Variant report

Variant	rs550709630
Chromosome Location	chr7:139528925-139528926
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	SPI1	chr7:139528630-139529286	HL-60	blood:	n/a	chr7:139528834-139528841 chr7:139529013-139529020 chr7:139528887-139528896 chr7:139529007-139529020 chr7:139529011-139529024
2	SPI1	chr7:139528808-139529297	GM12891	blood:	n/a	chr7:139528834-139528841 chr7:139529013-139529020 chr7:139528887-139528896 chr7:139529007-139529020 chr7:139529011-139529024
3	POLR2A	chr7:139528866-139531381	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:139528786-139529377	HL-60	blood:	n/a	n/a
5	MAX	chr7:139528680-139529581	A549	lung:	n/a	n/a
6	PML	chr7:139528715-139530230	GM12878	blood:	n/a	chr7:139530137-139530145
7	MAX	chr7:139528914-139529329	K562	blood:	n/a	n/a
8	MAFK	chr7:139528906-139529001	HepG2	liver:	n/a	chr7:139528959-139528974 chr7:139528964-139528973 chr7:139528958-139528972 chr7:139528964-139528974
9	MAZ	chr7:139528883-139529751	GM12878	blood:	n/a	n/a
10	MAX	chr7:139528901-139529219	GM12878	blood:	n/a	n/a
11	BATF	chr7:139528827-139529129	GM12878	blood:	n/a	chr7:139528966-139528977
12	MAFK	chr7:139528790-139529162	K562	blood:	n/a	chr7:139528959-139528974 chr7:139528964-139528973 chr7:139528958-139528972 chr7:139528964-139528974 chr7:139528828-139528843
13	MAX	chr7:139528912-139529240	K562	blood:	n/a	n/a
14	SPI1	chr7:139528896-139529202	K562	blood:	n/a	chr7:139529013-139529020 chr7:139529007-139529020 chr7:139529011-139529024
15	MTA3	chr7:139528719-139531447	GM12878	blood:	n/a	n/a
16	SPI1	chr7:139528723-139529246	GM12891	blood:	n/a	chr7:139528834-139528841 chr7:139529013-139529020 chr7:139528887-139528896 chr7:139529007-139529020 chr7:139529011-139529024
17	POLR2A	chr7:139528871-139529901	NB4	blood:	n/a	n/a
18	ATF1	chr7:139528842-139529018	K562	blood:	n/a	n/a
19	POLR2A	chr7:139528896-139529379	GM12891	blood:	n/a	n/a
20	MYC	chr7:139528753-139530323	NB4	blood:	n/a	chr7:139530258-139530267
21	RUNX3	chr7:139528741-139529306	GM12878	blood:	n/a	n/a
22	RUNX3	chr7:139528715-139529253	GM12878	blood:	n/a	n/a
23	RELA	chr7:139528902-139529894	GM19099	blood:	n/a	n/a
24	POLR2A	chr7:139528910-139529460	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:139528910-139529944	GM19099	blood:	n/a	n/a
26	POLR2A	chr7:139528913-139529417	HL-60	blood:	n/a	n/a
27	MAFK	chr7:139528817-139529134	IMR90	lung:	n/a	chr7:139528959-139528974 chr7:139528964-139528973 chr7:139528958-139528972 chr7:139528964-139528974 chr7:139528828-139528843
28	FOXA2	chr7:139528704-139529560	A549	lung:	n/a	n/a
29	TCF12	chr7:139528683-139529919	A549	lung:	n/a	chr7:139528878-139528887
30	TEAD4	chr7:139528755-139529314	K562	blood:	n/a	n/a
31	MAX	chr7:139528783-139529990	NB4	blood:	n/a	n/a
32	TBL1XR1	chr7:139528917-139529831	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:139528908-139529963	GM18505	blood:	n/a	n/a
34	MAFF	chr7:139528807-139529151	K562	blood:	n/a	n/a
35	TAF1	chr7:139528838-139529407	GM12878	blood:	n/a	n/a
36	MAZ	chr7:139528912-139529162	K562	blood:	n/a	n/a
37	STAT5A	chr7:139528798-139529994	GM12878	blood:	n/a	chr7:139529535-139529546 chr7:139529728-139529735 chr7:139529007-139529019 chr7:139528832-139528839
38	NFIC	chr7:139528818-139530267	GM12878	blood:	n/a	n/a
39	MAFK	chr7:139528826-139529041	HepG2	liver:	n/a	chr7:139528959-139528974 chr7:139528964-139528973 chr7:139528958-139528972 chr7:139528964-139528974 chr7:139528828-139528843
40	POLR2A	chr7:139528923-139529326	GM12891	blood:	n/a	n/a
41	MAX	chr7:139528916-139529168	K562	blood:	n/a	n/a
42	SMC3	chr7:139528890-139529065	GM12878	blood:	n/a	n/a
43	EP300	chr7:139528892-139529160	GM12878	blood:	n/a	chr7:139528897-139528911
44	BHLHE40	chr7:139528886-139529147	GM12878	blood:	n/a	n/a
45	TBP	chr7:139528907-139529269	GM12878	blood:	n/a	n/a
46	FOS	chr7:139528760-139529174	HUVEC	blood vessel:	n/a	chr7:139528964-139528975 chr7:139528964-139528976
47	SPI1	chr7:139528617-139529379	HL-60	blood:	n/a	chr7:139528834-139528841 chr7:139529013-139529020 chr7:139528887-139528896 chr7:139529007-139529020 chr7:139529011-139529024
48	SPI1	chr7:139528922-139529254	GM12878	blood:	n/a	chr7:139529013-139529020 chr7:139529007-139529020 chr7:139529011-139529024

Variant related genes	Relation type
TBXAS1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1804134	chr7:139528662-139539855	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139517200-139529200	Weak transcription	Right Atrium	heart
2	chr7:139525600-139529000	Weak transcription	Ovary	ovary
3	chr7:139526200-139529000	Weak transcription	NH-A	brain
4	chr7:139526200-139530000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:139526400-139529000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:139526400-139535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:139528000-139529000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:139528200-139529000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:139528200-139529000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:139528200-139529000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:139528200-139529000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:139528200-139529000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:139528200-139529000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:139528200-139529000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:139528200-139529000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:139528200-139529000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:139528200-139529000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:139528200-139529000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:139528200-139529000	Enhancers	Fetal Thymus	thymus
20	chr7:139528200-139529000	Enhancers	Stomach Mucosa	stomach
21	chr7:139528200-139529000	Enhancers	Thymus	Thymus
22	chr7:139528200-139529200	Enhancers	Gastric	stomach
23	chr7:139528200-139529400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:139528200-139529400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:139528200-139531400	Enhancers	Fetal Kidney	kidney
26	chr7:139528200-139532000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr7:139528400-139529000	Enhancers	Liver	Liver
28	chr7:139528400-139529000	Enhancers	Colonic Mucosa	Colon
29	chr7:139528400-139529000	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:139528400-139529000	Enhancers	Lung	lung
31	chr7:139528400-139529000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:139528400-139529000	Enhancers	GM12878-XiMat	blood
33	chr7:139528400-139529000	Enhancers	HepG2	liver
34	chr7:139528400-139529400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:139528400-139529400	Enhancers	Fetal Intestine Small	intestine
36	chr7:139528400-139530200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:139528400-139530600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:139528400-139531000	Enhancers	Fetal Lung	lung
39	chr7:139528600-139529000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:139528600-139529400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:139528600-139529400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:139528600-139529400	Enhancers	Spleen	Spleen
43	chr7:139528600-139529600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:139528600-139530000	Flanking Active TSS	A549	lung
45	chr7:139528600-139530000	Enhancers	HUVEC	blood vessel
46	chr7:139528600-139531000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr7:139528600-139531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:139528800-139529000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:139528800-139529000	Weak transcription	Placenta	Placenta
50	chr7:139528800-139529000	Active TSS	Monocytes-CD14+_RO01746	blood

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