Variant report

Variant	rs72916714
Chromosome Location	chr11:34363452-34363453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34363297..34366211-chr11:34370921..34372477,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11603725	0.88[EUR][1000 genomes]
rs11607456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1268732	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1268733	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1270184	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61079956	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72916710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
4	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
5	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
6	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
8	esv1845235	chr11:34357429-34363950	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
2	chr11:34352600-34363800	Weak transcription	Gastric	stomach
3	chr11:34353200-34365400	Weak transcription	Pancreas	Pancrea
4	chr11:34354400-34363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34354400-34366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:34354600-34363800	Weak transcription	NH-A	brain
7	chr11:34359400-34364400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:34360200-34368400	Enhancers	Liver	Liver
9	chr11:34361000-34363800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:34361200-34364400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:34361200-34366400	Weak transcription	Esophagus	oesophagus
12	chr11:34361400-34363600	Weak transcription	HSMM	muscle
13	chr11:34361400-34364800	Enhancers	Psoas Muscle	Psoas
14	chr11:34361400-34366200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:34361400-34366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:34361400-34366600	Enhancers	HepG2	liver
17	chr11:34361600-34363800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:34361600-34364400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:34361600-34366000	Weak transcription	Fetal Brain Female	brain
20	chr11:34361600-34366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:34361600-34366400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:34361800-34364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:34361800-34370800	Weak transcription	GM12878-XiMat	blood
24	chr11:34362000-34363800	Weak transcription	Lung	lung
25	chr11:34362000-34365000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:34362000-34366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:34362000-34366000	Enhancers	A549	lung
28	chr11:34362000-34366200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:34362000-34366200	Weak transcription	Fetal Brain Male	brain
30	chr11:34362000-34366400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:34362000-34366400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:34362200-34364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:34362400-34364200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:34362400-34364200	Enhancers	Fetal Kidney	kidney
35	chr11:34362400-34364400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:34362400-34364400	Enhancers	Ovary	ovary
37	chr11:34362400-34366400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:34362600-34366800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:34362600-34370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:34362800-34364000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:34362800-34364000	Enhancers	Fetal Lung	lung
42	chr11:34362800-34364200	Enhancers	Adipose Nuclei	Adipose
43	chr11:34362800-34364400	Enhancers	Aorta	Aorta
44	chr11:34362800-34364400	Enhancers	Fetal Intestine Small	intestine
45	chr11:34362800-34364800	Enhancers	Right Atrium	heart
46	chr11:34363000-34363800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:34363000-34363800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:34363000-34364000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:34363000-34364800	Enhancers	Right Ventricle	heart
50	chr11:34363000-34365000	Enhancers	Fetal Stomach	stomach

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