Variant report

Variant	rs66775024
Chromosome Location	chr7:100465619-100465620
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	POLR2A	chr7:100463239-100465982	Hela-S3	cervix:	n/a	n/a
2	MAX	chr7:100462763-100466194	HCT-116	colon:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
3	POLR2A	chr7:100465257-100466093	K562	blood:	n/a	n/a
4	ZBTB7A	chr7:100464518-100465633	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3A	chr7:100464627-100466064	H1-hESC	embryonic stem cell:	n/a	chr7:100464920-100464929 chr7:100464922-100464931
6	POLR2A	chr7:100465510-100466170	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:100465599-100465629	GM12878	blood:	n/a	n/a
8	CHD1	chr7:100464918-100465765	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:100464647-100465977	GM12892	blood:	n/a	n/a
10	ELF1	chr7:100464568-100465632	GM12878	blood:	n/a	chr7:100465335-100465347 chr7:100464759-100464771
11	SMARCB1	chr7:100463207-100466210	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:100464459-100466327	K562	blood:	n/a	n/a
13	POLR2A	chr7:100465555-100466229	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:100463164-100466642	HL-60	blood:	n/a	n/a
15	HEY1	chr7:100464573-100466263	K562	blood:	n/a	chr7:100464949-100464958 chr7:100464947-100464956
16	POLR2A	chr7:100464560-100465931	GM18505	blood:	n/a	n/a
17	CHD1	chr7:100464240-100466322	IMR90	lung:	n/a	n/a
18	EGR1	chr7:100465248-100465694	K562	blood:	n/a	n/a
19	POLR2A	chr7:100465515-100466129	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr7:100465584-100466264	K562	blood:	n/a	n/a
21	POLR2A	chr7:100464097-100466221	GM12878	blood:	n/a	n/a
22	UBTF	chr7:100464687-100466303	K562	blood:	n/a	n/a
23	POLR2A	chr7:100465538-100466139	GM12878	blood:	n/a	n/a
24	JUN	chr7:100464020-100466277	K562	blood:	n/a	chr7:100464883-100464893 chr7:100464944-100464957 chr7:100464882-100464893 chr7:100464948-100464957
25	POLR2A	chr7:100465544-100465998	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr7:100464128-100466063	GM12891	blood:	n/a	n/a
27	POLR2A	chr7:100463396-100466627	U87	brain:	n/a	n/a
28	TAF1	chr7:100465555-100465983	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:100465516-100465862	GM12892	blood:	n/a	n/a
30	POLR2A	chr7:100465585-100466307	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:100465552-100466141	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:100465597-100465948	Hela-S3	cervix:	n/a	n/a
33	ZBTB7A	chr7:100464364-100465929	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr7:100465577-100465993	K562	blood:	n/a	n/a
35	POLR2A	chr7:100463165-100466460	HL-60	blood:	n/a	n/a
36	NR2F2	chr7:100465466-100466028	K562	blood:	n/a	n/a
37	POLR2A	chr7:100464595-100466452	GM19193	blood:	n/a	n/a
38	HEY1	chr7:100465557-100465915	K562	blood:	n/a	n/a
39	POLR2A	chr7:100465558-100465982	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:100464612-100466114	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:100464519-100466092	GM12891	blood:	n/a	n/a
42	POLR2A	chr7:100464115-100466414	K562	blood:	n/a	n/a
43	MYC	chr7:100464508-100466098	NB4	blood:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
44	POLR2A	chr7:100464309-100466495	NB4	blood:	n/a	n/a
45	POLR2A	chr7:100464039-100466627	K562	blood:	n/a	n/a
46	POLR2A	chr7:100463158-100465965	HCT-116	colon:	n/a	n/a
47	TAF1	chr7:100465467-100466320	K562	blood:	n/a	n/a
48	CBX3	chr7:100465606-100466168	K562	blood:	n/a	n/a
49	MAX	chr7:100464316-100466551	K562	blood:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
50	POLR2A	chr7:100464063-100466160	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
2	chr7:100448636..100452358-chr7:100462094..100466806,6	K562	blood:
3	chr7:100270217..100272304-chr7:100463855..100466313,2	MCF-7	breast:
4	chr2:181845181..181847277-chr7:100464247..100466142,2	MCF-7	breast:
5	chr7:100449368..100450252-chr7:100464960..100465806,2	MCF-7	breast:
6	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
7	chr7:100025401..100028370-chr7:100464359..100466273,3	K562	blood:
8	chr7:100270953..100272830-chr7:100463570..100466328,2	K562	blood:
9	chr7:100450046..100452057-chr7:100463309..100465619,3	MCF-7	breast:
10	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000170035	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160813	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2396755	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55980512	1.00[ASN][1000 genomes]
rs56181548	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57708886	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59441762	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100463400-100465800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr7:100463400-100465800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:100463600-100466000	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr7:100463600-100466400	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr7:100463600-100466400	Active TSS	Psoas Muscle	Psoas
7	chr7:100463600-100466600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr7:100464000-100466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100464000-100466400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr7:100464000-100466600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:100464000-100466600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:100464200-100465800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr7:100464200-100466200	Flanking Active TSS	Placenta	Placenta
14	chr7:100464200-100466200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr7:100464400-100466400	Flanking Active TSS	Fetal Thymus	thymus
16	chr7:100464400-100466600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:100464600-100465800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100464600-100465800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:100464600-100465800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:100464600-100465800	Active TSS	Aorta	Aorta
21	chr7:100464600-100465800	Active TSS	Left Ventricle	heart
22	chr7:100464600-100465800	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:100464600-100465800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:100464600-100466000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:100464600-100466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:100464600-100466000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:100464600-100466200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:100464600-100466200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr7:100464600-100466400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:100464600-100466400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:100464600-100466400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:100464600-100466400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:100464600-100466400	Active TSS	Ovary	ovary
34	chr7:100464600-100466600	Active TSS	Esophagus	oesophagus
35	chr7:100464600-100466800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:100464800-100465800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:100464800-100465800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr7:100464800-100465800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:100464800-100465800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:100464800-100465800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:100464800-100465800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:100464800-100465800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:100464800-100465800	Active TSS	Brain Substantia Nigra	brain
44	chr7:100464800-100465800	Active TSS	Fetal Lung	lung
45	chr7:100464800-100465800	Active TSS	Fetal Stomach	stomach
46	chr7:100464800-100465800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr7:100464800-100465800	Active TSS	Hela-S3	cervix
48	chr7:100464800-100465800	Active TSS	NH-A	brain
49	chr7:100464800-100465800	Active TSS	NHLF	lung
50	chr7:100464800-100466000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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