25990365	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr7:25989936-25990316	H1-hESC	embryonic stem cell:	n/a	chr7:25990005-25990019 chr7:25990008-25990017 chr7:25990011-25990020 chr7:25990009-25990020
20	MYC	chr7:25990003-25991087	K562	blood:	n/a	chr7:25990932-25990943
21	ZBTB7A	chr7:25989942-25990985	K562	blood:	n/a	chr7:25990625-25990636 chr7:25990624-25990635
22	POLR2A	chr7:25985030-25991406	GM12878	blood:	n/a	n/a
23	MAZ	chr7:25989269-25991382	K562	blood:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
24	ZBTB7A	chr7:25990040-25990236	HepG2	liver:	n/a	n/a
25	HEY1	chr7:25989723-25990971	HepG2	liver:	n/a	chr7:25990009-25990024
26	YY1	chr7:25989945-25991412	HepG2	liver:	n/a	chr7:25990005-25990019 chr7:25991311-25991320 chr7:25990683-25990697 chr7:25990008-25990017 chr7:25990671-25990685 chr7:25990011-25990020 chr7:25990009-25990020
27	POLR2A	chr7:25989181-25991421	GM19193	blood:	n/a	n/a
28	TAF1	chr7:25990103-25990932	HepG2	liver:	n/a	n/a
29	REST	chr7:25989967-25990397	K562	blood:	n/a	n/a
30	POLR2A	chr7:25989945-25990968	K562	blood:	n/a	n/a
31	POLR2A	chr7:25989313-25991380	GM12892	blood:	n/a	n/a
32	BHLHE40	chr7:25989321-25991286	K562	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
33	POLR2A	chr7:25990092-25990348	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr7:25989306-25990131	K562	blood:	n/a	n/a
35	HEY1	chr7:25990111-25990559	K562	blood:	n/a	n/a
36	POLR2A	chr7:25989720-25990475	H1-hESC	embryonic stem cell:	n/a	n/a
37	BHLHE40	chr7:25989373-25991373	HepG2	liver:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
38	YY1	chr7:25989928-25990438	H1-hESC	embryonic stem cell:	n/a	chr7:25990005-25990019 chr7:25990008-25990017 chr7:25990011-25990020 chr7:25990009-25990020
39	RCOR1	chr7:25989255-25991064	K562	blood:	n/a	n/a
40	RFX5	chr7:25989986-25990376	H1-hESC	embryonic stem cell:	n/a	n/a
41	GTF2F1	chr7:25990025-25990428	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr7:25989843-25990369	H1-hESC	embryonic stem cell:	n/a	n/a
43	EP300	chr7:25990060-25990221	HepG2	liver:	n/a	chr7:25990193-25990209
44	MAZ	chr7:25989897-25990339	HepG2	liver:	n/a	n/a
45	ELF1	chr7:25989987-25990996	GM12878	blood:	n/a	chr7:25990672-25990684
46	TAF7	chr7:25989881-25990435	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZBTB7A	chr7:25989987-25990277	HepG2	liver:	n/a	n/a
48	HMGN3	chr7:25990126-25991413	K562	blood:	n/a	n/a
49	ZBTB7A	chr7:25990099-25990940	ECC-1	luminal epithelium:	n/a	chr7:25990625-25990636 chr7:25990624-25990635
50	RAD21	chr7:25989960-25990343	H1-hESC	embryonic stem cell:	n/a	chr7:25990005-25990015

No.	Distal block	Cell Line	Cell type
1	chr7:25932775..25935474-chr7:25989853..25992220,2	K562	blood:
2	chr7:25965773..25968588-chr7:25989969..25992378,2	MCF-7	breast:
3	chr7:25990038..25992521-chr7:26240210..26242861,2	MCF-7	breast:
4	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
5	chr7:25901871..25903514-chr7:25989852..25991943,2	K562	blood:
6	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
7	chr7:25901385..25904121-chr7:25989908..25991928,2	MCF-7	breast:
8	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:

Variant related genes	Relation type
ENSG00000270933	TF binding region
MIR148A	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	esv3394736	chr7:25989527-25992275	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	90 gene(s)	inside rSNPs	diseases
5	esv3425784	chr7:25989652-25992200	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25987200-25993200	Active TSS	Pancreas	Pancrea
2	chr7:25987800-25992800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:25988200-25990200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr7:25988400-25990200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:25989000-25990200	Flanking Active TSS	Fetal Thymus	thymus
6	chr7:25989000-25990200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:25989000-25991400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:25989200-25990200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:25989200-25990400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr7:25989200-25990400	Flanking Active TSS	Colonic Mucosa	Colon
11	chr7:25989200-25991400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:25989200-25991600	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:25989200-25992600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:25989400-25990200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr7:25989400-25990200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:25989400-25990200	Enhancers	Spleen	Spleen
17	chr7:25989400-25990200	Flanking Active TSS	HMEC	breast
18	chr7:25989400-25990400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:25989400-25990400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:25989400-25990400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:25989400-25990400	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr7:25989400-25990600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr7:25989400-25990600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr7:25989400-25991400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:25989400-25991400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:25989400-25991400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:25989400-25991400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:25989400-25991400	Active TSS	Gastric	stomach
29	chr7:25989400-25991600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:25989400-25991600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:25989400-25991600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:25989400-25991800	Active TSS	Fetal Kidney	kidney
33	chr7:25989400-25992000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:25989400-25992400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:25989600-25990200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:25989600-25990200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:25989600-25990200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr7:25989600-25990200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr7:25989600-25990200	Bivalent/Poised TSS	Left Ventricle	heart
40	chr7:25989600-25990200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr7:25989600-25990400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr7:25989600-25990400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr7:25989600-25990400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:25989600-25990400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr7:25989600-25990400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:25989600-25990400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr7:25989600-25990400	Bivalent/Poised TSS	NHLF	lung
48	chr7:25989600-25990600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr7:25989600-25990600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:25989600-25990800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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