Variant report

Variant	rs539368706
Chromosome Location	chr7:97601823-97601824
allele	A/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	MAX	chr7:97600726-97602151	HepG2	liver:	n/a	n/a
2	CTCF	chr7:97601587-97601852	GM19238	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
3	POLR2A	chr7:97600720-97602143	SK-N-MC	brain:	n/a	n/a
4	GABPA	chr7:97601189-97602120	HL-60	blood:	n/a	chr7:97601413-97601422
5	POLR2A	chr7:97601363-97601902	K562	blood:	n/a	n/a
6	POLR2A	chr7:97601376-97601955	SK-N-MC	brain:	n/a	n/a
7	YY1	chr7:97601360-97601885	SK-N-SH_RA	brain:	n/a	chr7:97601428-97601442 chr7:97601388-97601402 chr7:97601428-97601437 chr7:97601388-97601397
8	FOXA2	chr7:97601481-97601858	A549	lung:	n/a	n/a
9	POLR2A	chr7:97600849-97602249	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:97601231-97602001	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr7:97601535-97601958	MCF-7	breast:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
12	POLR2A	chr7:97600705-97602056	GM12878	blood:	n/a	n/a
13	ZNF384	chr7:97601523-97601950	K562	blood:	n/a	n/a
14	CCNT2	chr7:97601322-97601833	K562	blood:	n/a	n/a
15	POLR2A	chr7:97600861-97601935	K562	blood:	n/a	n/a
16	STAT1	chr7:97601491-97601858	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:97600824-97602087	GM15510	blood:	n/a	n/a
18	POLR2A	chr7:97601184-97602024	K562	blood:	n/a	n/a
19	MAX	chr7:97601427-97601994	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:97601363-97601874	K562	blood:	n/a	n/a
21	CTCF	chr7:97601530-97601859	K562	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
22	REST	chr7:97601293-97602007	A549	lung:	n/a	chr7:97601329-97601349 chr7:97601656-97601666 chr7:97601329-97601343 chr7:97601313-97601323 chr7:97601329-97601349 chr7:97601331-97601341
23	POLR2A	chr7:97601147-97601986	HCT-116	colon:	n/a	n/a
24	SIN3AK20	chr7:97601559-97601887	A549	lung:	n/a	n/a
25	YY1	chr7:97601235-97601864	HepG2	liver:	n/a	chr7:97601428-97601442 chr7:97601388-97601402 chr7:97601308-97601319 chr7:97601428-97601437 chr7:97601388-97601397
26	POLR2A	chr7:97601281-97602006	H1-neurons	neurons:	n/a	n/a
27	SIN3AK20	chr7:97600807-97602119	MCF-7	breast:	n/a	n/a
28	MAZ	chr7:97601358-97601855	HepG2	liver:	n/a	n/a
29	ELF1	chr7:97601352-97601982	A549	lung:	n/a	chr7:97601639-97601648 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
30	TAF1	chr7:97601397-97602007	A549	lung:	n/a	n/a
31	POLR2A	chr7:97600777-97601981	K562	blood:	n/a	n/a
32	CTCF	chr7:97601559-97601823	HepG2	liver:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
33	POLR2A	chr7:97601247-97601912	GM10847	blood:	n/a	n/a
34	POU2F2	chr7:97601471-97602122	GM12891	blood:	n/a	n/a
35	MXI1	chr7:97600781-97602009	GM12878	blood:	n/a	n/a
36	CTCF	chr7:97601607-97601823	K562	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
37	CTCF	chr7:97601597-97601824	Spleen_OC	spleen:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
38	POLR2A	chr7:97601371-97601896	GM12892	blood:	n/a	n/a
39	YY1	chr7:97601229-97601885	SK-N-SH_RA	brain:	n/a	chr7:97601428-97601442 chr7:97601388-97601402 chr7:97601308-97601319 chr7:97601428-97601437 chr7:97601388-97601397
40	CTCF	chr7:97601680-97601830	GM12865	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
41	ELK1	chr7:97601495-97601883	GM12878	blood:	n/a	n/a
42	MXI1	chr7:97600776-97601911	Hela-S3	cervix:	n/a	n/a
43	ELK4	chr7:97601533-97601862	Hela-S3	cervix:	n/a	chr7:97601661-97601672
44	REST	chr7:97601473-97601844	SK-N-SH	brain:	n/a	chr7:97601656-97601666
45	RCOR1	chr7:97601482-97601830	Hela-S3	cervix:	n/a	n/a
46	TCF7L2	chr7:97601218-97601854	PANC-1	pancreas:	n/a	n/a
47	CTCFL	chr7:97601564-97601827	K562	blood:	n/a	n/a
48	POLR2A	chr7:97600857-97601924	K562	blood:	n/a	n/a
49	CTCF	chr7:97601092-97602102	A549	lung:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723 chr7:97601396-97601405
50	PML	chr7:97600729-97602110	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97596068..97599027-chr7:97601330..97603299,2	K562	blood:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:
4	chr7:97592453..97595469-chr7:97599396..97602015,3	K562	blood:
5	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
6	chr7:97595673..97597568-chr7:97600883..97603299,2	K562	blood:
7	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243554	TF binding region
ENSG00000266318	Chromatin interaction
ENSG00000070669	Chromatin interaction
ENSG00000183444	Chromatin interaction
ENSG00000266668	Chromatin interaction
ENSG00000226744	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1844775	chr7:97502740-97606178	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970555	chr7:97502806-97639154	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv981676	chr7:97597487-97608316	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv32764	chr7:97601058-97638993	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2308102	chr7:97601688-97602143	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr7:97600200-97602200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:97600200-97602200	Active TSS	HSMMtube	muscle
3	chr7:97600200-97602400	Active TSS	Stomach Smooth Muscle	stomach
4	chr7:97600200-97602800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:97600400-97602000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:97600400-97602000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:97600400-97602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:97600400-97602200	Active TSS	Thymus	Thymus
9	chr7:97600400-97602200	Active TSS	HSMM	muscle
10	chr7:97600400-97602200	Active TSS	Osteobl	bone
11	chr7:97600400-97602600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:97600400-97602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:97600400-97602800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:97600400-97602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:97600600-97602000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:97600600-97602000	Active TSS	Colon Smooth Muscle	Colon
17	chr7:97600600-97602000	Active TSS	Esophagus	oesophagus
18	chr7:97600600-97602000	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:97600600-97602000	Active TSS	K562	blood
20	chr7:97600600-97602000	Active TSS	NH-A	brain
21	chr7:97600600-97602200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:97600600-97602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:97600600-97602200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:97600600-97602200	Active TSS	Left Ventricle	heart
25	chr7:97600600-97602200	Active TSS	Psoas Muscle	Psoas
26	chr7:97600600-97602200	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr7:97600600-97602200	Active TSS	NHLF	lung
28	chr7:97600600-97602600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:97600600-97602600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:97600600-97602600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:97600600-97602600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:97600600-97602600	Active TSS	Pancreas	Pancrea
33	chr7:97600600-97602600	Active TSS	A549	lung
34	chr7:97600600-97602600	Active TSS	GM12878-XiMat	blood
35	chr7:97600600-97602600	Active TSS	Hela-S3	cervix
36	chr7:97600600-97602800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:97600600-97602800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:97600800-97602000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:97600800-97602000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr7:97600800-97602000	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr7:97600800-97602000	Active TSS	Aorta	Aorta
42	chr7:97600800-97602000	Active TSS	Fetal Intestine Large	intestine
43	chr7:97600800-97602000	Active TSS	Fetal Intestine Small	intestine
44	chr7:97600800-97602000	Active TSS	Fetal Stomach	stomach
45	chr7:97600800-97602000	Active TSS	Gastric	stomach
46	chr7:97600800-97602000	Active TSS	Ovary	ovary
47	chr7:97600800-97602000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:97600800-97602000	Active TSS	Right Atrium	heart
49	chr7:97600800-97602000	Active TSS	Right Ventricle	heart
50	chr7:97600800-97602000	Active TSS	NHDF-Ad	bronchial

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