Variant report

Variant	rs12214719
Chromosome Location	chr6:15312363-15312364
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15248268..15250202-chr6:15310561..15313367,2	K562	blood:
2	chr6:15310524..15313443-chr6:15327959..15329867,2	K562	blood:

Variant related genes	Relation type
ENSG00000235488	Chromatin interaction
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10949291	0.82[EUR][1000 genomes]
rs10949292	1.00[EUR][1000 genomes]
rs10949293	0.82[EUR][1000 genomes]
rs10949295	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11759478	0.84[EUR][1000 genomes]
rs11759828	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11759847	0.82[EUR][1000 genomes]
rs12192599	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12198692	0.84[EUR][1000 genomes]
rs12198694	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12199895	0.96[EUR][1000 genomes]
rs12201889	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204124	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12205420	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12209228	0.92[EUR][1000 genomes]
rs12209453	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12209748	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12210592	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12211777	0.84[EUR][1000 genomes]
rs12212013	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12215596	0.82[EUR][1000 genomes]
rs12215740	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16876250	0.84[EUR][1000 genomes]
rs17575737	0.85[AMR][1000 genomes]
rs17619838	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17637773	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17687211	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17713010	0.82[EUR][1000 genomes]
rs55634912	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55980198	0.89[EUR][1000 genomes]
rs6902997	0.82[EUR][1000 genomes]
rs6935879	0.84[EUR][1000 genomes]
rs6938919	1.00[EUR][1000 genomes]
rs72834551	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72834590	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15300200-15312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:15301200-15312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:15301200-15313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:15301200-15313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:15303800-15312600	Weak transcription	Lung	lung
7	chr6:15305200-15313600	Weak transcription	Liver	Liver
8	chr6:15305400-15312600	Weak transcription	Fetal Brain Male	brain
9	chr6:15305600-15312600	Weak transcription	Fetal Brain Female	brain
10	chr6:15306000-15318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:15306400-15312600	Weak transcription	Spleen	Spleen
12	chr6:15306600-15312400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:15306600-15313000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:15307000-15314800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:15307400-15314400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:15307600-15314000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:15308200-15312600	Weak transcription	Thymus	Thymus
18	chr6:15308800-15314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:15309000-15312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:15309000-15313000	Weak transcription	Fetal Stomach	stomach
21	chr6:15309200-15312600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:15309200-15312600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:15309200-15312600	Weak transcription	HMEC	breast
24	chr6:15309200-15312600	Weak transcription	HSMMtube	muscle
25	chr6:15309200-15312800	Weak transcription	Brain Germinal Matrix	brain
26	chr6:15309200-15320600	Weak transcription	A549	lung
27	chr6:15309400-15312600	Weak transcription	NHEK	skin
28	chr6:15309400-15312800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:15309600-15312400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:15309600-15312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:15309600-15312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:15309600-15312800	Weak transcription	Fetal Lung	lung
33	chr6:15309600-15313000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:15309600-15313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:15309800-15312600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:15309800-15312600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:15309800-15312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:15310200-15312600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:15310200-15312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:15310200-15318200	Weak transcription	Fetal Kidney	kidney
41	chr6:15310400-15312400	Weak transcription	Primary T cells from cord blood	blood
42	chr6:15310400-15312800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:15310600-15315000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:15310800-15312600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:15310800-15312600	Weak transcription	K562	blood
46	chr6:15310800-15312800	Weak transcription	HepG2	liver
47	chr6:15311000-15312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:15311000-15312600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:15311000-15312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:15311000-15312600	Weak transcription	Brain Inferior Temporal Lobe	brain

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