Variant report

Variant	rs6723611
Chromosome Location	chr2:171571401-171571402
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	TBP	chr2:171570845-171571991	K562	blood:	n/a	n/a
2	MYC	chr2:171570988-171571999	K562	blood:	n/a	n/a
3	POLR2A	chr2:171570854-171571430	K562	blood:	n/a	n/a
4	MAZ	chr2:171570898-171572128	K562	blood:	n/a	chr2:171572090-171572100
5	GATA2	chr2:171571309-171571805	HUVEC	blood vessel:	n/a	chr2:171571393-171571407 chr2:171571389-171571410
6	MAFK	chr2:171571271-171571878	HepG2	liver:	n/a	n/a
7	HMGN3	chr2:171570229-171571461	K562	blood:	n/a	n/a
8	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
9	JUND	chr2:171571172-171571868	HepG2	liver:	n/a	chr2:171571486-171571495 chr2:171571485-171571494
10	SIN3AK20	chr2:171570920-171571971	HepG2	liver:	n/a	n/a
11	HNF4G	chr2:171570905-171572522	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
12	GATA2	chr2:171571065-171571520	K562	blood:	n/a	chr2:171571393-171571407 chr2:171571389-171571410
13	E2F6	chr2:171570827-171571417	K562	blood:	n/a	chr2:171571362-171571372
14	POLR2A	chr2:171570853-171572137	K562	blood:	n/a	n/a
15	MAX	chr2:171571091-171571523	A549	lung:	n/a	n/a
16	MAX	chr2:171570793-171572577	HCT-116	colon:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
17	RCOR1	chr2:171570990-171571968	K562	blood:	n/a	n/a
18	CEBPD	chr2:171570697-171573739	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:171570699-171572565	HepG2	liver:	n/a	n/a
20	JUND	chr2:171570963-171572060	HepG2	liver:	n/a	chr2:171571486-171571495 chr2:171571106-171571115 chr2:171571485-171571494
21	NFIC	chr2:171570759-171572599	HepG2	liver:	n/a	n/a
22	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
23	BHLHE40	chr2:171570995-171571466	HepG2	liver:	n/a	n/a
24	CHD2	chr2:171569669-171572660	HepG2	liver:	n/a	n/a
25	NR2F2	chr2:171570839-171571491	MCF-7	breast:	n/a	n/a
26	MYC	chr2:171571127-171571416	MCF10A-Er-Src	breast:	n/a	n/a
27	CBX3	chr2:171570404-171572616	K562	blood:	n/a	n/a
28	SIN3AK20	chr2:171570889-171571433	HepG2	liver:	n/a	n/a
29	HEY1	chr2:171570869-171571413	K562	blood:	n/a	n/a
30	MAX	chr2:171570843-171571537	A549	lung:	n/a	n/a
31	MYC	chr2:171570946-171572120	K562	blood:	n/a	chr2:171572090-171572100
32	RCOR1	chr2:171570981-171572079	K562	blood:	n/a	n/a
33	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
34	SP1	chr2:171570873-171572145	HepG2	liver:	n/a	chr2:171571487-171571496 chr2:171572092-171572101 chr2:171571240-171571250 chr2:171572088-171572102
35	CEBPB	chr2:171571095-171572067	HepG2	liver:	n/a	n/a
36	NFIC	chr2:171570706-171572595	ECC-1	luminal epithelium:	n/a	n/a
37	SMC3	chr2:171571288-171571918	HepG2	liver:	n/a	n/a
38	MYC	chr2:171570922-171572184	K562	blood:	n/a	chr2:171572090-171572100
39	JUND	chr2:171570918-171571987	K562	blood:	n/a	chr2:171571486-171571495 chr2:171571106-171571115 chr2:171571485-171571494
40	TCF7L2	chr2:171571064-171572330	MCF-7	breast:	n/a	chr2:171571733-171571749 chr2:171571540-171571556 chr2:171571543-171571552 chr2:171571758-171571772 chr2:171571734-171571748 chr2:171571759-171571773 chr2:171571540-171571556 chr2:171571761-171571770 chr2:171571734-171571748 chr2:171571699-171571706 chr2:171571733-171571749
41	TCF12	chr2:171570857-171571534	ECC-1	luminal epithelium:	n/a	n/a
42	REST	chr2:171570975-171571466	K562	blood:	n/a	n/a
43	HCFC1	chr2:171570930-171572172	K562	blood:	n/a	n/a
44	FOSL2	chr2:171571127-171571948	HepG2	liver:	n/a	chr2:171571486-171571495 chr2:171571485-171571494
45	ZKSCAN1	chr2:171571361-171571500	Hela-S3	cervix:	n/a	n/a
46	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
47	TCF12	chr2:171570893-171572204	HepG2	liver:	n/a	n/a
48	RFX5	chr2:171570862-171572082	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:171570920-171571421	K562	blood:	n/a	n/a
50	E2F6	chr2:171570655-171572360	K562	blood:	n/a	chr2:171571753-171571761 chr2:171571487-171571499 chr2:171571605-171571620 chr2:171571606-171571620 chr2:171571362-171571372 chr2:171572092-171572104

No.	Distal block	Cell Line	Cell type
1	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
2	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:
3	chr2:171570330..171572699-chr2:171627295..171629894,2	MCF-7	breast:
4	chr2:171571182..171573160-chr2:171784797..171786624,2	K562	blood:

Variant related genes	Relation type
SP5	TF binding region
LINC01124	TF binding region
ENSG00000115806	Chromatin interaction
ENSG00000234350	Chromatin interaction
ENSG00000239467	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165379	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10175644	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10194303	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930438	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11895153	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612710	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613472	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12619010	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12994080	0.91[YRI][hapmap]
rs12994793	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1362489	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1362490	0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1420384	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs1477060	0.80[AFR][1000 genomes]
rs1861463	0.91[YRI][hapmap]
rs1894919	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34002163	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3749036	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4132720	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4668312	0.87[ASW][hapmap]
rs6433235	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433238	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433242	0.90[YRI][hapmap]
rs6433247	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66833017	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6711176	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6726371	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6733809	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6738022	0.83[EUR][1000 genomes]
rs6756891	0.91[YRI][hapmap]
rs6757195	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580460	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608979	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs869954	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs953680	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs954321	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9973711	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875409	chr2:171565376-171577859	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv821786	chr2:171567780-171574707	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv583609	chr2:171568633-171573309	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583610	chr2:171568633-171573529	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv15608	chr2:171569890-171574062	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6723611	MYO3B	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171568000-171571600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr2:171569200-171573000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr2:171569400-171574400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:171569600-171571600	Bivalent Enhancer	Spleen	Spleen
5	chr2:171569600-171574800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:171569600-171575600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:171569800-171572400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:171569800-171572600	Flanking Active TSS	Liver	Liver
9	chr2:171570000-171571800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:171570000-171572600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:171570000-171572600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr2:171570000-171572600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr2:171570000-171572600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr2:171570000-171573200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
17	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:171570200-171571600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr2:171570200-171571800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
20	chr2:171570200-171572400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:171570200-171572600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:171570400-171571600	Bivalent Enhancer	Fetal Heart	heart
27	chr2:171570400-171571800	Bivalent/Poised TSS	Left Ventricle	heart
28	chr2:171570400-171571800	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr2:171570400-171572400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
32	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr2:171570400-171573000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr2:171570400-171573400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:171570600-171571800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:171570600-171571800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr2:171570600-171572000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:171570600-171572000	Active TSS	Lung	lung
42	chr2:171570600-171572000	Active TSS	Right Atrium	heart
43	chr2:171570600-171572200	Active TSS	Hela-S3	cervix
44	chr2:171570600-171572400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr2:171570600-171573000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr2:171570600-171573400	Active TSS	Aorta	Aorta
50	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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