Variant report

Variant	rs56412430
Chromosome Location	chr11:75190413-75190414
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	TCF12	chr11:75189779-75190480	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr11:75189653-75190574	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr11:75189931-75190502	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75189305..75191743-chr11:75201483..75203420,3	K562	blood:
2	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
3	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11236444	0.90[EUR][1000 genomes]
rs11600640	0.88[ASN][1000 genomes]
rs2187568	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276443	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55955041	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56010007	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56207324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56386896	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];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61897372	0.85[EUR][1000 genomes]
rs61897374	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897376	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897380	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897406	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897410	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61897411	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61897413	0.97[EUR][1000 genomes]
rs61897414	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897415	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897416	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897419	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7125082	0.97[EUR][1000 genomes]
rs7128197	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131225	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73494872	0.90[EUR][1000 genomes];0.98[ASN][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	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75182400-75192400	Strong transcription	Fetal Intestine Large	intestine
2	chr11:75187000-75193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:75187000-75194800	Strong transcription	Fetal Intestine Small	intestine
4	chr11:75187000-75201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:75187200-75191000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:75187200-75201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:75187400-75190600	Weak transcription	Right Atrium	heart
9	chr11:75187400-75191400	Weak transcription	GM12878-XiMat	blood
10	chr11:75187400-75192000	Weak transcription	Thymus	Thymus
11	chr11:75187400-75192200	Strong transcription	HepG2	liver
12	chr11:75187400-75198200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:75187600-75192600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:75187600-75201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:75187800-75192800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:75187800-75201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75188000-75201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:75188200-75200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:75188400-75191000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:75188400-75191400	Weak transcription	Psoas Muscle	Psoas
26	chr11:75188400-75191400	Weak transcription	Right Ventricle	heart
27	chr11:75188400-75194000	Enhancers	Fetal Brain Male	brain
28	chr11:75188400-75201200	Weak transcription	HSMM	muscle
29	chr11:75188400-75201400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:75188400-75201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:75188400-75201600	Weak transcription	HSMMtube	muscle
32	chr11:75188600-75193000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:75188600-75201600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:75188800-75192200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:75188800-75192200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:75188800-75193800	Weak transcription	Lung	lung
37	chr11:75189000-75191400	Weak transcription	Pancreas	Pancrea
38	chr11:75189000-75192800	Weak transcription	Spleen	Spleen
39	chr11:75189400-75190800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:75189400-75193200	Enhancers	Fetal Brain Female	brain
41	chr11:75189800-75191400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:75190000-75190600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:75190000-75190600	Enhancers	Fetal Muscle Trunk	muscle
44	chr11:75190000-75190800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:75190000-75191000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:75190000-75191000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:75190000-75191000	Genic enhancers	K562	blood
48	chr11:75190000-75192600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:75190000-75193200	Weak transcription	Adipose Nuclei	Adipose
50	chr11:75190000-75194600	Enhancers	Fetal Muscle Leg	muscle

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