Variant report

Variant	rs545246449
Chromosome Location	chr7:101461090-101461091
allele	A/C
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	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
2	MAX	chr7:101460130-101461287	K562	blood:	n/a	n/a
3	MAX	chr7:101460760-101461238	K562	blood:	n/a	n/a
4	WRNIP1	chr7:101461077-101461297	GM12878	blood:	n/a	n/a
5	RFX5	chr7:101460864-101461352	Hela-S3	cervix:	n/a	n/a
6	ZNF143	chr7:101460804-101461210	GM12878	blood:	n/a	chr7:101460819-101460829
7	GATA2	chr7:101460987-101461360	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:101460136-101461156	ECC-1	luminal epithelium:	n/a	chr7:101460685-101460693 chr7:101460799-101460806
9	ZMIZ1	chr7:101461031-101461302	K562	blood:	n/a	n/a
10	SMC3	chr7:101460913-101461348	Hela-S3	cervix:	n/a	n/a
11	TCF12	chr7:101460620-101461225	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr7:101460312-101461370	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr7:101460921-101461489	MCF10A-Er-Src	breast:	n/a	n/a
14	TBP	chr7:101460912-101461343	K562	blood:	n/a	n/a
15	CTCF	chr7:101460980-101461130	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr7:101460743-101461235	HL-60	blood:	n/a	n/a
17	MYC	chr7:101460509-101461389	NB4	blood:	n/a	n/a
18	MAX	chr7:101460651-101461179	ECC-1	luminal epithelium:	n/a	n/a
19	EBF1	chr7:101460611-101461306	GM12878	blood:	n/a	chr7:101461090-101461100 chr7:101461089-101461100
20	BHLHE40	chr7:101460385-101461244	GM12878	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
21	CTCF	chr7:101460960-101461110	GM12867	blood:	n/a	n/a
22	RCOR1	chr7:101461021-101461265	K562	blood:	n/a	n/a
23	REST	chr7:101461056-101461201	K562	blood:	n/a	n/a
24	HEY1	chr7:101460706-101461260	K562	blood:	n/a	chr7:101460873-101460888 chr7:101460862-101460871
25	CTCF	chr7:101460960-101461110	GM12873	blood:	n/a	n/a
26	ZBTB7A	chr7:101460988-101461134	HepG2	liver:	n/a	n/a
27	MAX	chr7:101460708-101461277	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:101461000-101461150	HPF	lung:	n/a	n/a
29	MAZ	chr7:101460372-101461199	GM12878	blood:	n/a	n/a
30	CTCF	chr7:101461000-101461150	GM12873	blood:	n/a	n/a
31	MAX	chr7:101460656-101461314	A549	lung:	n/a	n/a
32	CTCF	chr7:101461000-101461150	HEEpiC	esophagus:	n/a	n/a
33	BHLHE40	chr7:101460410-101461301	K562	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
34	TEAD4	chr7:101460867-101461530	K562	blood:	n/a	n/a
35	CTCF	chr7:101461000-101461150	GM12864	blood:	n/a	n/a
36	SMC3	chr7:101460941-101461214	K562	blood:	n/a	n/a
37	ZKSCAN1	chr7:101460901-101461105	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr7:101460391-101461248	Hela-S3	cervix:	n/a	n/a
39	MAX	chr7:101460430-101461254	NB4	blood:	n/a	n/a
40	CEBPB	chr7:101461019-101461526	K562	blood:	n/a	n/a
41	RAD21	chr7:101461005-101461467	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr7:101460895-101461380	K562	blood:	n/a	n/a
43	MYC	chr7:101460791-101461358	K562	blood:	n/a	n/a
44	CTCF	chr7:101461000-101461150	AG04450	lung:	n/a	n/a
45	CTCF	chr7:101460980-101461130	GM12868	blood:	n/a	n/a
46	NR2F2	chr7:101460266-101461476	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:101458228-101461258	K562	blood:	n/a	n/a
48	CTCF	chr7:101461000-101461150	HEK293	kidney:	n/a	n/a
49	TFAP2A	chr7:101459939-101461184	Hela-S3	cervix:	n/a	chr7:101460583-101460595 chr7:101460231-101460239 chr7:101460680-101460688 chr7:101460679-101460691 chr7:101460230-101460238 chr7:101460527-101460538 chr7:101460679-101460691 chr7:101460527-101460538 chr7:101460679-101460691 chr7:101460231-101460239 chr7:101460680-101460688 chr7:101460230-101460238 chr7:101460794-101460806 chr7:101460230-101460238 chr7:101460231-101460239 chr7:101460527-101460539 chr7:101460680-101460688 chr7:101460583-101460595 chr7:101460527-101460538 chr7:101460583-101460595 chr7:101460679-101460691
50	CHD2	chr7:101460673-101461270	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
2	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
3	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
4	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000259294	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000206737	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	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
12	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
13	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
14	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
15	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
16	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
17	esv3424172	chr7:101459457-101462005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 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	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
4	chr7:101457000-101461400	Active TSS	Ovary	ovary
5	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
6	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
8	chr7:101457200-101461200	Active TSS	Aorta	Aorta
9	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:101457200-101461800	Active TSS	Right Atrium	heart
13	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
14	chr7:101457400-101461200	Active TSS	Gastric	stomach
15	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
16	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
17	chr7:101457400-101461400	Active TSS	NHLF	lung
18	chr7:101457600-101461400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:101458200-101461400	Active TSS	Fetal Intestine Small	intestine
21	chr7:101458200-101461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:101458400-101461200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:101458400-101461200	Weak transcription	Fetal Heart	heart
24	chr7:101458400-101461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:101458400-101461600	Active TSS	GM12878-XiMat	blood
26	chr7:101458400-101461800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:101458600-101461200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:101458600-101461600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:101458600-101461600	Active TSS	HepG2	liver
30	chr7:101458600-101461800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:101458800-101461200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:101458800-101461200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:101458800-101461200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:101458800-101461200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:101458800-101461200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:101458800-101461200	Active TSS	Pancreas	Pancrea
37	chr7:101458800-101461200	Active TSS	HSMM	muscle
38	chr7:101458800-101461400	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr7:101460200-101461200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:101460200-101461200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:101460200-101461200	Active TSS	Brain Substantia Nigra	brain
42	chr7:101460200-101461200	Active TSS	Colon Smooth Muscle	Colon
43	chr7:101460200-101461200	Active TSS	Stomach Mucosa	stomach
44	chr7:101460200-101461400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr7:101460200-101461400	Active TSS	A549	lung
46	chr7:101460200-101461600	Active TSS	Placenta Amnion	Placenta Amnion
47	chr7:101460200-101462200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:101460400-101462000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr7:101460600-101461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:101460600-101461200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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