Variant report

Variant	rs10949290
Chromosome Location	chr6:15263011-15263012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15262111..15263681-chr6:15357527..15359093,2	K562	blood:
2	chr6:15220573..15223155-chr6:15261429..15263583,2	MCF-7	breast:

Extended variants
information (count: 16 )
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];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757859	0.83[EUR][1000 genomes]
rs11760130	0.83[EUR][1000 genomes]
rs12196030	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12207467	0.83[EUR][1000 genomes]
rs55786434	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6459403	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72834541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752861	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15251200-15279400	Weak transcription	A549	lung
2	chr6:15253200-15269600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:15254200-15269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:15254600-15263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:15254600-15264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:15254800-15264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:15254800-15269800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:15256000-15264600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:15256200-15263800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:15256400-15263200	Weak transcription	Esophagus	oesophagus
11	chr6:15256400-15263400	Weak transcription	Gastric	stomach
12	chr6:15256400-15264200	Weak transcription	HepG2	liver
13	chr6:15256400-15265400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:15256600-15263400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:15257000-15265200	Weak transcription	Liver	Liver
16	chr6:15257000-15265200	Weak transcription	Lung	lung
17	chr6:15257000-15265200	Weak transcription	Pancreas	Pancrea
18	chr6:15257200-15263400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:15257800-15265200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:15257800-15270000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:15258200-15265200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:15258200-15268600	Enhancers	NHDF-Ad	bronchial
23	chr6:15258600-15263400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:15258800-15267000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:15258800-15268800	Weak transcription	Aorta	Aorta
26	chr6:15258800-15270400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:15259000-15264200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:15259200-15263200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:15259400-15264400	Weak transcription	Fetal Kidney	kidney
30	chr6:15259800-15264800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:15260000-15263200	Weak transcription	Left Ventricle	heart
32	chr6:15260600-15264200	Weak transcription	NHEK	skin
33	chr6:15260800-15263200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:15260800-15263400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:15260800-15264200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:15260800-15265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:15261000-15263200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:15261000-15263200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:15261000-15264400	Weak transcription	Stomach Mucosa	stomach
40	chr6:15261000-15283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:15261200-15263200	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:15261200-15264200	Weak transcription	HSMMtube	muscle
43	chr6:15261200-15275000	Weak transcription	HMEC	breast
44	chr6:15261400-15263400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:15261400-15264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:15261400-15264200	Weak transcription	Brain Angular Gyrus	brain
47	chr6:15261400-15264200	Weak transcription	Fetal Heart	heart
48	chr6:15261400-15265200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:15261600-15263200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:15261600-15263200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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