Variant report

Variant	rs7778350
Chromosome Location	chr7:7216979-7216980
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	FOXA2	chr7:7216302-7217457	HepG2	liver:	n/a	chr7:7216682-7216694
2	POLR2A	chr7:7216899-7217011	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:7216713-7216996	MCF10A-Er-Src	breast:	n/a	n/a
4	GTF2F1	chr7:7216148-7217048	Hela-S3	cervix:	n/a	n/a
5	TCF7L2	chr7:7216771-7217205	HEK293	kidney:	n/a	chr7:7216925-7216939 chr7:7216928-7216938 chr7:7216928-7216937 chr7:7216925-7216939 chr7:7216924-7216940 chr7:7216924-7216940
6	FOS	chr7:7216032-7217293	HUVEC	blood vessel:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
7	RCOR1	chr7:7216122-7217181	HepG2	liver:	n/a	n/a
8	FOSL1	chr7:7215992-7217227	HCT-116	colon:	n/a	chr7:7216254-7216263
9	FOS	chr7:7215976-7217393	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
10	FOXA1	chr7:7216664-7217208	HepG2	liver:	n/a	chr7:7216682-7216694
11	MYBL2	chr7:7216460-7217286	HepG2	liver:	n/a	n/a
12	TCF7L2	chr7:7216666-7217263	PANC-1	pancreas:	n/a	chr7:7216925-7216939 chr7:7216928-7216938 chr7:7216928-7216937 chr7:7216925-7216939 chr7:7216924-7216940 chr7:7216924-7216940
13	MAZ	chr7:7216724-7217112	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:7216830-7217093	HepG2	liver:	n/a	n/a
15	CBX3	chr7:7216575-7217174	HCT-116	colon:	n/a	n/a
16	MAX	chr7:7216015-7217093	Hela-S3	cervix:	n/a	chr7:7216217-7216228
17	FOS	chr7:7215995-7217149	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
18	STAT3	chr7:7216724-7217203	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr7:7216056-7217225	HepG2	liver:	n/a	chr7:7216217-7216228
20	GABPA	chr7:7216630-7217037	A549	lung:	n/a	n/a
21	FOXA1	chr7:7216603-7217071	HepG2	liver:	n/a	chr7:7216682-7216694
22	EP300	chr7:7216640-7217144	Hela-S3	cervix:	n/a	chr7:7216912-7216926 chr7:7217121-7217135
23	MBD4	chr7:7215979-7217231	HepG2	liver:	n/a	n/a
24	JUND	chr7:7216088-7217240	HepG2	liver:	n/a	chr7:7216254-7216263
25	JUN	chr7:7215994-7217118	Hela-S3	cervix:	n/a	chr7:7216254-7216263 chr7:7216912-7216925
26	CEBPB	chr7:7216717-7217160	HepG2	liver:	n/a	chr7:7216911-7216922
27	EP300	chr7:7216542-7217119	HepG2	liver:	n/a	chr7:7216583-7216596 chr7:7216912-7216926
28	YY1	chr7:7216755-7217059	HCT-116	colon:	n/a	n/a
29	STAT3	chr7:7216739-7217363	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr7:7216712-7217061	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:7216758-7217108	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:7216698-7217114	HCT-116	colon:	n/a	n/a
33	POLR2A	chr7:7216727-7217170	HepG2	liver:	n/a	n/a
34	BCL3	chr7:7216521-7217206	A549	lung:	n/a	n/a
35	JUND	chr7:7216595-7217064	A549	lung:	n/a	n/a
36	CHD2	chr7:7216804-7217023	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:7216944-7217022	HUVEC	blood vessel:	n/a	n/a
38	HDAC2	chr7:7216712-7217152	HepG2	liver:	n/a	n/a
39	BRCA1	chr7:7216722-7217364	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr7:7216676-7217179	ECC-1	luminal epithelium:	n/a	chr7:7216911-7216922
41	FOS	chr7:7216052-7217131	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
42	JUND	chr7:7216706-7217037	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr7:7216529-7217338	HCT-116	colon:	n/a	n/a
44	BHLHE40	chr7:7216696-7217109	HepG2	liver:	n/a	n/a
45	JUN	chr7:7216750-7217015	K562	blood:	n/a	chr7:7216912-7216925
46	YY1	chr7:7216785-7217118	HepG2	liver:	n/a	n/a
47	SP1	chr7:7216351-7217195	A549	lung:	n/a	n/a
48	MXI1	chr7:7216102-7217142	HepG2	liver:	n/a	n/a
49	MAFF	chr7:7216758-7217068	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:7216638-7217080	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244167	TF binding region
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57637360	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60248673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60800562	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61458286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7777872	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7800897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803202	1.00[AMR][1000 genomes]
rs7803534	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
18	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7205800-7220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:7205800-7220800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:7211200-7220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:7212000-7220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:7212800-7218800	Strong transcription	Primary B cells from cord blood	blood
6	chr7:7212800-7220800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:7213000-7220400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:7213000-7220400	Weak transcription	Dnd41	blood
9	chr7:7213400-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:7213600-7220800	Enhancers	HMEC	breast
11	chr7:7213800-7217600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:7214000-7217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:7215000-7217000	Enhancers	Primary T cells from cord blood	blood
14	chr7:7215000-7217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:7215000-7217800	Enhancers	Fetal Intestine Large	intestine
16	chr7:7215200-7217200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:7215200-7217600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:7215200-7217800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:7215200-7217800	Enhancers	HSMM	muscle
20	chr7:7215200-7218800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:7215400-7217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:7215400-7217800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:7215400-7218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:7215400-7218800	Enhancers	Hela-S3	cervix
25	chr7:7215400-7218800	Enhancers	Osteobl	bone
26	chr7:7215600-7217000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:7215600-7217000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:7215600-7217200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:7215600-7217200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:7215800-7217000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:7215800-7217000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:7215800-7218400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:7216000-7217000	Enhancers	K562	blood
34	chr7:7216000-7217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:7216000-7218000	Enhancers	Fetal Intestine Small	intestine
36	chr7:7216000-7220800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:7216200-7217000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:7216200-7217200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:7216200-7217400	Enhancers	Fetal Kidney	kidney
40	chr7:7216200-7217400	Flanking Active TSS	A549	lung
41	chr7:7216200-7217600	Enhancers	Stomach Mucosa	stomach
42	chr7:7216400-7217000	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:7216400-7217000	Enhancers	Small Intestine	intestine
44	chr7:7216400-7217000	Enhancers	HSMMtube	muscle
45	chr7:7216400-7217400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:7216400-7217400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:7216400-7217400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:7216600-7217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:7216600-7217600	Weak transcription	Placenta	Placenta
50	chr7:7216600-7218200	Enhancers	NHLF	lung

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