Variant report

Variant	rs13246990
Chromosome Location	chr7:150823622-150823623
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	NFIC	chr7:150823412-150824126	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr7:150823380-150824145	ECC-1	luminal epithelium:	n/a	chr7:150824120-150824130
3	USF1	chr7:150823586-150823921	ECC-1	luminal epithelium:	n/a	n/a
4	E2F6	chr7:150823144-150824181	H1-hESC	embryonic stem cell:	n/a	chr7:150823587-150823596 chr7:150823355-150823367 chr7:150823644-150823653 chr7:150823587-150823599 chr7:150823183-150823192
5	ZBTB7A	chr7:150822538-150823920	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr7:150823548-150824235	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr7:150823559-150823990	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr7:150822519-150823712	H1-neurons	neurons:	n/a	chr7:150823641-150823654 chr7:150823126-150823136
9	ZBTB7A	chr7:150823138-150824037	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr7:150823189-150824243	ECC-1	luminal epithelium:	n/a	chr7:150823249-150823259
11	E2F6	chr7:150822779-150824135	H1-hESC	embryonic stem cell:	n/a	chr7:150823587-150823596 chr7:150822936-150822946 chr7:150823355-150823367 chr7:150823644-150823653 chr7:150823587-150823599 chr7:150823183-150823192 chr7:150822938-150822950
12	TEAD4	chr7:150823618-150824284	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr7:150823157-150824253	ECC-1	luminal epithelium:	n/a	chr7:150823249-150823259
14	USF1	chr7:150823529-150824037	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr7:150823157-150824093	ECC-1	luminal epithelium:	n/a	chr7:150823342-150823349
16	MAX	chr7:150822405-150823631	H1-hESC	embryonic stem cell:	n/a	chr7:150823249-150823259
17	NFIC	chr7:150823473-150824137	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3A	chr7:150822419-150823958	H1-hESC	embryonic stem cell:	n/a	chr7:150823157-150823168
19	MAX	chr7:150822458-150824213	H1-hESC	embryonic stem cell:	n/a	chr7:150823249-150823259
20	POLR2A	chr7:150823608-150824246	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150823153..150825845-chr7:150864127..150866768,5	MCF-7	breast:
2	chr7:150823122..150823820-chr7:150869370..150869890,2	K562	blood:
3	chr7:150821781..150824555-chr7:150874826..150877607,2	K562	blood:
4	chr7:150822692..150823787-chr7:150869509..150870193,3	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000164900	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10256812	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60252231	0.84[EUR][1000 genomes]
rs62489628	0.82[EUR][1000 genomes]
rs729712	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	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
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers 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	41 gene(s)	inside rSNPs	diseases
11	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription 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	45 gene(s)	inside rSNPs	diseases
12	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv527369	chr7:150822192-150825087	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv523930	chr7:150822192-150830015	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv528732	chr7:150822192-150832913	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
2	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150814600-150825000	Weak transcription	Thymus	Thymus
9	chr7:150814800-150825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:150818400-150826600	Weak transcription	HSMMtube	muscle
15	chr7:150819400-150827600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150820400-150824200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:150821400-150825000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:150821400-150825600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:150821600-150825400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:150821600-150833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:150822000-150825000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:150822400-150823800	Enhancers	Fetal Brain Male	brain
24	chr7:150822400-150824600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:150822400-150825600	Weak transcription	Brain Angular Gyrus	brain
26	chr7:150822400-150825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:150822400-150827200	Weak transcription	Dnd41	blood
28	chr7:150822600-150823800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:150822600-150823800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:150822600-150823800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:150822600-150823800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:150822600-150823800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:150822600-150823800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:150822600-150823800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:150822600-150824000	Weak transcription	Liver	Liver
36	chr7:150822600-150824000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:150822600-150824600	Weak transcription	HepG2	liver
38	chr7:150822600-150824600	Weak transcription	K562	blood
39	chr7:150822600-150825000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:150822600-150826000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:150822600-150827000	Weak transcription	HUVEC	blood vessel
42	chr7:150822600-150828000	Weak transcription	HSMM	muscle
43	chr7:150822800-150824000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:150822800-150824400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:150822800-150824800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:150822800-150824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:150822800-150825000	Weak transcription	HMEC	breast
48	chr7:150822800-150827000	Weak transcription	Fetal Kidney	kidney
49	chr7:150822800-150827200	Weak transcription	A549	lung
50	chr7:150822800-150827200	Weak transcription	GM12878-XiMat	blood

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