Variant report

Variant	rs537344830
Chromosome Location	chr7:97735773-97735774
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	JUND	chr7:97735669-97736305	H1-hESC	embryonic stem cell:	n/a	chr7:97735756-97735764
2	CTCF	chr7:97735720-97735870	GM12870	blood:	n/a	n/a
3	CTCF	chr7:97735738-97736451	HCT-116	colon:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
4	PBX3	chr7:97735747-97736685	SK-N-SH	brain:	n/a	chr7:97736129-97736149 chr7:97736142-97736151
5	YY1	chr7:97735741-97736955	SK-N-SH	brain:	n/a	chr7:97736802-97736813 chr7:97736741-97736752 chr7:97736842-97736856 chr7:97736650-97736661 chr7:97736801-97736810 chr7:97736179-97736201 chr7:97736191-97736201 chr7:97736789-97736800 chr7:97736616-97736627
6	CTCF	chr7:97735720-97735870	GM12875	blood:	n/a	n/a
7	CTCF	chr7:97735640-97735790	HL-60	blood:	n/a	n/a
8	MAZ	chr7:97735667-97736397	Hela-S3	cervix:	n/a	chr7:97736174-97736183
9	CTCF	chr7:97735701-97735817	GM10266	blood:	n/a	n/a
10	JUND	chr7:97735538-97736220	HepG2	liver:	n/a	chr7:97735756-97735764
11	EGR1	chr7:97735669-97736623	HCT-116	colon:	n/a	chr7:97736155-97736169 chr7:97736023-97736045 chr7:97736028-97736041 chr7:97736029-97736039 chr7:97736157-97736172 chr7:97736158-97736171 chr7:97736029-97736040 chr7:97736158-97736171 chr7:97736159-97736168 chr7:97736028-97736041 chr7:97736153-97736175 chr7:97736157-97736171 chr7:97736159-97736169 chr7:97736158-97736171 chr7:97736158-97736171 chr7:97736028-97736041 chr7:97736158-97736168
12	CTCF	chr7:97735704-97735807	GM12878	blood:	n/a	n/a
13	ATF1	chr7:97735552-97736368	K562	blood:	n/a	n/a
14	ESRRA	chr7:97735471-97736646	GM12878	blood:	n/a	chr7:97735614-97735627 chr7:97735842-97735860 chr7:97736073-97736086
15	CTCF	chr7:97735735-97736335	GM12878	blood:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
16	CTCF	chr7:97735724-97735783	K562	blood:	n/a	n/a
17	CTCF	chr7:97735718-97735778	GM12891	blood:	n/a	n/a
18	FOS	chr7:97735583-97736287	MCF10A-Er-Src	breast:	n/a	chr7:97735756-97735764
19	CREB1	chr7:97735734-97736801	K562	blood:	n/a	n/a
20	SIN3AK20	chr7:97735710-97737225	MCF-7	breast:	n/a	n/a
21	CREB1	chr7:97735572-97736625	HepG2	liver:	n/a	n/a
22	CTCF	chr7:97735684-97735777	GM19239	blood:	n/a	n/a
23	BHLHE40	chr7:97735606-97736456	HepG2	liver:	n/a	chr7:97736049-97736065
24	CTCF	chr7:97735532-97736660	A549	lung:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
25	CTCF	chr7:97735697-97735795	Gliobla	brain:	n/a	n/a
26	HCFC1	chr7:97735337-97736741	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr7:97735522-97736313	HCT-116	colon:	n/a	chr7:97735696-97735712 chr7:97735699-97735708
28	USF1	chr7:97735440-97736702	HCT-116	colon:	n/a	chr7:97736172-97736183 chr7:97736049-97736065 chr7:97736460-97736476
29	MXI1	chr7:97735466-97736992	HepG2	liver:	n/a	n/a
30	CTCF	chr7:97735690-97735842	GM13977	blood:	n/a	n/a
31	CTCF	chr7:97735705-97735817	GM19240	blood:	n/a	n/a
32	RAD21	chr7:97735753-97736475	A549	lung:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
33	SP1	chr7:97735736-97736612	HCT-116	colon:	n/a	chr7:97736093-97736102 chr7:97736155-97736167 chr7:97736092-97736103 chr7:97736093-97736103 chr7:97736157-97736166 chr7:97736094-97736103 chr7:97736092-97736104 chr7:97736092-97736104 chr7:97736402-97736416
34	MXI1	chr7:97735695-97738425	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr7:97735439-97736632	SK-N-SH	brain:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
36	PBX3	chr7:97735769-97736627	SK-N-SH	brain:	n/a	chr7:97736129-97736149 chr7:97736142-97736151
37	MXI1	chr7:97735513-97736898	IMR90	lung:	n/a	n/a
38	CREB1	chr7:97735770-97736899	HepG2	liver:	n/a	n/a
39	FOXM1	chr7:97735734-97736437	GM12878	blood:	n/a	n/a
40	USF2	chr7:97735431-97736355	Hela-S3	cervix:	n/a	chr7:97736049-97736065 chr7:97736172-97736183
41	MAFK	chr7:97735677-97736376	Hela-S3	cervix:	n/a	n/a
42	GTF2F1	chr7:97735615-97736195	Hela-S3	cervix:	n/a	n/a
43	ZNF143	chr7:97735429-97736271	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr7:97735685-97735803	ProgFib	skin:	n/a	n/a
45	SIN3AK20	chr7:97735747-97736716	HCT-116	colon:	n/a	n/a
46	FOS	chr7:97735545-97736216	MCF10A-Er-Src	breast:	n/a	chr7:97735756-97735764
47	MAX	chr7:97735751-97736666	A549	lung:	n/a	chr7:97736174-97736183
48	ZNF143	chr7:97735576-97736255	K562	blood:	n/a	n/a
49	JUND	chr7:97735569-97736596	K562	blood:	n/a	chr7:97735756-97735764
50	FOS	chr7:97735511-97736216	MCF10A-Er-Src	breast:	n/a	chr7:97735756-97735764

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:
2	chr20:48807269..48810011-chr7:97735604..97737144,2	MCF-7	breast:

Variant related genes	Relation type
LMTK2	TF binding region
ENSG00000164715	Chromatin interaction
ENSG00000172216	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
10	esv3411371	chr7:97735041-97737589	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr7:97733600-97736000	Weak transcription	Right Atrium	heart
2	chr7:97734000-97736000	Enhancers	Fetal Intestine Small	intestine
3	chr7:97734600-97736000	Flanking Active TSS	HepG2	liver
4	chr7:97735200-97735800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:97735200-97736000	Enhancers	Primary T cells from cord blood	blood
6	chr7:97735200-97736000	Enhancers	Fetal Intestine Large	intestine
7	chr7:97735400-97735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:97735400-97735800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:97735400-97735800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:97735400-97735800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:97735400-97735800	Enhancers	Right Ventricle	heart
12	chr7:97735400-97735800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:97735400-97735800	Enhancers	HMEC	breast
14	chr7:97735400-97736000	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:97735400-97736000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:97735400-97736000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:97735400-97736000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:97735400-97736000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr7:97735400-97736000	Enhancers	Pancreas	Pancrea
20	chr7:97735400-97736000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:97735400-97736000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:97735400-97736000	Flanking Active TSS	Hela-S3	cervix
23	chr7:97735400-97736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach
25	chr7:97735600-97735800	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr7:97735600-97735800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr7:97735600-97735800	Enhancers	Esophagus	oesophagus
28	chr7:97735600-97735800	Enhancers	Fetal Heart	heart
29	chr7:97735600-97735800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr7:97735600-97735800	Enhancers	Placenta	Placenta
31	chr7:97735600-97735800	Enhancers	Fetal Thymus	thymus
32	chr7:97735600-97735800	Enhancers	K562	blood
33	chr7:97735600-97736000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:97735600-97736000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr7:97735600-97736000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:97735600-97736000	Enhancers	Adipose Nuclei	Adipose
37	chr7:97735600-97736000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr7:97735600-97736000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:97735600-97736000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:97735600-97736000	Enhancers	Colon Smooth Muscle	Colon
41	chr7:97735600-97736000	Enhancers	Ovary	ovary
42	chr7:97735600-97736000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:97735600-97736000	Enhancers	Stomach Mucosa	stomach
44	chr7:97735600-97736000	Enhancers	A549	lung
45	chr7:97735600-97736000	Flanking Active TSS	Dnd41	blood
46	chr7:97735600-97736000	Flanking Active TSS	NHEK	skin
47	chr7:97735600-97736200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:97735600-97736200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:97735600-97736200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:97735600-97736800	Active TSS	Brain Substantia Nigra	brain

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