Variant report

Variant	rs200925347
Chromosome Location	chr7:101459335-101459336
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	CTCF	chr7:101457412-101459603	A549	lung:	n/a	chr7:101457575-101457593 chr7:101458936-101458949 chr7:101458934-101458952
2	TBL1XR1	chr7:101459168-101459381	K562	blood:	n/a	n/a
3	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
4	RCOR1	chr7:101457339-101459438	K562	blood:	n/a	n/a
5	POLR2A	chr7:101459067-101459432	PFSK-1	brain:	n/a	n/a
6	CTCF	chr7:101459123-101459366	GM12892	blood:	n/a	n/a
7	RAD21	chr7:101458765-101459380	H1-hESC	embryonic stem cell:	n/a	chr7:101458932-101458951 chr7:101458924-101458936
8	E2F4	chr7:101459145-101459365	MCF10A-Er-Src	breast:	n/a	chr7:101459220-101459229 chr7:101459194-101459204 chr7:101459191-101459201 chr7:101459221-101459228
9	RAD21	chr7:101458580-101459449	H1-hESC	embryonic stem cell:	n/a	chr7:101458932-101458951 chr7:101458924-101458936
10	CTCF	chr7:101459240-101459390	HPF	lung:	n/a	n/a
11	CTCF	chr7:101459091-101459383	K562	blood:	n/a	n/a
12	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
13	CTCF	chr7:101459200-101459350	HMEC	breast:	n/a	n/a
14	FOXA2	chr7:101459096-101459460	A549	lung:	n/a	n/a
15	YY1	chr7:101459084-101459660	GM12892	blood:	n/a	chr7:101459539-101459550 chr7:101459193-101459207 chr7:101459193-101459202 chr7:101459621-101459635 chr7:101459191-101459205 chr7:101459194-101459208 chr7:101459618-101459632 chr7:101459608-101459616 chr7:101459626-101459635 chr7:101459196-101459205 chr7:101459602-101459621 chr7:101459190-101459204 chr7:101459597-101459619 chr7:101459191-101459202 chr7:101459190-101459199
16	CTCF	chr7:101459131-101459351	MCF-7	breast:	n/a	n/a
17	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
18	CTCF	chr7:101459220-101459370	RPTEC	kidney:	n/a	n/a
19	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
20	CTCF	chr7:101459146-101459339	MCF-7	breast:	n/a	n/a
21	TAF1	chr7:101459039-101459500	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:101458968-101459644	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr7:101459164-101459413	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr7:101459113-101459433	K562	blood:	n/a	n/a
25	CTCF	chr7:101459161-101459346	GM13977	blood:	n/a	n/a
26	TCF3	chr7:101459055-101459367	GM12878	blood:	n/a	n/a
27	YY1	chr7:101459053-101459654	HepG2	liver:	n/a	chr7:101459539-101459550 chr7:101459193-101459207 chr7:101459193-101459202 chr7:101459621-101459635 chr7:101459191-101459205 chr7:101459194-101459208 chr7:101459618-101459632 chr7:101459608-101459616 chr7:101459626-101459635 chr7:101459196-101459205 chr7:101459602-101459621 chr7:101459190-101459204 chr7:101459597-101459619 chr7:101459191-101459202 chr7:101459190-101459199
28	POLR2A	chr7:101459103-101459461	U87	brain:	n/a	n/a
29	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
30	HNF4G	chr7:101459074-101459432	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:101459156-101459419	GM12892	blood:	n/a	n/a
32	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
33	IRF1	chr7:101458895-101459447	K562	blood:	n/a	n/a
34	POLR2A	chr7:101459071-101459547	HCT-116	colon:	n/a	n/a
35	MYC	chr7:101459170-101459405	HepG2	liver:	n/a	n/a
36	RAD21	chr7:101459090-101459400	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr7:101459113-101459342	GM10266	blood:	n/a	n/a
38	CTCF	chr7:101459200-101459350	HRPEpiC	eye:	n/a	n/a
39	JUND	chr7:101459061-101459406	H1-hESC	embryonic stem cell:	n/a	chr7:101459227-101459236 chr7:101459209-101459223
40	POLR2A	chr7:101459219-101459404	GM12891	blood:	n/a	n/a
41	CTCF	chr7:101459200-101459350	HAc	cerebellar:	n/a	n/a
42	CTCF	chr7:101459111-101459379	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr7:101459072-101459689	GM12892	blood:	n/a	chr7:101459539-101459550 chr7:101459193-101459207 chr7:101459193-101459202 chr7:101459621-101459635 chr7:101459191-101459205 chr7:101459194-101459208 chr7:101459618-101459632 chr7:101459608-101459616 chr7:101459626-101459635 chr7:101459196-101459205 chr7:101459602-101459621 chr7:101459190-101459204 chr7:101459597-101459619 chr7:101459191-101459202 chr7:101459190-101459199
44	POLR2A	chr7:101459154-101459435	U87	brain:	n/a	n/a
45	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
46	POLR2A	chr7:101458114-101459617	K562	blood:	n/a	n/a
47	POLR2A	chr7:101459234-101459423	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:101459061-101459417	A549	lung:	n/a	n/a
49	POLR2A	chr7:101458251-101460393	GM18951	blood:	n/a	n/a
50	CUX1	chr7:101459139-101459734	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101459292-101459342	PANC-1	pancreas:	n/a
2	chr7:101459330-101459380	AG09309	skin:	n/a
3	chr7:101459292-101459342	HCM	heart:	n/a
4	chr7:101459330-101459380	NT2-D1	testis:	n/a
5	chr7:101459292-101459342	NB4	blood:	n/a
6	chr7:101459330-101459380	Hela-S3	cervix:	n/a
7	chr7:101459330-101459380	HL-60	blood:	n/a
8	chr7:101459292-101459342	HMEC	breast:	n/a
9	chr7:101459292-101459342	H1-hESC	embryonic stem cell:	embryo
10	chr7:101459292-101459342	HCF	heart:	n/a
11	chr7:101459330-101459380	AoSMC	blood vessel:	n/a
12	chr7:101459330-101459380	Hepatocyte	liver:	n/a
13	chr7:101459292-101459342	GM12878	blood:	n/a
14	chr7:101459330-101459380	SK-N-SH_RA	brain:	n/a
15	chr7:101459292-101459342	SK-N-MC	brain:	n/a
16	chr7:101459292-101459342	SK-N-SH	brain:	n/a
17	chr7:101459330-101459380	RPTEC	kidney:	n/a
18	chr7:101459292-101459342	AG04449	skin:	fetal
19	chr7:101459330-101459380	HCPEpiC	choroid plexus:	n/a
20	chr7:101459292-101459342	Caco-2	colon:	n/a
21	chr7:101459330-101459380	PFSK-1	brain:	n/a
22	chr7:101459292-101459342	HUVEC	blood vessel:	n/a
23	chr7:101459330-101459380	HAEpiC	amniotic membrane:	n/a
24	chr7:101459292-101459342	T-47D	breast:	n/a
25	chr7:101459330-101459380	HCF	heart:	n/a
26	chr7:101459330-101459380	GM12891	blood:	n/a
27	chr7:101459292-101459342	CMK	blood:	n/a
28	chr7:101459292-101459342	HRCEpiC	kidney:	n/a
29	chr7:101459330-101459380	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:101459292-101459342	AoSMC	blood vessel:	n/a
31	chr7:101459292-101459342	GM12891	blood:	n/a
32	chr7:101459330-101459380	NB4	blood:	n/a
33	chr7:101459292-101459342	BJ	skin:	n/a
34	chr7:101459330-101459380	HRCEpiC	kidney:	n/a
35	chr7:101459330-101459380	GM12892	blood:	n/a
36	chr7:101459292-101459342	AG09319	gingival:	n/a
37	chr7:101459330-101459380	HNPCEpiC	eye:	n/a
38	chr7:101459292-101459342	AG10803	skin:	n/a
39	chr7:101459292-101459342	PrEC	prostate:	n/a
40	chr7:101459330-101459380	HCM	heart:	n/a
41	chr7:101459292-101459342	HCPEpiC	choroid plexus:	n/a
42	chr7:101459330-101459380	ProgFib	skin:	n/a
43	chr7:101459292-101459342	MCF10A-Er-Src	breast:	n/a
44	chr7:101459330-101459380	IMR90	lung:	fetal
45	chr7:101459330-101459380	NHBE	bronchial:	n/a
46	chr7:101459292-101459342	HRPEpiC	eye:	n/a
47	chr7:101459330-101459380	HepG2	liver:	n/a
48	chr7:101459292-101459342	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:101459330-101459380	ECC-1	luminal epithelium:	n/a
50	chr7:101459330-101459380	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
2	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
3	chr15:52469891..52472535-chr7:101457623..101459859,2	MCF-7	breast:
4	chr13:48611688..48613332-chr7:101457559..101460225,2	MCF-7	breast:
5	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
6	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
7	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
8	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
9	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
10	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
11	chr16:2818449..2821278-chr7:101459206..101460777,2	MCF-7	breast:
12	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
13	chr2:207024339..207026427-chr7:101458417..101459962,2	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000106436	Chromatin interaction
ENSG00000226648	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000167978	Chromatin interaction
ENSG00000265345	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000114942	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000265864	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000124181	Chromatin interaction
ENSG00000259294	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv824245	chr7:101455132-101461951	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
11	esv20678	chr7:101457194-101460796	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	esv3396517	chr7:101457757-101461105	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
13	nsv824246	chr7:101457830-101461416	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	esv3388804	chr7:101458232-101461980	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
16	esv3338355	chr7:101458232-101462630	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
17	esv3440906	chr7:101458857-101461405	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 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	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
4	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
6	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
10	chr7:101457000-101461400	Active TSS	Ovary	ovary
11	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
12	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
14	chr7:101457200-101459400	Active TSS	A549	lung
15	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
20	chr7:101457200-101461000	Active TSS	Thymus	Thymus
21	chr7:101457200-101461200	Active TSS	Aorta	Aorta
22	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:101457200-101461800	Active TSS	Right Atrium	heart
26	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
27	chr7:101457400-101460800	Active TSS	Spleen	Spleen
28	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
29	chr7:101457400-101461000	Active TSS	Lung	lung
30	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:101457400-101461200	Active TSS	Gastric	stomach
32	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
33	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
34	chr7:101457400-101461400	Active TSS	NHLF	lung
35	chr7:101457600-101459400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr7:101457600-101459400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:101457600-101459400	Active TSS	Brain Substantia Nigra	brain
38	chr7:101457600-101459400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr7:101457600-101461400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:101457800-101459400	Active TSS	Stomach Mucosa	stomach
42	chr7:101458000-101459400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:101458000-101459600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:101458000-101460800	Active TSS	Psoas Muscle	Psoas
45	chr7:101458200-101460600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:101458200-101461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:101458200-101461000	Active TSS	Primary T cells from cord blood	blood
48	chr7:101458200-101461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:101458200-101461000	Active TSS	Duodenum Mucosa	Duodenum
50	chr7:101458200-101461400	Active TSS	Fetal Intestine Small	intestine

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