Variant report

Variant	rs398067100
Chromosome Location	chr7:97735898-97735899
allele	-/AA
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	CTCF	chr7:97735880-97736030	WI-38	lung:	n/a	n/a
2	MAX	chr7:97735859-97736609	H1-hESC	embryonic stem cell:	n/a	chr7:97736174-97736183
3	FOXA2	chr7:97735876-97736446	A549	lung:	n/a	n/a
4	ATF2	chr7:97735863-97736282	GM12878	blood:	n/a	n/a
5	BRCA1	chr7:97735889-97736315	Hela-S3	cervix:	n/a	n/a
6	ATF2	chr7:97735853-97736328	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr7:97735821-97736446	A549	lung:	n/a	chr7:97736172-97736183 chr7:97736049-97736065
8	MAX	chr7:97735833-97736520	ECC-1	luminal epithelium:	n/a	chr7:97736174-97736183
9	JUND	chr7:97735669-97736305	H1-hESC	embryonic stem cell:	n/a	chr7:97735756-97735764
10	TCF12	chr7:97735799-97736557	A549	lung:	n/a	chr7:97736025-97736035 chr7:97736319-97736326 chr7:97736234-97736244
11	HDAC2	chr7:97735811-97736771	MCF-7	breast:	n/a	chr7:97735884-97735898 chr7:97735882-97735896 chr7:97735886-97735900 chr7:97735883-97735897 chr7:97735885-97735899 chr7:97735889-97735903
12	ATF2	chr7:97735798-97736331	GM12878	blood:	n/a	n/a
13	RAD21	chr7:97735841-97736243	SK-N-SH_RA	brain:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
14	POLR2A	chr7:97735857-97736463	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr7:97735738-97736451	HCT-116	colon:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
16	CREB1	chr7:97735864-97736543	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr7:97735856-97736486	IMR90	lung:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
18	PBX3	chr7:97735747-97736685	SK-N-SH	brain:	n/a	chr7:97736129-97736149 chr7:97736142-97736151
19	SIN3AK20	chr7:97735878-97736785	PANC-1	pancreas:	n/a	n/a
20	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
21	SP2	chr7:97735800-97736397	HepG2	liver:	n/a	chr7:97736088-97736103 chr7:97736128-97736151 chr7:97736155-97736170
22	MAZ	chr7:97735667-97736397	Hela-S3	cervix:	n/a	chr7:97736174-97736183
23	POLR2A	chr7:97735883-97736656	MCF-7	breast:	n/a	n/a
24	TBP	chr7:97735859-97736315	GM12878	blood:	n/a	n/a
25	USF1	chr7:97735782-97736619	HCT-116	colon:	n/a	chr7:97736172-97736183 chr7:97736049-97736065 chr7:97736460-97736476
26	RAD21	chr7:97735865-97736323	A549	lung:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
27	HA-E2F1	chr7:97735891-97736455	MCF-7	breast:	n/a	n/a
28	RAD21	chr7:97735868-97736246	H1-hESC	embryonic stem cell:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
29	NFYA	chr7:97735859-97736245	GM12878	blood:	n/a	n/a
30	CTCF	chr7:97735871-97736266	A549	lung:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
31	HDAC2	chr7:97735888-97736341	HepG2	liver:	n/a	chr7:97735889-97735903
32	SP2	chr7:97735786-97736432	HepG2	liver:	n/a	chr7:97736088-97736103 chr7:97736128-97736151 chr7:97736155-97736170
33	CTCF	chr7:97735820-97735970	GM12864	blood:	n/a	n/a
34	JUND	chr7:97735538-97736220	HepG2	liver:	n/a	chr7:97735756-97735764
35	TCF12	chr7:97735887-97736754	ECC-1	luminal epithelium:	n/a	chr7:97736025-97736035 chr7:97736647-97736657 chr7:97736319-97736326 chr7:97736234-97736244
36	CREB1	chr7:97735861-97736885	GM12878	blood:	n/a	n/a
37	YY1	chr7:97735835-97736610	GM12878	blood:	n/a	chr7:97736179-97736201 chr7:97736191-97736201
38	RAD21	chr7:97735802-97736335	H1-hESC	embryonic stem cell:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
39	IRF1	chr7:97735799-97736404	K562	blood:	n/a	chr7:97736092-97736106
40	RAD21	chr7:97735897-97736235	A549	lung:	n/a	chr7:97736051-97736061
41	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
42	YY1	chr7:97735862-97736704	ECC-1	luminal epithelium:	n/a	chr7:97736650-97736661 chr7:97736179-97736201 chr7:97736191-97736201 chr7:97736616-97736627
43	RAD21	chr7:97735840-97736251	GM12878	blood:	n/a	chr7:97736051-97736061 chr7:97736228-97736241
44	FOSL2	chr7:97735808-97736322	A549	lung:	n/a	n/a
45	YY1	chr7:97735832-97736765	K562	blood:	n/a	chr7:97736741-97736752 chr7:97736650-97736661 chr7:97736179-97736201 chr7:97736191-97736201 chr7:97736616-97736627
46	TBP	chr7:97735892-97736580	K562	blood:	n/a	n/a
47	ZNF143	chr7:97735869-97736488	GM12878	blood:	n/a	n/a
48	MAX	chr7:97735892-97736565	NB4	blood:	n/a	chr7:97736174-97736183
49	NFYB	chr7:97735851-97736418	GM12878	blood:	n/a	n/a
50	USF1	chr7:97735826-97736546	SK-N-SH	brain:	n/a	chr7:97736172-97736183 chr7:97736049-97736065 chr7:97736460-97736476

No.	Distal block	Cell Line	Cell type
1	chr19:13049394..13049962-chr7:97735896..97736709,2	Hela-S3	cervix:
2	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:
3	chr20:48807269..48810011-chr7:97735604..97737144,2	MCF-7	breast:

Variant related genes	Relation type
LMTK2	TF binding region
ENSG00000179218	Chromatin interaction
ENSG00000172216	Chromatin interaction
ENSG00000164715	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:65 , 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	chr7:97735200-97736000	Enhancers	Primary T cells from cord blood	blood
5	chr7:97735200-97736000	Enhancers	Fetal Intestine Large	intestine
6	chr7:97735400-97736000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:97735400-97736000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:97735400-97736000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:97735400-97736000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:97735400-97736000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr7:97735400-97736000	Enhancers	Pancreas	Pancrea
12	chr7:97735400-97736000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:97735400-97736000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:97735400-97736000	Flanking Active TSS	Hela-S3	cervix
15	chr7:97735400-97736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:97735600-97736000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:97735600-97736000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr7:97735600-97736000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:97735600-97736000	Enhancers	Adipose Nuclei	Adipose
21	chr7:97735600-97736000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:97735600-97736000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr7:97735600-97736000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:97735600-97736000	Enhancers	Colon Smooth Muscle	Colon
25	chr7:97735600-97736000	Enhancers	Ovary	ovary
26	chr7:97735600-97736000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:97735600-97736000	Enhancers	Stomach Mucosa	stomach
28	chr7:97735600-97736000	Enhancers	A549	lung
29	chr7:97735600-97736000	Flanking Active TSS	Dnd41	blood
30	chr7:97735600-97736000	Flanking Active TSS	NHEK	skin
31	chr7:97735600-97736200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:97735600-97736200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:97735600-97736200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:97735600-97736800	Active TSS	Brain Substantia Nigra	brain
35	chr7:97735600-97737000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:97735600-97737000	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:97735600-97737200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:97735600-97737400	Active TSS	Brain Germinal Matrix	brain
39	chr7:97735800-97736000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:97735800-97736000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:97735800-97736000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr7:97735800-97736000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:97735800-97736000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:97735800-97736000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:97735800-97736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:97735800-97736000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr7:97735800-97736000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr7:97735800-97736000	Flanking Active TSS	HMEC	breast
49	chr7:97735800-97736200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:97735800-97736200	Enhancers	Primary neutrophils fromperipheralblood	blood

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