Variant report

Variant	rs77400454
Chromosome Location	chr7:97602012-97602013
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	MAX	chr7:97600726-97602151	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:97600720-97602143	SK-N-MC	brain:	n/a	n/a
3	GABPA	chr7:97601189-97602120	HL-60	blood:	n/a	chr7:97601413-97601422
4	POLR2A	chr7:97600849-97602249	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:97600705-97602056	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:97600824-97602087	GM15510	blood:	n/a	n/a
7	POLR2A	chr7:97601184-97602024	K562	blood:	n/a	n/a
8	SIN3AK20	chr7:97600807-97602119	MCF-7	breast:	n/a	n/a
9	POU2F2	chr7:97601471-97602122	GM12891	blood:	n/a	n/a
10	CTCF	chr7:97601092-97602102	A549	lung:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723 chr7:97601396-97601405
11	PML	chr7:97600729-97602110	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr7:97601175-97602039	HCT-116	colon:	n/a	n/a
13	GABPA	chr7:97600731-97602322	MCF-7	breast:	n/a	chr7:97601413-97601422
14	GABPA	chr7:97600885-97602110	A549	lung:	n/a	chr7:97601413-97601422
15	POLR2A	chr7:97601211-97602074	U87	brain:	n/a	n/a
16	POLR2A	chr7:97600914-97602065	PBDE	blood:	n/a	n/a
17	MAX	chr7:97600797-97602073	Hela-S3	cervix:	n/a	n/a
18	NR2C2	chr7:97600847-97602035	Hela-S3	cervix:	n/a	chr7:97601660-97601667 chr7:97601026-97601035
19	E2F6	chr7:97601251-97602110	H1-hESC	embryonic stem cell:	n/a	chr7:97601389-97601399 chr7:97601312-97601322
20	MAX	chr7:97600691-97602185	A549	lung:	n/a	n/a
21	ELF1	chr7:97601251-97602086	SK-N-SH	brain:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
22	GATA3	chr7:97601341-97602022	A549	lung:	n/a	n/a
23	ELF1	chr7:97601124-97602239	GM12878	blood:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
24	GABPA	chr7:97600715-97602186	SK-N-SH	brain:	n/a	chr7:97601413-97601422
25	MAZ	chr7:97601031-97602035	IMR90	lung:	n/a	n/a
26	YY1	chr7:97601054-97602104	SK-N-SH	brain:	n/a	chr7:97601428-97601442 chr7:97601388-97601402 chr7:97601308-97601319 chr7:97601428-97601437 chr7:97601388-97601397
27	CHD2	chr7:97601016-97602094	GM12878	blood:	n/a	n/a
28	MAX	chr7:97601148-97602131	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:97600728-97602048	GM12892	blood:	n/a	n/a
30	FOXM1	chr7:97601353-97602038	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:97600804-97602100	HL-60	blood:	n/a	n/a
32	POLR2A	chr7:97600738-97602059	GM12892	blood:	n/a	n/a
33	ELF1	chr7:97601256-97602139	MCF-7	breast:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
34	SETDB1	chr7:97601208-97602156	K562	blood:	n/a	n/a
35	POLR2A	chr7:97600877-97602032	GM12878	blood:	n/a	n/a
36	GABPA	chr7:97601362-97602027	HL-60	blood:	n/a	chr7:97601413-97601422
37	POLR2A	chr7:97600785-97602154	Raji	blood:	n/a	n/a
38	POLR2A	chr7:97600998-97602029	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr7:97600705-97602094	A549	lung:	n/a	n/a
40	ELF1	chr7:97601233-97602089	HCT-116	colon:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
41	GATA3	chr7:97601495-97602045	T-47D	breast:	n/a	n/a
42	E2F6	chr7:97600781-97602100	K562	blood:	n/a	chr7:97601389-97601399 chr7:97601312-97601322
43	NR2F2	chr7:97601069-97602034	K562	blood:	n/a	n/a
44	GATA2	chr7:97601440-97602133	SH-SY5Y	brain:	n/a	n/a
45	POLR2A	chr7:97600732-97602023	GM12878	blood:	n/a	n/a
46	MAX	chr7:97600695-97602194	K562	blood:	n/a	n/a
47	GATA3	chr7:97601523-97602170	MCF-7	breast:	n/a	n/a
48	SMARCB1	chr7:97600857-97602104	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr7:97600688-97602282	A549	lung:	n/a	chr7:97601413-97601422
50	FOXA2	chr7:97601418-97602026	A549	lung:	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
ENSG00000226744	Chromatin interaction
ENSG00000183444	Chromatin interaction
ENSG00000266668	Chromatin interaction
ENSG00000266318	Chromatin interaction
ENSG00000070669	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:124 , 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	chr7:97600400-97602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:97600400-97602200	Active TSS	Thymus	Thymus
7	chr7:97600400-97602200	Active TSS	HSMM	muscle
8	chr7:97600400-97602200	Active TSS	Osteobl	bone
9	chr7:97600400-97602600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:97600400-97602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:97600400-97602800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:97600400-97602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:97600600-97602200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:97600600-97602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:97600600-97602200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:97600600-97602200	Active TSS	Left Ventricle	heart
17	chr7:97600600-97602200	Active TSS	Psoas Muscle	Psoas
18	chr7:97600600-97602200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr7:97600600-97602200	Active TSS	NHLF	lung
20	chr7:97600600-97602600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr7:97600600-97602600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:97600600-97602600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:97600600-97602600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:97600600-97602600	Active TSS	Pancreas	Pancrea
25	chr7:97600600-97602600	Active TSS	A549	lung
26	chr7:97600600-97602600	Active TSS	GM12878-XiMat	blood
27	chr7:97600600-97602600	Active TSS	Hela-S3	cervix
28	chr7:97600600-97602800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:97600600-97602800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:97600800-97602200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:97600800-97602200	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:97600800-97602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:97600800-97602200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:97600800-97602200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:97600800-97602200	Active TSS	Brain Substantia Nigra	brain
36	chr7:97600800-97602200	Active TSS	Colonic Mucosa	Colon
37	chr7:97600800-97602200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:97600800-97602200	Active TSS	Stomach Mucosa	stomach
39	chr7:97600800-97602200	Active TSS	HUVEC	blood vessel
40	chr7:97600800-97602400	Active TSS	Fetal Kidney	kidney
41	chr7:97600800-97602600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:97600800-97602600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:97600800-97602600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:97600800-97602800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:97600800-97602800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:97601000-97602200	Active TSS	Brain Angular Gyrus	brain
47	chr7:97601000-97602200	Active TSS	Brain Hippocampus Middle	brain
48	chr7:97601000-97602200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:97601000-97602600	Active TSS	Adipose Nuclei	Adipose
50	chr7:97601000-97602600	Active TSS	Brain Anterior Caudate	brain

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