Variant report

Variant	rs12216605
Chromosome Location	chr7:150946390-150946391
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	SMARCB1	chr7:150945391-150946629	Hela-S3	cervix:	n/a	n/a
2	CTBP2	chr7:150945773-150946525	H1-hESC	embryonic stem cell:	n/a	n/a
3	UBTF	chr7:150945626-150946521	K562	blood:	n/a	n/a
4	E2F6	chr7:150945994-150946648	A549	lung:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
5	POLR2A	chr7:150946184-150946507	HCT-116	colon:	n/a	n/a
6	EP300	chr7:150945205-150946525	SK-N-SH	brain:	n/a	chr7:150946151-150946160
7	BACH1	chr7:150946355-150946673	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F4	chr7:150946376-150946593	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr7:150946169-150946611	A549	lung:	n/a	n/a
10	MYC	chr7:150946223-150946428	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:150946349-150946532	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:150946167-150946545	A549	lung:	n/a	n/a
13	MAX	chr7:150945235-150946610	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
14	RCOR1	chr7:150946215-150946408	HepG2	liver:	n/a	n/a
15	NR2F2	chr7:150946240-150946777	K562	blood:	n/a	n/a
16	UBTF	chr7:150945729-150946437	K562	blood:	n/a	n/a
17	MAX	chr7:150946053-150946797	ECC-1	luminal epithelium:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
18	MAX	chr7:150945512-150946750	ECC-1	luminal epithelium:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
19	POLR2A	chr7:150946190-150947008	HCT-116	colon:	n/a	n/a
20	MAX	chr7:150946064-150946607	K562	blood:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
21	MAX	chr7:150946168-150946435	HepG2	liver:	n/a	n/a
22	TAF1	chr7:150945626-150946690	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:150946072-150946626	Gliobla	brain:	n/a	n/a
24	POLR2A	chr7:150946208-150946495	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
26	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
27	MAX	chr7:150945137-150946765	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
28	MAX	chr7:150945553-150946706	HepG2	liver:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
29	ZBTB7A	chr7:150945186-150946420	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794
30	EP300	chr7:150945430-150946830	ECC-1	luminal epithelium:	n/a	chr7:150946151-150946160 chr7:150946637-150946651 chr7:150946668-150946684
31	POLR2A	chr7:150946091-150947080	U87	brain:	n/a	n/a
32	MYC	chr7:150946279-150946565	NB4	blood:	n/a	n/a
33	NFIC	chr7:150945988-150946950	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr7:150944351-150946539	K562	blood:	n/a	chr7:150945786-150945794
35	POLR2A	chr7:150946337-150946546	A549	lung:	n/a	n/a
36	POLR2A	chr7:150946236-150946731	H1-neurons	neurons:	n/a	n/a
37	MAX	chr7:150945209-150946678	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
38	MAX	chr7:150946266-150946596	NB4	blood:	n/a	n/a
39	POLR2A	chr7:150946073-150946588	ProgFib	skin:	n/a	n/a
40	POLR2A	chr7:150945841-150946546	HUVEC	blood vessel:	n/a	n/a
41	MAZ	chr7:150945461-150946453	Hela-S3	cervix:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
42	MAX	chr7:150945605-150946675	Hela-S3	cervix:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
43	POLR2A	chr7:150946252-150946646	U87	brain:	n/a	n/a
44	POLR2A	chr7:150946097-150947080	U87	brain:	n/a	n/a
45	POLR2A	chr7:150946200-150946522	A549	lung:	n/a	n/a
46	CCNT2	chr7:150945698-150946465	K562	blood:	n/a	n/a
47	MAX	chr7:150945922-150946587	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
48	MXI1	chr7:150943671-150947189	IMR90	lung:	n/a	chr7:150944194-150944203 chr7:150945408-150945423
49	MAZ	chr7:150945299-150947154	IMR90	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
50	E2F6	chr7:150945727-150946557	K562	blood:	n/a	chr7:150946091-150946100 chr7:150946063-150946072

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:
2	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000033100	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233700	0.84[ASN][1000 genomes]
rs122815	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs219227	0.98[ASN][1000 genomes]
rs219228	0.98[ASN][1000 genomes]
rs219231	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs219234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290736	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2792430	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2792432	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs3807385	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3823589	0.87[ASN][1000 genomes]
rs59066922	0.89[AFR][1000 genomes]
rs59828731	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6977933	0.86[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3364561	chr7:150945169-150947267	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150944200-150946400	Active TSS	Right Ventricle	heart
2	chr7:150944600-150946400	Active TSS	Brain Angular Gyrus	brain
3	chr7:150944600-150946400	Active TSS	Left Ventricle	heart
4	chr7:150944600-150946800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:150944600-150946800	Active TSS	Fetal Kidney	kidney
6	chr7:150944600-150947000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150944600-150947000	Active TSS	Aorta	Aorta
8	chr7:150944600-150947000	Active TSS	Psoas Muscle	Psoas
9	chr7:150944800-150946400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:150944800-150946400	Active TSS	Fetal Lung	lung
11	chr7:150944800-150947000	Active TSS	Right Atrium	heart
12	chr7:150945000-150946400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:150945000-150946400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:150945000-150946400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:150945000-150946400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:150945000-150946400	Active TSS	Ovary	ovary
17	chr7:150945000-150946400	Active TSS	NHDF-Ad	bronchial
18	chr7:150945000-150946600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr7:150945000-150946600	Active TSS	Brain Substantia Nigra	brain
20	chr7:150945000-150946800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:150945000-150946800	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr7:150945000-150947200	Active TSS	HSMMtube	muscle
23	chr7:150945200-150946400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:150945200-150946400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:150945200-150946400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:150945200-150946400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:150945200-150946400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:150945200-150946400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:150945200-150946400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:150945200-150946400	Active TSS	Primary T cells from cord blood	blood
31	chr7:150945200-150946400	Active TSS	Fetal Brain Female	brain
32	chr7:150945200-150946400	Active TSS	Fetal Intestine Large	intestine
33	chr7:150945200-150946400	Active TSS	Fetal Intestine Small	intestine
34	chr7:150945200-150946400	Active TSS	Fetal Muscle Leg	muscle
35	chr7:150945200-150946400	Active TSS	Fetal Stomach	stomach
36	chr7:150945200-150946400	Active TSS	Gastric	stomach
37	chr7:150945200-150946400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:150945200-150946400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:150945200-150946400	Active TSS	Hela-S3	cervix
40	chr7:150945200-150946400	Active TSS	Osteobl	bone
41	chr7:150945200-150946600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:150945200-150946600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr7:150945200-150946600	Active TSS	Brain Anterior Caudate	brain
44	chr7:150945200-150946600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:150945200-150946600	Active TSS	Colon Smooth Muscle	Colon
46	chr7:150945200-150946800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:150945400-150946400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:150945400-150946400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:150945400-150946400	Flanking Active TSS	HMEC	breast
50	chr7:150945400-150946600	Active TSS	Small Intestine	intestine

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