Variant report

Variant	rs57240681
Chromosome Location	chr11:34272688-34272689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34270206..34274230-chr11:34378598..34380931,3	MCF-7	breast:
2	chr11:34269717..34273624-chr11:34376687..34380089,5	MCF-7	breast:
3	chr11:34261414..34263986-chr11:34271757..34273793,2	K562	blood:
4	chr11:34229883..34232389-chr11:34271160..34273308,2	K562	blood:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11032580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11032581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11032583	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12418981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16925360	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61435083	0.84[EUR][1000 genomes]
rs7122866	0.84[EUR][1000 genomes]
rs7941113	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34266400-34272800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:34267000-34272800	Weak transcription	Spleen	Spleen
3	chr11:34267000-34273000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:34267200-34272800	Weak transcription	Gastric	stomach
5	chr11:34267400-34272800	Weak transcription	Pancreas	Pancrea
6	chr11:34267400-34273600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:34267600-34272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:34267800-34272800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:34267800-34272800	Weak transcription	Right Ventricle	heart
10	chr11:34268200-34273000	Enhancers	Thymus	Thymus
11	chr11:34268200-34274800	Enhancers	Fetal Thymus	thymus
12	chr11:34268600-34272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:34268800-34272800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:34268800-34274000	Enhancers	HepG2	liver
15	chr11:34268800-34274200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:34269000-34272800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:34269800-34272800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:34269800-34272800	Enhancers	Hela-S3	cervix
19	chr11:34270200-34273800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:34270400-34273600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:34270400-34273600	Enhancers	Colon Smooth Muscle	Colon
22	chr11:34270600-34272800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:34270600-34274600	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:34270800-34272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:34270800-34273000	Weak transcription	Small Intestine	intestine
26	chr11:34271000-34273800	Enhancers	Fetal Muscle Leg	muscle
27	chr11:34271200-34273800	Enhancers	Left Ventricle	heart
28	chr11:34271400-34272800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:34271400-34272800	Weak transcription	Esophagus	oesophagus
30	chr11:34271400-34273800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:34271600-34272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:34271600-34272800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:34271600-34272800	Enhancers	NHEK	skin
34	chr11:34272000-34272800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:34272000-34273000	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:34272000-34273800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:34272200-34272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:34272200-34272800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:34272200-34272800	Enhancers	Right Atrium	heart
40	chr11:34272200-34273000	Enhancers	Primary B cells from cord blood	blood
41	chr11:34272200-34273000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:34272200-34273000	Enhancers	HSMMtube	muscle
43	chr11:34272200-34273600	Enhancers	K562	blood
44	chr11:34272200-34273800	Enhancers	HMEC	breast
45	chr11:34272200-34273800	Enhancers	NHLF	lung
46	chr11:34272200-34274200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:34272200-34274600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:34272400-34272800	Enhancers	HUVEC	blood vessel
49	chr11:34272400-34272800	Enhancers	NHDF-Ad	bronchial
50	chr11:34272400-34273000	Enhancers	Aorta	Aorta

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