Variant report

Variant	rs10949289
Chromosome Location	chr6:15261213-15261214
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	chr6:15223166..15225334-chr6:15260303..15262711,2	K562	blood:
2	chr6:15066460..15068940-chr6:15259945..15262215,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10949286	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949287	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757859	0.84[EUR][1000 genomes]
rs11760130	0.84[EUR][1000 genomes]
rs12196030	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12207467	0.84[EUR][1000 genomes]
rs55786434	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6459403	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72834541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752861	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15250000-15262000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:15251200-15279400	Weak transcription	A549	lung
3	chr6:15253200-15262000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:15253200-15262200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:15253200-15269600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:15253600-15261600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:15253600-15262200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:15253800-15261600	Enhancers	Brain Anterior Caudate	brain
9	chr6:15253800-15262000	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:15254000-15261800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:15254000-15262000	Enhancers	Brain Hippocampus Middle	brain
12	chr6:15254200-15269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:15254600-15263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:15254600-15264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:15254800-15262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:15254800-15264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:15254800-15269800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:15255200-15261600	Weak transcription	Placenta	Placenta
19	chr6:15256000-15261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:15256000-15261600	Enhancers	Brain Substantia Nigra	brain
21	chr6:15256000-15262000	Enhancers	HSMM	muscle
22	chr6:15256000-15264600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:15256200-15262800	Weak transcription	Spleen	Spleen
24	chr6:15256200-15263800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:15256400-15263200	Weak transcription	Esophagus	oesophagus
26	chr6:15256400-15263400	Weak transcription	Gastric	stomach
27	chr6:15256400-15264200	Weak transcription	HepG2	liver
28	chr6:15256400-15265400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:15256600-15262600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:15256600-15263400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:15256800-15261400	Enhancers	Fetal Heart	heart
32	chr6:15256800-15261800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:15257000-15265200	Weak transcription	Liver	Liver
34	chr6:15257000-15265200	Weak transcription	Lung	lung
35	chr6:15257000-15265200	Weak transcription	Pancreas	Pancrea
36	chr6:15257200-15263400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:15257600-15261400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:15257800-15261400	Enhancers	Brain Angular Gyrus	brain
39	chr6:15257800-15265200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:15257800-15270000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:15258000-15262600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:15258000-15263000	Weak transcription	Fetal Brain Female	brain
43	chr6:15258200-15265200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:15258200-15268600	Enhancers	NHDF-Ad	bronchial
45	chr6:15258400-15261400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:15258600-15263400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:15258800-15261600	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:15258800-15267000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:15258800-15268800	Weak transcription	Aorta	Aorta
50	chr6:15258800-15270400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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