Variant report

Variant	rs12285285
Chromosome Location	chr11:17316518-17316519
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	chr11:17297082..17301177-chr11:17313853..17317788,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNJ11-5	chr11:17315881-17316560	l_439_chr11:17315763-17328093_testes

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10466383	0.86[AFR][1000 genomes]
rs10466420	0.86[AFR][1000 genomes]
rs11024237	1.00[AFR][1000 genomes]
rs12272752	1.00[AFR][1000 genomes]
rs12294998	1.00[AFR][1000 genomes]
rs61762001	0.83[AFR][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1799284	chr11:17299390-17343486	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
2	chr11:17299000-17323200	Weak transcription	Ovary	ovary
3	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
4	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
7	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
9	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
10	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:17299400-17317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:17299400-17317400	Weak transcription	HSMM	muscle
15	chr11:17299400-17318000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:17299400-17318000	Weak transcription	NH-A	brain
17	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
20	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
22	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
23	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
24	chr11:17302200-17321800	Weak transcription	NHEK	skin
25	chr11:17302600-17329600	Weak transcription	K562	blood
26	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
29	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:17308200-17317200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:17308200-17318000	Weak transcription	Adipose Nuclei	Adipose
32	chr11:17308200-17323000	Weak transcription	Lung	lung
33	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:17308200-17357600	Weak transcription	HepG2	liver
36	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
37	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:17308400-17317800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17308400-17335000	Weak transcription	NHLF	lung
41	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:17308600-17318000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:17308800-17331800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:17308800-17331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:17309000-17317600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:17309000-17317800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:17309000-17317800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:17309000-17324200	Weak transcription	Brain Germinal Matrix	brain
50	chr11:17309000-17327400	Weak transcription	Fetal Brain Female	brain

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