Variant report

Variant	rs7949944
Chromosome Location	chr11:64578620-64578621
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	MAX	chr11:64577889-64578700	HepG2	liver:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
2	STAT3	chr11:64578597-64578621	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr11:64577708-64578664	SK-N-SH	brain:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
4	SPI1	chr11:64578414-64578645	K562	blood:	n/a	n/a
5	GABPA	chr11:64577726-64578748	MCF-7	breast:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
6	MAX	chr11:64578043-64578722	H1-hESC	embryonic stem cell:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
7	MAX	chr11:64577817-64578799	H1-hESC	embryonic stem cell:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
8	MAX	chr11:64577813-64578707	MCF-7	breast:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
9	CBX3	chr11:64577946-64578783	K562	blood:	n/a	n/a
10	SETDB1	chr11:64578274-64578758	U2OS	brain:	n/a	n/a
11	SPI1	chr11:64578395-64578671	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:64577744-64578748	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr11:64577785-64578699	SK-N-SH	brain:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
14	ELF1	chr11:64577367-64578643	HCT-116	colon:	n/a	chr11:64577590-64577602
15	ELF1	chr11:64578399-64578688	HepG2	liver:	n/a	n/a
16	ZKSCAN1	chr11:64577893-64578658	Hela-S3	cervix:	n/a	n/a
17	TBP	chr11:64577944-64578621	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:64577763-64578793	HepG2	liver:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
19	GABPA	chr11:64577868-64578670	HL-60	blood:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
20	RCOR1	chr11:64578440-64578661	HepG2	liver:	n/a	n/a
21	GABPA	chr11:64577862-64578662	K562	blood:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
22	MTA3	chr11:64577061-64578621	GM12878	blood:	n/a	n/a
23	FOXA1	chr11:64578395-64578748	HepG2	liver:	n/a	n/a
24	MYC	chr11:64577915-64578690	H1-hESC	embryonic stem cell:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
25	MAZ	chr11:64576924-64578651	IMR90	lung:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
26	POLR2A	chr11:64577131-64578664	K562	blood:	n/a	n/a
27	TEAD4	chr11:64578154-64578764	HepG2	liver:	n/a	n/a
28	MYC	chr11:64578440-64578717	HepG2	liver:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
29	MAX	chr11:64577867-64578667	K562	blood:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
30	SREBP1	chr11:64577696-64578718	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:64577388-64578739	HepG2	liver:	n/a	n/a
32	MAX	chr11:64577650-64578781	A549	lung:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
33	BHLHE40	chr11:64577908-64578754	HepG2	liver:	n/a	chr11:64578132-64578148
34	BHLHE40	chr11:64577892-64578704	GM12878	blood:	n/a	chr11:64578132-64578148
35	MAX	chr11:64577874-64578697	Hela-S3	cervix:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
36	ELF1	chr11:64578011-64578717	A549	lung:	n/a	n/a
37	SPI1	chr11:64578362-64578691	GM12878	blood:	n/a	n/a
38	TEAD4	chr11:64578417-64578747	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOXA1	chr11:64577965-64578742	HepG2	liver:	n/a	n/a
40	SP1	chr11:64577921-64578640	H1-hESC	embryonic stem cell:	n/a	chr11:64578053-64578066 chr11:64578050-64578062 chr11:64578051-64578060
41	MAX	chr11:64577826-64578748	Hela-S3	cervix:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
42	MAX	chr11:64577717-64578764	HepG2	liver:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
43	TEAD4	chr11:64577801-64578692	K562	blood:	n/a	n/a
44	ZNF143	chr11:64577729-64578733	H1-hESC	embryonic stem cell:	n/a	chr11:64578257-64578275 chr11:64578152-64578170 chr11:64578252-64578271 chr11:64578073-64578091 chr11:64578034-64578052 chr11:64578029-64578048
45	SIN3AK20	chr11:64578433-64578724	HepG2	liver:	n/a	n/a
46	RCOR1	chr11:64577937-64578712	K562	blood:	n/a	n/a
47	ELF1	chr11:64577867-64578731	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr11:64577014-64578711	MCF-7	breast:	n/a	n/a
49	E2F6	chr11:64577879-64578804	H1-hESC	embryonic stem cell:	n/a	n/a
50	GABPA	chr11:64577848-64578744	HL-60	blood:	n/a	chr11:64577871-64577880 chr11:64578130-64578139

No.	Distal block	Cell Line	Cell type
1	chr11:64578009..64579724-chr11:64644602..64647037,2	K562	blood:
2	chr11:64561801..64564643-chr11:64576528..64579219,3	MCF-7	breast:
3	chr11:64577984..64579530-chr11:64899937..64901907,3	K562	blood:
4	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
5	chr11:64575754..64580490-chr11:64608432..64614008,12	MCF-7	breast:
6	chr11:64576838..64579724-chr11:64644602..64648695,4	K562	blood:
7	chr11:64577011..64578912-chr11:64845908..64848474,2	K562	blood:
8	chr11:64543854..64548930-chr11:64577046..64580073,7	K562	blood:
9	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
10	chr11:64073207..64075347-chr11:64577929..64579925,2	MCF-7	breast:
11	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
12	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:

Variant related genes	Relation type
MEN1	TF binding region
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10897528	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11231873	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11231874	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11231876	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11231878	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11231879	0.81[ASN][1000 genomes]
rs12273305	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2301564	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2959656	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs504195	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7125253	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7934756	0.94[AMR][1000 genomes];1.00[ASN][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	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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 miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
8	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
13	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
14	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv825949	chr11:64577366-64591157	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64576800-64578800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:64576800-64578800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:64577200-64578800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:64577200-64578800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:64577200-64578800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:64577200-64578800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:64577200-64578800	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:64577200-64578800	Active TSS	HepG2	liver
9	chr11:64577400-64578800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:64577400-64578800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64577400-64578800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:64577400-64578800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:64577400-64578800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:64577400-64578800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:64577400-64578800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64577400-64578800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:64577400-64578800	Active TSS	Brain Hippocampus Middle	brain
18	chr11:64577400-64578800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:64577400-64578800	Active TSS	Gastric	stomach
20	chr11:64577400-64578800	Active TSS	A549	lung
21	chr11:64577400-64578800	Active TSS	Hela-S3	cervix
22	chr11:64577600-64578800	Active TSS	Colonic Mucosa	Colon
23	chr11:64577600-64578800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:64577800-64578800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:64578000-64578800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:64578000-64578800	Active TSS	Stomach Smooth Muscle	stomach
27	chr11:64578200-64578800	Flanking Active TSS	Fetal Thymus	thymus
28	chr11:64578200-64578800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:64578200-64578800	Flanking Active TSS	Dnd41	blood
30	chr11:64578200-64582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:64578200-64599000	Weak transcription	Spleen	Spleen
32	chr11:64578400-64578800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:64578400-64578800	Flanking Active TSS	Liver	Liver
34	chr11:64578400-64578800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr11:64578400-64578800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:64578400-64578800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:64578600-64578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:64578600-64578800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:64578600-64578800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:64578600-64578800	Enhancers	Primary B cells from cord blood	blood
41	chr11:64578600-64578800	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:64578600-64578800	Enhancers	Primary T cells from cord blood	blood
43	chr11:64578600-64578800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:64578600-64578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:64578600-64578800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:64578600-64578800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:64578600-64578800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:64578600-64578800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:64578600-64578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:64578600-64578800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links