Variant report

Variant	rs729710
Chromosome Location	chr7:150822445-150822446
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	chr7:150822354-150822525	K562	blood:	n/a	n/a
2	CTCF	chr7:150822360-150822510	HEEpiC	esophagus:	n/a	n/a
3	CTBP2	chr7:150822445-150823067	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr7:150822078-150822452	K562	blood:	n/a	chr7:150822287-150822300 chr7:150822289-150822299 chr7:150822289-150822299 chr7:150822283-150822305 chr7:150822287-150822301 chr7:150822290-150822299 chr7:150822286-150822301 chr7:150822297-150822312 chr7:150822299-150822310 chr7:150822288-150822299 chr7:150822293-150822300 chr7:150822287-150822300 chr7:150822288-150822299 chr7:150822287-150822300
5	RCOR1	chr7:150822400-150822462	HepG2	liver:	n/a	n/a
6	CTCF	chr7:150822408-150823022	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
7	TCF12	chr7:150822421-150823152	ECC-1	luminal epithelium:	n/a	chr7:150822593-150822600 chr7:150822729-150822737
8	SIN3AK20	chr7:150822422-150823158	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:150822405-150823631	H1-hESC	embryonic stem cell:	n/a	chr7:150823249-150823259
10	TCF12	chr7:150822432-150823192	ECC-1	luminal epithelium:	n/a	chr7:150822593-150822600 chr7:150822729-150822737
11	SIN3A	chr7:150822419-150823958	H1-hESC	embryonic stem cell:	n/a	chr7:150823157-150823168
12	CTCF	chr7:150822440-150822590	AG09319	gingival:	n/a	n/a
13	CTCF	chr7:150822385-150822910	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
14	POLR2A	chr7:150821421-150823088	K562	blood:	n/a	n/a
15	TAF7	chr7:150822409-150822890	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr7:150822405-150822915	H1-hESC	embryonic stem cell:	n/a	chr7:150822830-150822840 chr7:150822597-150822607 chr7:150822591-150822605 chr7:150822595-150822608

No.	Distal block	Cell Line	Cell type
1	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:
2	chr7:150820141..150822604-chr7:150863393..150866266,2	MCF-7	breast:
3	chr7:150820727..150822566-chr7:150869328..150870314,21	MCF-7	breast:
4	chr7:150821781..150824555-chr7:150874826..150877607,2	K562	blood:
5	chr7:150822023..150822998-chr7:151000299..151001077,2	MCF-7	breast:
6	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:
7	chr7:150821997..150823437-chr7:150869432..150870307,6	MCF-7	breast:
8	chr7:150820949..150822720-chr7:150827782..150829322,2	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000082014	Chromatin interaction
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]
rs10232511	0.87[EUR][1000 genomes]
rs62489627	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs729711	0.86[EUR][1000 genomes]
rs729712	0.88[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:122 , 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	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150813600-150822600	Strong transcription	Liver	Liver
7	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:150814200-150822600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150814600-150822800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:150814600-150825000	Weak transcription	Thymus	Thymus
13	chr7:150814800-150825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:150815000-150823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:150818400-150826600	Weak transcription	HSMMtube	muscle
20	chr7:150819000-150822600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:150819200-150822800	Weak transcription	Aorta	Aorta
22	chr7:150819400-150827600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:150819600-150822600	Strong transcription	Brain Hippocampus Middle	brain
24	chr7:150820200-150822800	Strong transcription	A549	lung
25	chr7:150820400-150822600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:150820400-150824200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:150820800-150822600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:150820800-150822600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:150820800-150822600	Genic enhancers	Placenta	Placenta
31	chr7:150820800-150822600	Strong transcription	K562	blood
32	chr7:150820800-150822800	Strong transcription	HMEC	breast
33	chr7:150821000-150822600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:150821000-150822600	Strong transcription	HepG2	liver
35	chr7:150821200-150822600	Weak transcription	Primary T cells from cord blood	blood
36	chr7:150821200-150822600	Genic enhancers	Esophagus	oesophagus
37	chr7:150821200-150822600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr7:150821200-150822600	Genic enhancers	Fetal Stomach	stomach
39	chr7:150821400-150822600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:150821400-150822600	Strong transcription	HSMM	muscle
41	chr7:150821400-150823000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:150821400-150823000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:150821400-150823000	Strong transcription	Hela-S3	cervix
44	chr7:150821400-150825000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:150821400-150825600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:150821600-150825400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:150821600-150833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:150821800-150822600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:150821800-150822600	Strong transcription	Brain Substantia Nigra	brain
50	chr7:150822000-150822600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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