Variant report

Variant	rs2187568
Chromosome Location	chr11:75201673-75201674
allele	C/T
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	REST	chr11:75201571-75201957	H1-hESC	embryonic stem cell:	n/a	chr11:75201735-75201748 chr11:75201732-75201752 chr11:75201621-75201641
2	TCF7L2	chr11:75201480-75202061	HCT-116	colon:	n/a	n/a
3	FOSL2	chr11:75201598-75202117	SK-N-SH	brain:	n/a	chr11:75201859-75201867 chr11:75201857-75201869
4	NFIC	chr11:75201571-75202063	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:75201653-75202029	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:75201668-75202090	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr11:75201667-75202101	H1-hESC	embryonic stem cell:	n/a	chr11:75201859-75201867 chr11:75201857-75201869
8	TEAD4	chr11:75201614-75202148	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:75201622-75201844	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr11:75201595-75202132	H1-hESC	embryonic stem cell:	n/a	chr11:75201818-75201829
11	TCF12	chr11:75201523-75202290	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr11:75201653-75202010	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF7L2	chr11:75201587-75201951	MCF-7	breast:	n/a	n/a
14	JUND	chr11:75201634-75202022	H1-hESC	embryonic stem cell:	n/a	chr11:75201859-75201867 chr11:75201857-75201869
15	POLR2A	chr11:75201659-75201894	HCT-116	colon:	n/a	n/a
16	JUND	chr11:75201476-75202202	SK-N-SH	brain:	n/a	chr11:75201859-75201867 chr11:75201857-75201869
17	REST	chr11:75201586-75201913	H1-hESC	embryonic stem cell:	n/a	chr11:75201735-75201748 chr11:75201732-75201752 chr11:75201621-75201641
18	ZBTB7A	chr11:75201561-75202195	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr11:75201490-75202103	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75189305..75191743-chr11:75201483..75203420,3	K562	blood:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11236444	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11600640	0.99[ASN][1000 genomes]
rs2276443	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55955041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56010007	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56207324	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56386896	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412430	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56851635	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897372	0.85[EUR][1000 genomes]
rs61897374	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61897376	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61897380	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61897406	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897410	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897413	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61897414	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897415	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897416	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897419	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125082	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7128197	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7131225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73494872	0.90[EUR][1000 genomes];0.88[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv825996	chr11:75195626-75203332	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
8	chr11:75192200-75202800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:75193000-75203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:75193800-75203200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:75194000-75203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:75194600-75203000	Weak transcription	Lung	lung
13	chr11:75196400-75202200	Strong transcription	Fetal Intestine Small	intestine
14	chr11:75198200-75203000	Weak transcription	Hela-S3	cervix
15	chr11:75198600-75203600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:75199000-75201800	Strong transcription	HepG2	liver
17	chr11:75199200-75202800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:75199400-75207000	Weak transcription	Adipose Nuclei	Adipose
19	chr11:75199400-75209800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:75200000-75202600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
22	chr11:75200200-75203200	Weak transcription	Psoas Muscle	Psoas
23	chr11:75200400-75202400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:75201000-75202000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:75201000-75202200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:75201000-75202400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:75201000-75202800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:75201000-75203000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:75201000-75203600	Enhancers	Placenta	Placenta
30	chr11:75201000-75203800	Enhancers	HMEC	breast
31	chr11:75201000-75203800	Enhancers	HUVEC	blood vessel
32	chr11:75201200-75202200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:75201200-75202200	Enhancers	HSMM	muscle
34	chr11:75201200-75202600	Enhancers	NH-A	brain
35	chr11:75201200-75203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:75201200-75203600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:75201200-75203600	Enhancers	A549	lung
38	chr11:75201200-75203800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:75201200-75203800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:75201400-75201800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr11:75201400-75202000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:75201400-75202000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr11:75201400-75202000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:75201400-75202000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:75201400-75202200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:75201400-75202200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:75201400-75202200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:75201400-75202200	Enhancers	Osteobl	bone
49	chr11:75201400-75202400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:75201400-75202400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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