Variant report

Variant	rs529017120
Chromosome Location	chr7:127033020-127033021
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	BCLAF1	chr7:127032079-127033345	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
2	CHD1	chr7:127031088-127033775	IMR90	lung:	n/a	chr7:127032379-127032389
3	POLR2A	chr7:127031733-127033229	A549	lung:	n/a	n/a
4	TAF1	chr7:127032983-127033248	GM12891	blood:	n/a	n/a
5	IRF4	chr7:127032913-127033409	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:127031702-127033360	PFSK-1	brain:	n/a	n/a
7	EP300	chr7:127032595-127033240	GM12878	blood:	n/a	n/a
8	GABPA	chr7:127031609-127033083	HL-60	blood:	n/a	chr7:127032391-127032400
9	POLR2A	chr7:127031450-127033847	GM12891	blood:	n/a	n/a
10	GABPA	chr7:127031641-127033220	A549	lung:	n/a	chr7:127032391-127032400
11	CHD2	chr7:127032094-127033324	GM12878	blood:	n/a	chr7:127032379-127032389
12	PML	chr7:127032496-127033223	GM12878	blood:	n/a	n/a
13	ELF1	chr7:127031619-127033358	GM12878	blood:	n/a	chr7:127032988-127033000 chr7:127031964-127031976 chr7:127032292-127032301 chr7:127031982-127031994 chr7:127031972-127031984
14	E2F6	chr7:127032654-127033150	K562	blood:	n/a	n/a
15	POU2F2	chr7:127031734-127033166	GM12891	blood:	n/a	chr7:127032670-127032682 chr7:127032436-127032448
16	JUND	chr7:127032090-127033231	K562	blood:	n/a	n/a
17	MAX	chr7:127031599-127033723	HepG2	liver:	n/a	chr7:127033389-127033398 chr7:127032026-127032035 chr7:127033387-127033400 chr7:127032671-127032681 chr7:127033388-127033399
18	SIN3AK20	chr7:127032508-127033253	A549	lung:	n/a	n/a
19	EGR1	chr7:127031964-127033174	HCT-116	colon:	n/a	chr7:127032034-127032044 chr7:127032809-127032824 chr7:127032668-127032681 chr7:127032788-127032797 chr7:127032668-127032678 chr7:127032779-127032792 chr7:127033054-127033063
20	POLR2A	chr7:127032129-127033493	SK-N-SH	brain:	n/a	n/a
21	CHD2	chr7:127032099-127033169	HepG2	liver:	n/a	chr7:127032379-127032389
22	JUND	chr7:127031647-127033143	A549	lung:	n/a	n/a
23	SIN3AK20	chr7:127031476-127033533	MCF-7	breast:	n/a	n/a
24	CREB1	chr7:127031571-127033319	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:127032060-127033340	PANC-1	pancreas:	n/a	n/a
26	ETS1	chr7:127031656-127033389	K562	blood:	n/a	chr7:127032788-127032802 chr7:127031776-127031789 chr7:127031862-127031879 chr7:127032389-127032400 chr7:127032787-127032800 chr7:127032617-127032630 chr7:127032785-127032800 chr7:127032789-127032800
27	RELA	chr7:127031667-127033403	GM18951	blood:	n/a	n/a
28	POLR2A	chr7:127031444-127033564	HL-60	blood:	n/a	n/a
29	TAF1	chr7:127031710-127033304	GM12878	blood:	n/a	n/a
30	MAZ	chr7:127031443-127033854	IMR90	lung:	n/a	chr7:127033389-127033398 chr7:127032026-127032035 chr7:127033387-127033400 chr7:127032671-127032681 chr7:127033388-127033399
31	YY1	chr7:127031744-127033144	K562	blood:	n/a	chr7:127033052-127033066 chr7:127032428-127032442 chr7:127032007-127032021 chr7:127032208-127032222
32	POLR2A	chr7:127032623-127033110	A549	lung:	n/a	n/a
33	POLR2A	chr7:127031543-127033368	GM12891	blood:	n/a	n/a
34	POLR2A	chr7:127032193-127033545	U87	brain:	n/a	n/a
35	ZMIZ1	chr7:127032052-127033426	K562	blood:	n/a	n/a
36	TAF1	chr7:127032574-127033124	HepG2	liver:	n/a	n/a
37	CTCF	chr7:127032920-127033070	GM12875	blood:	n/a	n/a
38	TAF1	chr7:127031995-127033137	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr7:127031707-127033380	GM12878	blood:	n/a	n/a
40	RCOR1	chr7:127032262-127033441	Hela-S3	cervix:	n/a	n/a
41	NRF1	chr7:127032658-127033235	K562	blood:	n/a	chr7:127032850-127032861 chr7:127032867-127032878
42	MYC	chr7:127032615-127033129	MCF-7	breast:	n/a	chr7:127032671-127032681
43	MAX	chr7:127031540-127033469	NB4	blood:	n/a	chr7:127033389-127033398 chr7:127032026-127032035 chr7:127033387-127033400 chr7:127032671-127032681 chr7:127033388-127033399
44	POLR2A	chr7:127031570-127033625	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:127031314-127033712	GM12878	blood:	n/a	n/a
46	IRF1	chr7:127032645-127033218	K562	blood:	n/a	chr7:127033120-127033134 chr7:127033120-127033133 chr7:127033122-127033132 chr7:127033118-127033132 chr7:127033119-127033133 chr7:127033122-127033136
47	POLR2A	chr7:127032204-127033275	GM12878	blood:	n/a	n/a
48	TAF1	chr7:127032103-127033117	HepG2	liver:	n/a	n/a
49	TBL1XR1	chr7:127032214-127033470	K562	blood:	n/a	n/a
50	POLR2A	chr7:127031479-127033540	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
2	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
3	chr7:126892951..126894660-chr7:127031651..127034423,2	MCF-7	breast:
4	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
5	chr7:127030999..127034277-chr7:127071570..127073569,4	K562	blood:
6	chr7:127011403..127015656-chr7:127030018..127033626,5	MCF-7	breast:
7	chr7:127031743..127033878-chr8:109462577..109465197,2	K562	blood:
8	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
9	chr10:88818573..88820601-chr7:127031334..127033710,2	MCF-7	breast:
10	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
11	chr16:30406383..30407257-chr7:127032814..127033615,2	NB4	blood:
12	chr7:126980512..126983635-chr7:127032976..127036223,3	K562	blood:
13	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
14	chr17:62971494..62972104-chr7:127032744..127033587,2	HCT-116	colon:
15	chr17:57914420..57916265-chr7:127031107..127033179,2	MCF-7	breast:
16	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
17	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:

Variant related genes	Relation type
ZNF800	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000224138	Chromatin interaction
ENSG00000148672	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000179603	Chromatin interaction
ENSG00000104412	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3373113	chr7:127030941-127033489	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	nsv820163	chr7:127031590-127033207	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127030800-127033200	Active TSS	GM12878-XiMat	blood
2	chr7:127031000-127033200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127031000-127033200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:127031200-127033200	Active TSS	HSMM	muscle
5	chr7:127031200-127033400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:127031200-127033400	Active TSS	A549	lung
7	chr7:127031200-127033600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:127031200-127033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:127031200-127033800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:127031200-127034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:127031200-127034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:127031200-127034000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:127031200-127034000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:127031200-127034200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:127031200-127034200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127031200-127034200	Active TSS	Psoas Muscle	Psoas
17	chr7:127031200-127034200	Active TSS	Right Atrium	heart
18	chr7:127031400-127033200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr7:127031400-127033200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr7:127031400-127033200	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr7:127031400-127033200	Active TSS	Stomach Mucosa	stomach
22	chr7:127031400-127033200	Active TSS	Hela-S3	cervix
23	chr7:127031400-127033400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:127031400-127033400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:127031400-127033400	Active TSS	Esophagus	oesophagus
26	chr7:127031400-127033400	Active TSS	Fetal Intestine Large	intestine
27	chr7:127031400-127033400	Active TSS	Fetal Muscle Trunk	muscle
28	chr7:127031400-127033600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:127031400-127033600	Active TSS	Gastric	stomach
30	chr7:127031400-127033800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:127031400-127034000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:127031400-127034000	Active TSS	Ovary	ovary
33	chr7:127031400-127034200	Active TSS	Colon Smooth Muscle	Colon
34	chr7:127031600-127033200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:127031600-127033200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:127031600-127033200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:127031600-127033200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:127031600-127033200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr7:127031600-127033200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:127031600-127033200	Active TSS	Fetal Intestine Small	intestine
41	chr7:127031600-127033200	Active TSS	Fetal Thymus	thymus
42	chr7:127031600-127033200	Active TSS	NH-A	brain
43	chr7:127031600-127033200	Active TSS	NHEK	skin
44	chr7:127031600-127033200	Active TSS	Osteobl	bone
45	chr7:127031600-127033400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:127031600-127033400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:127031600-127033400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:127031600-127033400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:127031600-127033400	Active TSS	Primary T cells from cord blood	blood
50	chr7:127031600-127033400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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