Variant report

Variant	rs572414808
Chromosome Location	chr7:101460877-101460878
allele	C/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	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	RFX5	chr7:101460864-101461352	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr7:101460804-101461210	GM12878	blood:	n/a	chr7:101460819-101460829
6	ZBTB7A	chr7:101460136-101461156	ECC-1	luminal epithelium:	n/a	chr7:101460685-101460693 chr7:101460799-101460806
7	CHD1	chr7:101460514-101460951	GM12878	blood:	n/a	n/a
8	TCF12	chr7:101460620-101461225	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr7:101460565-101461061	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:101460312-101461370	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr7:101460760-101460910	A549	lung:	n/a	n/a
12	MAX	chr7:101460835-101461040	HepG2	liver:	n/a	n/a
13	YY1	chr7:101460653-101461048	GM12892	blood:	n/a	chr7:101460877-101460891 chr7:101460880-101460894
14	POLR2A	chr7:101460743-101461235	HL-60	blood:	n/a	n/a
15	MYC	chr7:101460509-101461389	NB4	blood:	n/a	n/a
16	MAX	chr7:101460651-101461179	ECC-1	luminal epithelium:	n/a	n/a
17	EBF1	chr7:101460611-101461306	GM12878	blood:	n/a	chr7:101461090-101461100 chr7:101461089-101461100
18	BHLHE40	chr7:101460385-101461244	GM12878	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
19	YY1	chr7:101460811-101460972	K562	blood:	n/a	chr7:101460877-101460891 chr7:101460880-101460894
20	HEY1	chr7:101460706-101461260	K562	blood:	n/a	chr7:101460873-101460888 chr7:101460862-101460871
21	POLR2A	chr7:101460332-101460971	A549	lung:	n/a	n/a
22	MAX	chr7:101460708-101461277	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAZ	chr7:101460372-101461199	GM12878	blood:	n/a	n/a
24	MAX	chr7:101460656-101461314	A549	lung:	n/a	n/a
25	BHLHE40	chr7:101460410-101461301	K562	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
26	TEAD4	chr7:101460867-101461530	K562	blood:	n/a	n/a
27	CTCF	chr7:101460820-101460970	HRE	kidney:	n/a	n/a
28	MAZ	chr7:101460391-101461248	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:101460786-101460959	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr7:101460430-101461254	NB4	blood:	n/a	n/a
31	USF1	chr7:101460720-101460974	SK-N-SH_RA	brain:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
32	MYC	chr7:101460791-101461358	K562	blood:	n/a	n/a
33	NR2F2	chr7:101460266-101461476	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:101458228-101461258	K562	blood:	n/a	n/a
35	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
36	CHD2	chr7:101460673-101461270	Hela-S3	cervix:	n/a	n/a
37	UBTF	chr7:101459799-101461331	K562	blood:	n/a	n/a
38	HA-E2F1	chr7:101458629-101461061	Hela-S3	cervix:	n/a	chr7:101459624-101459634 chr7:101460559-101460569 chr7:101460495-101460504 chr7:101460412-101460424 chr7:101459220-101459229 chr7:101459194-101459204 chr7:101460496-101460506 chr7:101460410-101460419 chr7:101460351-101460360 chr7:101460884-101460894 chr7:101459967-101459976 chr7:101459191-101459201 chr7:101459221-101459228
39	SMARCB1	chr7:101460182-101461071	Hela-S3	cervix:	n/a	n/a
40	PAX5	chr7:101460212-101460983	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:101460421-101461330	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr7:101460801-101461054	K562	blood:	n/a	chr7:101460884-101460896
43	TAL1	chr7:101460847-101461433	K562	blood:	n/a	n/a
44	POLR2A	chr7:101460784-101461291	K562	blood:	n/a	n/a
45	ZBTB7A	chr7:101458194-101461209	K562	blood:	n/a	chr7:101459001-101459012 chr7:101460685-101460693 chr7:101460799-101460806 chr7:101458935-101458944 chr7:101458977-101458991
46	POLR2A	chr7:101460644-101460978	MCF-7	breast:	n/a	n/a
47	SIN3A	chr7:101460266-101461229	H1-hESC	embryonic stem cell:	n/a	chr7:101460889-101460902
48	ZBTB7A	chr7:101460831-101461218	K562	blood:	n/a	n/a
49	POLR2A	chr7:101459836-101461417	IMR90	lung:	n/a	n/a
50	MAX	chr7:101460481-101461292	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
ENSG00000257923	Chromatin interaction
ENSG00000259294	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	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
2	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
6	chr7:101457000-101461400	Active TSS	Ovary	ovary
7	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
8	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
10	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
14	chr7:101457200-101461000	Active TSS	Thymus	Thymus
15	chr7:101457200-101461200	Active TSS	Aorta	Aorta
16	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
18	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:101457200-101461800	Active TSS	Right Atrium	heart
20	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
21	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
22	chr7:101457400-101461000	Active TSS	Lung	lung
23	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:101457400-101461200	Active TSS	Gastric	stomach
25	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
26	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
27	chr7:101457400-101461400	Active TSS	NHLF	lung
28	chr7:101457600-101461400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:101458200-101461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:101458200-101461000	Active TSS	Primary T cells from cord blood	blood
32	chr7:101458200-101461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr7:101458200-101461000	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:101458200-101461400	Active TSS	Fetal Intestine Small	intestine
35	chr7:101458200-101461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:101458400-101461000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:101458400-101461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:101458400-101461000	Active TSS	NHEK	skin
39	chr7:101458400-101461000	Active TSS	Osteobl	bone
40	chr7:101458400-101461200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:101458400-101461200	Weak transcription	Fetal Heart	heart
42	chr7:101458400-101461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:101458400-101461600	Active TSS	GM12878-XiMat	blood
44	chr7:101458400-101461800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:101458600-101461000	Active TSS	K562	blood
46	chr7:101458600-101461200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:101458600-101461600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:101458600-101461600	Active TSS	HepG2	liver
49	chr7:101458600-101461800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:101458800-101461000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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