Variant report

Variant	rs189896787
Chromosome Location	chr7:97601629-97601630
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	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	POLR2A	chr7:97601435-97601802	HepG2	liver:	n/a	n/a
12	CTCF	chr7:97601535-97601958	MCF-7	breast:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
13	POLR2A	chr7:97600705-97602056	GM12878	blood:	n/a	n/a
14	ZNF384	chr7:97601523-97601950	K562	blood:	n/a	n/a
15	CCNT2	chr7:97601322-97601833	K562	blood:	n/a	n/a
16	POLR2A	chr7:97600861-97601935	K562	blood:	n/a	n/a
17	STAT1	chr7:97601491-97601858	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:97600824-97602087	GM15510	blood:	n/a	n/a
19	POLR2A	chr7:97601184-97602024	K562	blood:	n/a	n/a
20	MAX	chr7:97601427-97601994	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:97601435-97601802	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr7:97601363-97601874	K562	blood:	n/a	n/a
23	CTCF	chr7:97601530-97601859	K562	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
24	USF1	chr7:97601529-97601780	SK-N-SH_RA	brain:	n/a	n/a
25	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
26	CTCF	chr7:97601600-97601750	RPTEC	kidney:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
27	POLR2A	chr7:97601147-97601986	HCT-116	colon:	n/a	n/a
28	SIN3AK20	chr7:97601559-97601887	A549	lung:	n/a	n/a
29	YY1	chr7:97601235-97601864	HepG2	liver:	n/a	chr7:97601428-97601442 chr7:97601388-97601402 chr7:97601308-97601319 chr7:97601428-97601437 chr7:97601388-97601397
30	CTCF	chr7:97601620-97601770	HMEC	breast:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
31	POLR2A	chr7:97601281-97602006	H1-neurons	neurons:	n/a	n/a
32	MAX	chr7:97601321-97601809	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr7:97600807-97602119	MCF-7	breast:	n/a	n/a
34	MAZ	chr7:97601358-97601855	HepG2	liver:	n/a	n/a
35	ELF1	chr7:97601352-97601982	A549	lung:	n/a	chr7:97601639-97601648 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
36	TAF1	chr7:97601397-97602007	A549	lung:	n/a	n/a
37	CTCF	chr7:97601620-97601770	AG04450	lung:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
38	CTCF	chr7:97601620-97601770	MCF-7	breast:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
39	POLR2A	chr7:97600777-97601981	K562	blood:	n/a	n/a
40	CTCF	chr7:97601559-97601823	HepG2	liver:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
41	POLR2A	chr7:97601247-97601912	GM10847	blood:	n/a	n/a
42	POU2F2	chr7:97601471-97602122	GM12891	blood:	n/a	n/a
43	MXI1	chr7:97600781-97602009	GM12878	blood:	n/a	n/a
44	MYC	chr7:97600816-97601797	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr7:97601607-97601823	K562	blood:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
46	CTCF	chr7:97601597-97601824	Spleen_OC	spleen:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
47	CTCF	chr7:97601600-97601750	NHDF-neo	bronchial:	n/a	chr7:97601700-97601721 chr7:97601706-97601722 chr7:97601705-97601723
48	MYC	chr7:97601551-97601754	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:97601371-97601896	GM12892	blood:	n/a	n/a
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:97601586-97601636	HCT-116	colon:	n/a
2	chr7:97601586-97601636	SK-N-SH	brain:	n/a
3	chr7:97601586-97601636	HPAEpiC	pulmonary alveolar:	n/a
4	chr7:97601586-97601636	IMR90	lung:	fetal
5	chr7:97601586-97601636	AG10803	skin:	n/a
6	chr7:97601586-97601636	HRPEpiC	eye:	n/a
7	chr7:97601586-97601636	AG09309	skin:	n/a
8	chr7:97601586-97601636	HMEC	breast:	n/a
9	chr7:97601586-97601636	BJ	skin:	n/a
10	chr7:97601586-97601636	SK-N-MC	brain:	n/a
11	chr7:97601586-97601636	AG04450	lung:	fetal
12	chr7:97601586-97601636	A549	lung:	n/a
13	chr7:97601586-97601636	U87	brain:	n/a
14	chr7:97601586-97601636	HL-60	blood:	n/a
15	chr7:97601586-97601636	Hepatocyte	liver:	n/a
16	chr7:97601586-97601636	PFSK-1	brain:	n/a
17	chr7:97601586-97601636	GM12878	blood:	n/a
18	chr7:97601586-97601636	T-47D	breast:	n/a
19	chr7:97601586-97601636	HRE	kidney:	n/a
20	chr7:97601586-97601636	Caco-2	colon:	n/a
21	chr7:97601586-97601636	HCF	heart:	n/a
22	chr7:97601586-97601636	NT2-D1	testis:	n/a
23	chr7:97601586-97601636	HEK293	kidney:	embryo
24	chr7:97601586-97601636	ProgFib	skin:	n/a
25	chr7:97601586-97601636	HCPEpiC	choroid plexus:	n/a
26	chr7:97601586-97601636	H1-hESC	embryonic stem cell:	embryo
27	chr7:97601586-97601636	PANC-1	pancreas:	n/a
28	chr7:97601586-97601636	BE2_C	brain:	n/a
29	chr7:97601586-97601636	GM12892	blood:	n/a
30	chr7:97601586-97601636	HCM	heart:	n/a
31	chr7:97601586-97601636	HIPEpiC	eye:	n/a
32	chr7:97601586-97601636	NHBE	bronchial:	n/a
33	chr7:97601586-97601636	NHDF-neo	bronchial:	n/a
34	chr7:97601586-97601636	NH-A	brain:	n/a
35	chr7:97601586-97601636	SK-N-SH_RA	brain:	n/a
36	chr7:97601586-97601636	Jurkat	blood:	n/a
37	chr7:97601586-97601636	HUVEC	blood vessel:	n/a
38	chr7:97601586-97601636	HAEpiC	amniotic membrane:	n/a
39	chr7:97601586-97601636	GM12891	blood:	n/a
40	chr7:97601586-97601636	HRCEpiC	kidney:	n/a
41	chr7:97601586-97601636	AG04449	skin:	fetal
42	chr7:97601586-97601636	ECC-1	luminal epithelium:	n/a
43	chr7:97601586-97601636	SAEC	small airway:	n/a
44	chr7:97601586-97601636	MCF-7	breast:	n/a
45	chr7:97601586-97601636	AoSMC	blood vessel:	n/a
46	chr7:97601586-97601636	GM19239	blood:	n/a
47	chr7:97601586-97601636	MCF10A-Er-Src	breast:	n/a
48	chr7:97601586-97601636	Hela-S3	cervix:	n/a
49	chr7:97601586-97601636	K562	blood:	n/a
50	chr7:97601586-97601636	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97591972..97594579-chr7:97599900..97601644,2	MCF-7	breast:
2	chr7:97596068..97599027-chr7:97601330..97603299,2	K562	blood:
3	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
4	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:
5	chr7:97592453..97595469-chr7:97599396..97602015,3	K562	blood:
6	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
7	chr7:97595673..97597568-chr7:97600883..97603299,2	K562	blood:
8	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97600200-97601800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:97600200-97602200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:97600200-97602200	Active TSS	HSMMtube	muscle
4	chr7:97600200-97602400	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:97600200-97602800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:97600400-97601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97600400-97601800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr7:97600400-97601800	Active TSS	NHEK	skin
9	chr7:97600400-97602000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:97600400-97602000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:97600400-97602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:97600400-97602200	Active TSS	Thymus	Thymus
13	chr7:97600400-97602200	Active TSS	HSMM	muscle
14	chr7:97600400-97602200	Active TSS	Osteobl	bone
15	chr7:97600400-97602600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:97600400-97602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:97600400-97602800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:97600400-97602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:97600600-97601800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:97600600-97601800	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr7:97600600-97601800	Active TSS	Lung	lung
22	chr7:97600600-97602000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:97600600-97602000	Active TSS	Colon Smooth Muscle	Colon
24	chr7:97600600-97602000	Active TSS	Esophagus	oesophagus
25	chr7:97600600-97602000	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:97600600-97602000	Active TSS	K562	blood
27	chr7:97600600-97602000	Active TSS	NH-A	brain
28	chr7:97600600-97602200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:97600600-97602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:97600600-97602200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:97600600-97602200	Active TSS	Left Ventricle	heart
32	chr7:97600600-97602200	Active TSS	Psoas Muscle	Psoas
33	chr7:97600600-97602200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:97600600-97602200	Active TSS	NHLF	lung
35	chr7:97600600-97602600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr7:97600600-97602600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:97600600-97602600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:97600600-97602600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:97600600-97602600	Active TSS	Pancreas	Pancrea
40	chr7:97600600-97602600	Active TSS	A549	lung
41	chr7:97600600-97602600	Active TSS	GM12878-XiMat	blood
42	chr7:97600600-97602600	Active TSS	Hela-S3	cervix
43	chr7:97600600-97602800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:97600600-97602800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:97600800-97601800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:97600800-97601800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:97600800-97601800	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:97600800-97601800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:97600800-97601800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr7:97600800-97601800	Active TSS	Duodenum Mucosa	Duodenum

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