Variant report

Variant	rs548758727
Chromosome Location	chr7:6629682-6629683
allele	-/GCTCCCGGCG
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	TAF1	chr7:6629406-6630102	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:6629245-6630402	GM12878	blood:	n/a	n/a
3	NRF1	chr7:6629084-6630389	SK-N-SH	brain:	n/a	chr7:6629523-6629532
4	GTF2B	chr7:6629523-6629798	K562	blood:	n/a	n/a
5	FOXA1	chr7:6629371-6629885	HepG2	liver:	n/a	n/a
6	MAX	chr7:6629364-6630386	K562	blood:	n/a	n/a
7	TAF7	chr7:6629573-6629760	K562	blood:	n/a	n/a
8	POLR2A	chr7:6628828-6630384	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:6629320-6630101	K562	blood:	n/a	n/a
10	POLR2A	chr7:6629369-6630365	GM15510	blood:	n/a	n/a
11	CTCF	chr7:6629540-6629690	GM12874	blood:	n/a	chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629570-6629583 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583
12	POLR2A	chr7:6629383-6629932	HepG2	liver:	n/a	n/a
13	MAX	chr7:6629197-6630487	A549	lung:	n/a	n/a
14	POLR2A	chr7:6629325-6630193	GM19099	blood:	n/a	n/a
15	FOSL2	chr7:6629259-6629817	HepG2	liver:	n/a	n/a
16	MXI1	chr7:6629428-6630492	Hela-S3	cervix:	n/a	n/a
17	ZBTB33	chr7:6629384-6629885	A549	lung:	n/a	n/a
18	ARID3A	chr7:6629468-6629712	K562	blood:	n/a	n/a
19	HA-E2F1	chr7:6629324-6630258	Hela-S3	cervix:	n/a	chr7:6629523-6629532 chr7:6629776-6629786 chr7:6629734-6629744 chr7:6629720-6629730 chr7:6629673-6629683
20	MAX	chr7:6629362-6630493	NB4	blood:	n/a	n/a
21	POLR2A	chr7:6629317-6630667	MCF10A-Er-Src	breast:	n/a	n/a
22	PML	chr7:6629524-6629690	GM12878	blood:	n/a	n/a
23	CEBPB	chr7:6629404-6629720	Hela-S3	cervix:	n/a	n/a
24	MYBL2	chr7:6629331-6629852	HepG2	liver:	n/a	n/a
25	ELK1	chr7:6629519-6630135	Hela-S3	cervix:	n/a	n/a
26	RFX5	chr7:6629424-6630453	Hela-S3	cervix:	n/a	n/a
27	ETS1	chr7:6629434-6630072	K562	blood:	n/a	chr7:6629521-6629532 chr7:6629869-6629878 chr7:6629870-6629880
28	TAF1	chr7:6629350-6630016	SK-N-SH	brain:	n/a	n/a
29	MYC	chr7:6629434-6630004	K562	blood:	n/a	n/a
30	TEAD4	chr7:6629397-6629704	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBL1XR1	chr7:6629455-6629738	K562	blood:	n/a	n/a
32	POLR2A	chr7:6629078-6630303	PANC-1	pancreas:	n/a	n/a
33	RAD21	chr7:6629387-6629763	K562	blood:	n/a	chr7:6629579-6629592 chr7:6629573-6629583 chr7:6629686-6629700 chr7:6629571-6629584 chr7:6629568-6629587 chr7:6629676-6629690
34	NANOG	chr7:6629424-6630042	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr7:6629242-6629948	H1-hESC	embryonic stem cell:	n/a	chr7:6629561-6629571
36	MAX	chr7:6629369-6630349	ECC-1	luminal epithelium:	n/a	n/a
37	ELF1	chr7:6629412-6629704	HepG2	liver:	n/a	n/a
38	TCF3	chr7:6629447-6629781	GM12878	blood:	n/a	n/a
39	ZKSCAN1	chr7:6629423-6629756	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:6629389-6630128	A549	lung:	n/a	n/a
41	YY1	chr7:6629398-6629983	K562	blood:	n/a	chr7:6629733-6629747 chr7:6629798-6629812 chr7:6629603-6629617 chr7:6629698-6629707 chr7:6629779-6629790 chr7:6629523-6629532
42	EP300	chr7:6629372-6629800	HepG2	liver:	n/a	chr7:6629676-6629692 chr7:6629561-6629577 chr7:6629698-6629707 chr7:6629621-6629637 chr7:6629514-6629530 chr7:6629680-6629696
43	GTF2F1	chr7:6629470-6630007	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr7:6629346-6630028	GM12891	blood:	n/a	chr7:6629733-6629747 chr7:6629798-6629812 chr7:6629603-6629617 chr7:6629698-6629707 chr7:6629779-6629790 chr7:6629523-6629532
45	CREB1	chr7:6629329-6630096	A549	lung:	n/a	n/a
46	MYC	chr7:6629344-6630231	A549	lung:	n/a	n/a
47	YY1	chr7:6629383-6629985	ECC-1	luminal epithelium:	n/a	chr7:6629733-6629747 chr7:6629798-6629812 chr7:6629603-6629617 chr7:6629698-6629707 chr7:6629779-6629790 chr7:6629523-6629532
48	MAX	chr7:6629266-6630353	A549	lung:	n/a	n/a
49	POLR2A	chr7:6629372-6630253	K562	blood:	n/a	n/a
50	USF2	chr7:6629498-6629696	Hela-S3	cervix:	n/a	chr7:6629677-6629693 chr7:6629672-6629688

No.	Distal block	Cell Line	Cell type
1	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
2	chr7:6621445..6626175-chr7:6626576..6631235,7	MCF-7	breast:
3	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
4	chr17:80250434..80250943-chr7:6629426..6630149,2	HCT-116	colon:
5	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
6	chr15:65809298..65809966-chr7:6629671..6630439,2	Hela-S3	cervix:
7	chr7:6627960..6631587-chr7:6636185..6643600,9	MCF-7	breast:
8	chr7:6628303..6631132-chr7:6637511..6639950,2	K562	blood:
9	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
10	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
11	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
12	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
13	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
14	chr7:6523333..6525416-chr7:6628158..6630053,2	K562	blood:
15	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
16	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000232581	TF binding region
ENSG00000265692	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000074603	Chromatin interaction
ENSG00000164631	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000236609	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000136247	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
4	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	esv3381818	chr7:6628877-6630925	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
3	chr7:6625000-6629800	Weak transcription	Fetal Kidney	kidney
4	chr7:6625000-6629800	Weak transcription	NHDF-Ad	bronchial
5	chr7:6628600-6630400	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:6629000-6629800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:6629000-6630400	Active TSS	Brain Germinal Matrix	brain
8	chr7:6629000-6630600	Active TSS	Osteobl	bone
9	chr7:6629000-6630800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:6629000-6631000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:6629200-6630400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6629200-6630400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:6629200-6630400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:6629200-6630400	Active TSS	Colon Smooth Muscle	Colon
15	chr7:6629200-6630400	Active TSS	Fetal Brain Female	brain
16	chr7:6629200-6630400	Active TSS	Hela-S3	cervix
17	chr7:6629200-6630600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:6629200-6630600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:6629200-6630600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:6629200-6630600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:6629200-6630800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:6629200-6630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:6629200-6630800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:6629200-6630800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:6629200-6630800	Active TSS	NHLF	lung
26	chr7:6629400-6629800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:6629400-6629800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:6629400-6630000	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:6629400-6630000	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:6629400-6630000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:6629400-6630000	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr7:6629400-6630000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:6629400-6630000	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:6629400-6630000	Weak transcription	Fetal Brain Male	brain
35	chr7:6629400-6630000	Active TSS	Right Ventricle	heart
36	chr7:6629400-6630000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:6629400-6630200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:6629400-6630200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:6629400-6630200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr7:6629400-6630200	Active TSS	Primary B cells from peripheral blood	blood
41	chr7:6629400-6630200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:6629400-6630200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:6629400-6630200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:6629400-6630200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr7:6629400-6630200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:6629400-6630200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:6629400-6630200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:6629400-6630200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr7:6629400-6630200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:6629400-6630200	Active TSS	Adipose Nuclei	Adipose

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