Variant report

Variant	rs56703688
Chromosome Location	chr2:73148399-73148400
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	SUZ12	chr2:73141940-73149570	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr2:73146986-73148450	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr2:73146976-73148840	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73144135..73147109-chr2:73147750..73150518,2	K562	blood:
2	chr2:73146174..73148965-chr2:73155381..73157789,2	MCF-7	breast:
3	chr2:73143046..73144631-chr2:73147614..73149655,2	MCF-7	breast:
4	chr2:73143006..73144929-chr2:73147102..73149092,2	K562	blood:

Variant related genes	Relation type
EMX1	TF binding region
ENSG00000135638	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6745468	0.98[EUR][1000 genomes]
rs6748324	0.95[AFR][1000 genomes]
rs6757051	0.88[AFR][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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73142800-73151800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:73145600-73148800	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr2:73146000-73148600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr2:73146800-73148400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr2:73146800-73148400	Active TSS	Fetal Brain Female	brain
6	chr2:73147000-73148400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:73147000-73148400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr2:73147000-73148400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:73147000-73148400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:73147000-73148400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:73147000-73148400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:73147000-73148400	Bivalent Enhancer	Placenta	Placenta
13	chr2:73147200-73148400	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr2:73147200-73148600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:73147600-73148400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:73147800-73148400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:73147800-73150800	Weak transcription	Gastric	stomach
18	chr2:73148000-73148400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr2:73148000-73148400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:73148000-73148400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:73148000-73148400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr2:73148000-73148400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr2:73148000-73148400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr2:73148000-73148400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr2:73148000-73148400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:73148000-73148400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:73148000-73148400	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr2:73148000-73148400	Bivalent Enhancer	Colon Smooth Muscle	Colon
29	chr2:73148000-73148400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr2:73148000-73148400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:73148000-73148400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:73148000-73148400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr2:73148000-73148400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr2:73148000-73148600	Enhancers	Spleen	Spleen
35	chr2:73148000-73151200	Weak transcription	Pancreas	Pancrea
36	chr2:73148200-73148400	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
37	chr2:73148200-73148400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr2:73148200-73148400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr2:73148200-73148400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr2:73148200-73148400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:73148200-73148400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:73148200-73148400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:73148200-73148400	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr2:73148200-73148400	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr2:73148200-73148400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr2:73148200-73148600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr2:73148200-73148600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr2:73148200-73148600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
49	chr2:73148200-73148600	Bivalent Enhancer	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links