Variant report

Variant	rs28503872
Chromosome Location	chr7:138348481-138348482
allele	A/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	CTCF	chr7:138348480-138348630	HCPEpiC	choroid plexus:	n/a	n/a
2	GTF2F1	chr7:138348402-138348483	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr7:138348358-138348707	T-47D	breast:	n/a	n/a
4	TEAD4	chr7:138348294-138348874	ECC-1	luminal epithelium:	n/a	n/a
5	KAP1	chr7:138348380-138348782	HEK293	kidney:	n/a	n/a
6	REST	chr7:138348233-138349002	H1-neurons	neurons:	n/a	n/a
7	SP1	chr7:138348317-138348801	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr7:138348439-138348722	SK-N-SH_RA	brain:	n/a	chr7:138348643-138348657
9	FOXA1	chr7:138348373-138348707	T-47D	breast:	n/a	chr7:138348446-138348458
10	POLR2A	chr7:138348416-138348808	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr7:138348440-138348590	HCPEpiC	choroid plexus:	n/a	n/a
12	EP300	chr7:138348331-138348925	ECC-1	luminal epithelium:	n/a	chr7:138348643-138348657
13	FOXA1	chr7:138348341-138348682	T-47D	breast:	n/a	chr7:138348446-138348458
14	POLR2A	chr7:138348380-138349045	H1-neurons	neurons:	n/a	n/a
15	EP300	chr7:138345131-138348889	SK-N-SH	brain:	n/a	chr7:138346991-138347005 chr7:138347217-138347224 chr7:138348643-138348657
16	SIN3A	chr7:138348393-138349373	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr7:138348413-138348774	T-47D	breast:	n/a	chr7:138348643-138348657
18	TEAD4	chr7:138348433-138348774	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr7:138348281-138348754	T-47D	breast:	n/a	chr7:138348643-138348657
20	CTCF	chr7:138348480-138348630	HBMEC	blood vessel:	n/a	n/a
21	TEAD4	chr7:138348472-138348697	H1-hESC	embryonic stem cell:	n/a	n/a
22	GATA3	chr7:138348459-138348638	T-47D	breast:	n/a	n/a
23	TEAD4	chr7:138348423-138348865	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr7:138348340-138348490	BE2_C	brain:	n/a	n/a
25	TCF7L2	chr7:138348422-138348619	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SVOPL	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1901247	1.00[EUR][1000 genomes]
rs58440371	1.00[EUR][1000 genomes]
rs58568101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60569142	1.00[EUR][1000 genomes]
rs6948560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956401	1.00[AMR][1000 genomes]
rs6956608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459207	1.00[EUR][1000 genomes]
rs73729604	1.00[AMR][1000 genomes]
rs73730411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780581	1.00[AMR][1000 genomes]
rs7790139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9692528	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv3325609	chr7:138348437-138351285	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138345800-138348600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
3	chr7:138346000-138348600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:138346400-138348600	Enhancers	Placenta	Placenta
5	chr7:138346400-138348600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:138346600-138348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:138347600-138348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:138347800-138348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:138347800-138348600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:138347800-138348600	Enhancers	Fetal Thymus	thymus
11	chr7:138348000-138348600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:138348000-138348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:138348000-138348800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:138348200-138348600	Enhancers	Fetal Intestine Large	intestine
15	chr7:138348200-138348800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:138348200-138348800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:138348200-138348800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:138348200-138348800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:138348400-138348600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:138348400-138348600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:138348400-138348600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:138348400-138348600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:138348400-138348600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:138348400-138348600	Enhancers	Esophagus	oesophagus
25	chr7:138348400-138348600	Enhancers	Fetal Stomach	stomach
26	chr7:138348400-138348600	Enhancers	Ovary	ovary
27	chr7:138348400-138348600	Enhancers	Thymus	Thymus
28	chr7:138348400-138348600	Bivalent Enhancer	HepG2	liver
29	chr7:138348400-138348600	Enhancers	NH-A	brain
30	chr7:138348400-138348800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:138348400-138348800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:138348400-138348800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:138348400-138348800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:138348400-138348800	Flanking Active TSS	Fetal Brain Female	brain
35	chr7:138348400-138349000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:138348400-138349000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:138348400-138349000	Active TSS	Brain Germinal Matrix	brain
38	chr7:138348400-138349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:138348400-138349000	Active TSS	Fetal Muscle Leg	muscle
40	chr7:138348400-138349000	Active TSS	HMEC	breast
41	chr7:138348400-138349000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:138348400-138349200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:138348400-138349200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:138348400-138349400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:138348400-138349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:138348400-138349400	Active TSS	Brain Cingulate Gyrus	brain
47	chr7:138348400-138349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:138348400-138349400	Active TSS	Fetal Kidney	kidney
49	chr7:138348400-138349400	Active TSS	NHEK	skin
50	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links