Variant report

Variant	rs111936998
Chromosome Location	chr7:101460504-101460505
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	ZBTB7A	chr7:101460136-101461156	ECC-1	luminal epithelium:	n/a	chr7:101460685-101460693 chr7:101460799-101460806
4	POLR2A	chr7:101460374-101460616	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:101460312-101461370	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:101460412-101460509	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:101460385-101461244	GM12878	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
8	POLR2A	chr7:101460332-101460971	A549	lung:	n/a	n/a
9	MAZ	chr7:101460372-101461199	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:101460410-101461301	K562	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
11	POLR2A	chr7:101460377-101460585	A549	lung:	n/a	n/a
12	MYC	chr7:101460378-101460552	MCF-7	breast:	n/a	n/a
13	MAZ	chr7:101460391-101461248	Hela-S3	cervix:	n/a	n/a
14	MAX	chr7:101460430-101461254	NB4	blood:	n/a	n/a
15	NR2F2	chr7:101460266-101461476	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:101458228-101461258	K562	blood:	n/a	n/a
17	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
18	UBTF	chr7:101459799-101461331	K562	blood:	n/a	n/a
19	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
20	SMARCB1	chr7:101460182-101461071	Hela-S3	cervix:	n/a	n/a
21	PAX5	chr7:101460212-101460983	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:101460421-101461330	Hela-S3	cervix:	n/a	n/a
23	EP300	chr7:101460360-101460555	K562	blood:	n/a	chr7:101460540-101460549 chr7:101460410-101460419 chr7:101460499-101460515
24	ZBTB7A	chr7:101458194-101461209	K562	blood:	n/a	chr7:101459001-101459012 chr7:101460685-101460693 chr7:101460799-101460806 chr7:101458935-101458944 chr7:101458977-101458991
25	POLR2A	chr7:101460346-101460506	ProgFib	skin:	n/a	n/a
26	SIN3A	chr7:101460266-101461229	H1-hESC	embryonic stem cell:	n/a	chr7:101460889-101460902
27	POLR2A	chr7:101459836-101461417	IMR90	lung:	n/a	n/a
28	MAX	chr7:101460481-101461292	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr7:101460392-101461092	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:101458198-101461057	GM12892	blood:	n/a	n/a
31	YY1	chr7:101460106-101461228	K562	blood:	n/a	chr7:101460877-101460891 chr7:101460495-101460504 chr7:101460880-101460894 chr7:101460349-101460360 chr7:101460352-101460363 chr7:101460351-101460360
32	HA-E2F1	chr7:101460297-101461249	MCF-7	breast:	n/a	chr7:101460559-101460569 chr7:101460495-101460504 chr7:101460412-101460424 chr7:101460496-101460506 chr7:101460410-101460419 chr7:101460351-101460360 chr7:101460884-101460894
33	POLR2A	chr7:101459802-101461047	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:101459816-101461885	SK-N-SH	brain:	n/a	chr7:101459943-101459956
35	POLR2A	chr7:101459840-101460655	K562	blood:	n/a	n/a
36	MAZ	chr7:101458070-101461933	IMR90	lung:	n/a	n/a
37	MAX	chr7:101460303-101461363	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:101459786-101461057	A549	lung:	n/a	n/a
39	MAX	chr7:101460394-101461322	A549	lung:	n/a	n/a
40	POLR2A	chr7:101458388-101460895	GM15510	blood:	n/a	n/a
41	YY1	chr7:101460148-101460647	GM12892	blood:	n/a	chr7:101460495-101460504 chr7:101460349-101460360 chr7:101460352-101460363 chr7:101460351-101460360
42	HCFC1	chr7:101460405-101460742	K562	blood:	n/a	n/a
43	MXI1	chr7:101460240-101461283	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr7:101460183-101460594	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr7:101459884-101461228	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:101456948-101461302	Hela-S3	cervix:	n/a	n/a
47	HMGN3	chr7:101459917-101461159	K562	blood:	n/a	n/a
48	MAZ	chr7:101457330-101461241	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
49	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425
50	SMC3	chr7:101460332-101460522	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	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
3	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
4	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
5	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
6	chr16:2818449..2821278-chr7:101459206..101460777,2	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000167978	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000259294	Chromatin interaction
ENSG00000265864	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	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	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
3	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
7	chr7:101457000-101461400	Active TSS	Ovary	ovary
8	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
9	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
11	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
16	chr7:101457200-101461000	Active TSS	Thymus	Thymus
17	chr7:101457200-101461200	Active TSS	Aorta	Aorta
18	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:101457200-101461800	Active TSS	Right Atrium	heart
22	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
23	chr7:101457400-101460800	Active TSS	Spleen	Spleen
24	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
25	chr7:101457400-101461000	Active TSS	Lung	lung
26	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr7:101457400-101461200	Active TSS	Gastric	stomach
28	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
29	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
30	chr7:101457400-101461400	Active TSS	NHLF	lung
31	chr7:101457600-101461400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:101458000-101460800	Active TSS	Psoas Muscle	Psoas
34	chr7:101458200-101460600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:101458200-101461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:101458200-101461000	Active TSS	Primary T cells from cord blood	blood
37	chr7:101458200-101461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr7:101458200-101461000	Active TSS	Duodenum Mucosa	Duodenum
39	chr7:101458200-101461400	Active TSS	Fetal Intestine Small	intestine
40	chr7:101458200-101461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:101458400-101460800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:101458400-101461000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:101458400-101461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:101458400-101461000	Active TSS	NHEK	skin
45	chr7:101458400-101461000	Active TSS	Osteobl	bone
46	chr7:101458400-101461200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:101458400-101461200	Weak transcription	Fetal Heart	heart
48	chr7:101458400-101461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:101458400-101461600	Active TSS	GM12878-XiMat	blood
50	chr7:101458400-101461800	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links