Variant report

Variant	rs12801444
Chromosome Location	chr11:77693401-77693402
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77692487..77694366-chr11:77703526..77705740,2	K562	blood:
2	chr11:77683720..77686593-chr11:77691250..77693756,3	K562	blood:

Variant related genes	Relation type
ENSG00000149262	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10899415	0.85[EUR][1000 genomes]
rs10899417	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899419	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11237336	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11534589	0.82[EUR][1000 genomes]
rs11559637	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11601908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823006	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786047	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12789522	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12796422	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790238	0.85[EUR][1000 genomes]
rs1790244	0.85[EUR][1000 genomes]
rs1790245	0.85[EUR][1000 genomes]
rs1790256	0.86[EUR][1000 genomes]
rs1793329	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1793331	0.85[EUR][1000 genomes]
rs1793338	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793344	0.85[EUR][1000 genomes]
rs2187564	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276349	0.84[EUR][1000 genomes]
rs2510964	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2511454	0.82[EUR][1000 genomes]
rs3018156	0.87[EUR][1000 genomes]
rs3018158	0.82[EUR][1000 genomes]
rs3018167	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018411	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs582582	0.84[ASN][1000 genomes]
rs6592748	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6592751	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115539	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7119390	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7120314	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124835	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7939854	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7950529	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9704476	0.82[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv526268	chr11:77688774-77698524	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 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	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
2	chr11:77625800-77697400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:77649200-77701200	Weak transcription	NH-A	brain
4	chr11:77661400-77704400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:77664200-77704000	Weak transcription	NHEK	skin
6	chr11:77665800-77704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:77666000-77704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:77667600-77704200	Weak transcription	NHLF	lung
9	chr11:77668400-77701200	Weak transcription	Aorta	Aorta
10	chr11:77671200-77704200	Weak transcription	NHDF-Ad	bronchial
11	chr11:77672000-77701200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:77672000-77703800	Weak transcription	Fetal Brain Male	brain
13	chr11:77679000-77704200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:77680800-77700200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:77681000-77704200	Weak transcription	HSMMtube	muscle
16	chr11:77682000-77700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:77682800-77700800	Weak transcription	Right Ventricle	heart
18	chr11:77684200-77702400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:77688200-77694200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:77688200-77694600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:77688200-77704800	Weak transcription	Stomach Mucosa	stomach
22	chr11:77688400-77694800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:77688400-77702200	Strong transcription	Dnd41	blood
24	chr11:77688600-77702800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:77688800-77694200	Strong transcription	GM12878-XiMat	blood
26	chr11:77688800-77694800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:77688800-77695000	Strong transcription	Liver	Liver
28	chr11:77688800-77695200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:77688800-77702400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:77688800-77702400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:77688800-77703400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:77688800-77703400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:77688800-77703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:77689000-77693600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:77689000-77693600	Strong transcription	Fetal Intestine Small	intestine
36	chr11:77689000-77694200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:77689000-77694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:77689000-77702600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:77689000-77704800	Weak transcription	Fetal Heart	heart
40	chr11:77689200-77700000	Strong transcription	Primary B cells from cord blood	blood
41	chr11:77689200-77703000	Strong transcription	Primary T cells from cord blood	blood
42	chr11:77689200-77704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:77689400-77693600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:77689400-77694000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:77689400-77694200	Strong transcription	Adipose Nuclei	Adipose
46	chr11:77689400-77694200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:77689400-77694200	Strong transcription	HSMM	muscle
48	chr11:77689400-77694400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:77689400-77697400	Strong transcription	Fetal Intestine Large	intestine
50	chr11:77689400-77701400	Strong transcription	Primary B cells from peripheral blood	blood

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