Variant report

Variant	rs11038826
Chromosome Location	chr11:46259550-46259551
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	TEAD4	chr11:46258643-46259557	K562	blood:	n/a	n/a
2	GABPA	chr11:46259485-46260116	K562	blood:	n/a	chr11:46259708-46259722
3	POLR2A	chr11:46258568-46261134	K562	blood:	n/a	n/a
4	MAX	chr11:46259211-46260109	HepG2	liver:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
5	POLR2A	chr11:46259126-46260064	A549	lung:	n/a	n/a
6	CTCF	chr11:46259540-46259690	HMF	breast:	n/a	n/a
7	MAX	chr11:46258921-46260385	ECC-1	luminal epithelium:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
8	TAF1	chr11:46259154-46260104	K562	blood:	n/a	n/a
9	SIN3AK20	chr11:46258776-46260008	PANC-1	pancreas:	n/a	n/a
10	TCF7L2	chr11:46258612-46259986	HCT-116	colon:	n/a	n/a
11	MAX	chr11:46258811-46260296	H1-hESC	embryonic stem cell:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
12	MAX	chr11:46258627-46261188	NB4	blood:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
13	E2F6	chr11:46258818-46260097	H1-hESC	embryonic stem cell:	n/a	chr11:46259181-46259190 chr11:46259680-46259690
14	MAX	chr11:46258447-46261332	A549	lung:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
15	ELF1	chr11:46259081-46259994	K562	blood:	n/a	chr11:46259629-46259641
16	RCOR1	chr11:46258645-46261145	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:46258532-46261196	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr11:46258696-46261039	Hela-S3	cervix:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
19	POLR2A	chr11:46258605-46259711	U87	brain:	n/a	n/a
20	MYC	chr11:46258688-46259562	HUVEC	blood vessel:	n/a	chr11:46259360-46259367
21	TAF1	chr11:46258631-46259581	Hela-S3	cervix:	n/a	n/a
22	HA-E2F1	chr11:46258655-46260240	Hela-S3	cervix:	n/a	chr11:46259181-46259190 chr11:46259680-46259690 chr11:46260149-46260156
23	MAX	chr11:46258968-46260015	K562	blood:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
24	MAX	chr11:46258985-46260404	ECC-1	luminal epithelium:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
25	MAZ	chr11:46258557-46261103	Hela-S3	cervix:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
26	E2F6	chr11:46258551-46261175	K562	blood:	n/a	chr11:46259181-46259190 chr11:46259680-46259690 chr11:46260149-46260156
27	MXI1	chr11:46258615-46261087	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr11:46259346-46261203	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr11:46259506-46260205	IMR90	lung:	n/a	chr11:46259664-46259677
30	E2F6	chr11:46258753-46260357	H1-hESC	embryonic stem cell:	n/a	chr11:46259181-46259190 chr11:46259680-46259690 chr11:46260149-46260156
31	JUND	chr11:46258571-46259611	A549	lung:	n/a	chr11:46258837-46258848 chr11:46259180-46259189
32	EGR1	chr11:46259218-46259679	K562	blood:	n/a	chr11:46259286-46259293
33	POLR2A	chr11:46258605-46259691	U87	brain:	n/a	n/a
34	TAL1	chr11:46258632-46259776	K562	blood:	n/a	n/a
35	ZBTB7A	chr11:46259084-46259890	ECC-1	luminal epithelium:	n/a	n/a
36	SETDB1	chr11:46259017-46260057	K562	blood:	n/a	n/a
37	YY1	chr11:46258494-46260001	K562	blood:	n/a	chr11:46259281-46259292 chr11:46259017-46259029 chr11:46259019-46259029 chr11:46259683-46259697 chr11:46259622-46259636 chr11:46259683-46259692 chr11:46259181-46259190
38	MAX	chr11:46258557-46261109	Hela-S3	cervix:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
39	GTF2F1	chr11:46258569-46259575	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:46258948-46259661	MCF-7	breast:	n/a	n/a
41	MYC	chr11:46258749-46260297	A549	lung:	n/a	chr11:46259360-46259367 chr11:46259606-46259616
42	ZKSCAN1	chr11:46258646-46261070	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:46259530-46259864	IMR90	lung:	n/a	chr11:46259831-46259844
44	POLR2A	chr11:46258608-46260371	HUVEC	blood vessel:	n/a	n/a
45	TBP	chr11:46258525-46260275	K562	blood:	n/a	n/a
46	SIN3AK20	chr11:46259200-46259557	K562	blood:	n/a	n/a
47	POLR2A	chr11:46258631-46259891	Gliobla	brain:	n/a	n/a
48	E2F1	chr11:46259036-46260460	Hela-S3	cervix:	n/a	chr11:46259181-46259190 chr11:46259680-46259690 chr11:46260149-46260156
49	POLR2A	chr11:46258541-46261143	K562	blood:	n/a	n/a
50	HEY1	chr11:46258461-46260638	K562	blood:	n/a	chr11:46259284-46259299

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
3	chr11:46259358..46259932-chr16:84733354..84734056,2	Hela-S3	cervix:
4	chr11:46258976..46259847-chr14:35873827..35874346,2	Hela-S3	cervix:
5	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
6	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
7	chr11:46258931..46259881-chr5:142601867..142602490,2	NB4	blood:
8	chr11:46259030..46259945-chr5:43483727..43484560,2	Hela-S3	cervix:
9	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
10	chr11:46259025..46259855-chr5:38556573..38557160,2	Hela-S3	cervix:
11	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
12	chr11:46257955..46261525-chr11:46335370..46339844,7	K562	blood:
13	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
14	chr11:46259536..46260396-chr14:23503731..23504456,2	Hela-S3	cervix:
15	chr11:46259352..46260231-chr7:100026866..100027759,2	Hela-S3	cervix:
16	chr11:46259169..46259902-chrX:48432781..48433319,2	Hela-S3	cervix:
17	chr11:46258260..46260369-chr11:46866327..46868431,2	MCF-7	breast:
18	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
19	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
20	chr11:46259280..46259781-chr14:31494628..31495547,2	Hela-S3	cervix:
21	chr11:46142542..46143432-chr11:46258888..46259731,2	MCF-7	breast:
22	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
23	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
24	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
25	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
26	chr11:46015176..46017973-chr11:46257702..46259561,2	K562	blood:
27	chr11:46259392..46259949-chr19:55918647..55919339,2	Hela-S3	cervix:
28	chr11:46257536..46260038-chr11:46298629..46301325,2	K562	blood:

Variant related genes	Relation type
ENSG00000254639	TF binding region
ENSG00000108106	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000102317	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000113594	Chromatin interaction
ENSG00000204620	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000103194	Chromatin interaction
ENSG00000254653	Chromatin interaction
ENSG00000244968	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000100804	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10838586	0.85[ASN][1000 genomes]
rs10838589	0.85[ASN][1000 genomes]
rs11038831	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038834	0.87[ASN][1000 genomes]
rs12223774	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225704	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7128258	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46258000-46260000	Enhancers	GM12878-XiMat	blood
2	chr11:46258200-46261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:46258400-46261400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:46258600-46259600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:46258600-46259600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:46258600-46259600	Flanking Active TSS	HUVEC	blood vessel
7	chr11:46258600-46259800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:46258600-46260000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:46258600-46260000	Active TSS	Brain Anterior Caudate	brain
10	chr11:46258600-46260600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:46258600-46260600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:46258600-46261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:46258600-46261800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:46258800-46259600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr11:46258800-46259600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr11:46258800-46260000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:46258800-46260000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:46258800-46260000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:46258800-46260000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr11:46258800-46260000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr11:46258800-46260000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr11:46258800-46260200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:46258800-46260200	Active TSS	A549	lung
24	chr11:46258800-46260400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:46258800-46260800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
26	chr11:46258800-46260800	Bivalent/Poised TSS	Fetal Kidney	kidney
27	chr11:46258800-46261000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:46258800-46261200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:46259000-46259600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:46259000-46259600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:46259000-46259600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr11:46259000-46259600	Flanking Active TSS	Pancreas	Pancrea
33	chr11:46259000-46259600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr11:46259000-46259800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:46259000-46259800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr11:46259000-46259800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
37	chr11:46259000-46260000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:46259000-46260000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:46259000-46260000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr11:46259000-46260000	Bivalent/Poised TSS	HepG2	liver
41	chr11:46259000-46260200	Active TSS	Brain Angular Gyrus	brain
42	chr11:46259000-46260200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:46259000-46260600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:46259000-46260600	Active TSS	Right Atrium	heart
45	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:46259000-46260800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr11:46259000-46261000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:46259200-46259600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:46259200-46259600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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