Variant report

Variant	rs548696367
Chromosome Location	chr7:100493451-100493452
allele	G/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	chr7:100493215-100493986	K562	blood:	n/a	n/a
2	JUN	chr7:100493191-100496118	K562	blood:	n/a	chr7:100494328-100494341 chr7:100493521-100493530
3	POLR2A	chr7:100493320-100493552	K562	blood:	n/a	n/a
4	CTCF	chr7:100491721-100493493	SK-N-SH	brain:	n/a	chr7:100492576-100492594 chr7:100492984-100492997 chr7:100493289-100493302 chr7:100492813-100492822 chr7:100492579-100492592
5	ZBTB7A	chr7:100492302-100493511	K562	blood:	n/a	n/a
6	EGR1	chr7:100493043-100493502	ECC-1	luminal epithelium:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100493233-100493243 chr7:100493227-100493249 chr7:100493231-100493244 chr7:100493234-100493243 chr7:100493232-100493243 chr7:100493233-100493242 chr7:100493256-100493266
7	HMGN3	chr7:100492415-100495041	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:100492182-100495231	K562	blood:	n/a	n/a
9	PAX5	chr7:100493182-100493484	GM12892	blood:	n/a	n/a
10	MAX	chr7:100492833-100493531	K562	blood:	n/a	n/a
11	ELF1	chr7:100492338-100493495	GM12878	blood:	n/a	chr7:100493197-100493209 chr7:100492571-100492580 chr7:100493216-100493228 chr7:100492574-100492583 chr7:100492740-100492752 chr7:100493292-100493304
12	UBTF	chr7:100492437-100494200	K562	blood:	n/a	n/a
13	EGR1	chr7:100493055-100494141	MCF-7	breast:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100493231-100493244 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
14	EGR1	chr7:100493436-100493654	GM12878	blood:	n/a	chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493581-100493595 chr7:100493562-100493576 chr7:100493512-100493522
15	SIN3AK20	chr7:100493295-100493910	K562	blood:	n/a	n/a
16	MAX	chr7:100493443-100494663	MCF-7	breast:	n/a	chr7:100493756-100493765 chr7:100493755-100493766
17	SIN3AK20	chr7:100493077-100494075	PANC-1	pancreas:	n/a	n/a
18	HDAC2	chr7:100492345-100495320	MCF-7	breast:	n/a	n/a
19	EGR1	chr7:100492691-100494069	K562	blood:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100492856-100492869 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100492860-100492870 chr7:100493231-100493244 chr7:100492743-100492756 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
20	UBTF	chr7:100492487-100493492	K562	blood:	n/a	n/a
21	CCNT2	chr7:100492094-100495029	K562	blood:	n/a	chr7:100492742-100492751
22	YY1	chr7:100493063-100493511	K562	blood:	n/a	chr7:100493292-100493306 chr7:100493202-100493211 chr7:100493286-100493297 chr7:100493298-100493307 chr7:100493197-100493211
23	TBP	chr7:100493362-100493959	K562	blood:	n/a	n/a
24	E2F6	chr7:100493087-100493504	K562	blood:	n/a	chr7:100493298-100493307
25	ZBTB7A	chr7:100492304-100494646	ECC-1	luminal epithelium:	n/a	n/a
26	EGR1	chr7:100492863-100493940	HCT-116	colon:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100493231-100493244 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
27	POLR2A	chr7:100493215-100495902	K562	blood:	n/a	n/a
28	POLR2A	chr7:100493043-100493561	H1-neurons	neurons:	n/a	n/a
29	EGR1	chr7:100492404-100493976	K562	blood:	n/a	chr7:100493231-100493244 chr7:100493232-100493243 chr7:100493233-100493243 chr7:100493231-100493244 chr7:100493231-100493245 chr7:100492856-100492869 chr7:100493233-100493243 chr7:100493508-100493522 chr7:100493531-100493545 chr7:100493227-100493249 chr7:100492860-100492870 chr7:100493231-100493244 chr7:100492743-100492756 chr7:100493234-100493243 chr7:100493581-100493595 chr7:100493232-100493243 chr7:100493562-100493576 chr7:100493233-100493242 chr7:100493256-100493266 chr7:100493512-100493522
30	ZBTB7A	chr7:100492311-100494721	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
2	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
3	chr7:100492615..100493493-chr7:100609306..100609962,2	MCF-7	breast:
4	chr7:100270007..100272523-chr7:100492882..100494851,2	K562	blood:
5	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
6	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
7	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
8	chr7:100492733..100496183-chr7:100699112..100703676,5	MCF-7	breast:
9	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:

Variant related genes	Relation type
ACHE	TF binding region
ENSG00000106400	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
10	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
11	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
12	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
13	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
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv482110	chr7:100487616-100493541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
19	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	nsv888807	chr7:100490077-100498057	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv888808	chr7:100490981-100498057	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv888809	chr7:100491451-100495530	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv888810	chr7:100492127-100495530	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv888811	chr7:100492127-100497131	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv888812	chr7:100492127-100498057	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv888813	chr7:100492322-100495530	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv607969	chr7:100492357-100493998	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv888814	chr7:100492357-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv888815	chr7:100492357-100497131	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv607970	chr7:100492493-100494949	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100491200-100493600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:100491800-100493600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:100491800-100493600	Active TSS	HSMM	muscle
4	chr7:100491800-100493800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:100491800-100495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:100492000-100493600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:100492000-100493600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100492000-100493600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:100492000-100493800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:100492000-100493800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:100492000-100494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:100492200-100493600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:100492200-100493600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:100492200-100493600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:100492200-100493600	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:100492200-100493800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:100492200-100493800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:100492200-100493800	Active TSS	HepG2	liver
19	chr7:100492200-100494200	Bivalent Enhancer	Spleen	Spleen
20	chr7:100492200-100495000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:100492400-100493600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr7:100492400-100493600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr7:100492400-100493600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr7:100492400-100493600	Active TSS	A549	lung
25	chr7:100492400-100493800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:100492400-100493800	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:100492400-100493800	Bivalent/Poised TSS	Thymus	Thymus
28	chr7:100492400-100494000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr7:100492400-100494200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr7:100492400-100494400	Active TSS	Psoas Muscle	Psoas
31	chr7:100492600-100493600	Active TSS	Right Atrium	heart
32	chr7:100492600-100493600	Active TSS	Right Ventricle	heart
33	chr7:100492600-100493600	Active TSS	K562	blood
34	chr7:100492600-100493600	Bivalent/Poised TSS	NHEK	skin
35	chr7:100492600-100493800	Enhancers	Liver	Liver
36	chr7:100492600-100493800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
37	chr7:100492600-100493800	Active TSS	Brain Anterior Caudate	brain
38	chr7:100492600-100493800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:100492600-100493800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:100492600-100493800	Active TSS	Ovary	ovary
41	chr7:100492600-100493800	Active TSS	HSMMtube	muscle
42	chr7:100492600-100495000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:100492800-100493600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr7:100492800-100493600	Active TSS	Brain Substantia Nigra	brain
45	chr7:100492800-100493800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:100492800-100493800	Enhancers	Fetal Heart	heart
47	chr7:100493000-100493600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:100493000-100493600	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr7:100493000-100493600	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr7:100493000-100493800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links