Variant report

Variant	rs794775
Chromosome Location	chr6:15287691-15287692
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:164714985..164717486-chr6:15287245..15290158,2	MCF-7	breast:
2	chr6:15246208..15248645-chr6:15286361..15288344,2	K562	blood:
3	chr6:15246208..15249749-chr6:15286361..15290108,4	K562	blood:
4	chr6:15287052..15289953-chr6:15290312..15293224,4	K562	blood:
5	chr6:15277792..15279699-chr6:15286408..15288294,2	K562	blood:
6	chr6:15210299..15212880-chr6:15287684..15289581,2	K562	blood:
7	chr6:15287044..15289498-chr6:15293703..15295568,2	K562	blood:

Variant related genes	Relation type
ENSG00000235488	Chromatin interaction
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12206745	1.00[YRI][hapmap]
rs12215596	1.00[YRI][hapmap]
rs17619838	1.00[YRI][hapmap]
rs17713010	1.00[YRI][hapmap]
rs2282823	0.91[JPT][hapmap]
rs2299055	0.90[JPT][hapmap]
rs707828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs707831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707838	0.81[CHB][hapmap]
rs707839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs794776	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794779	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794784	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794786	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs794788	0.81[CHB][hapmap]
rs794789	0.81[CHB][hapmap]
rs794792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794793	0.81[CHB][hapmap]
rs794795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794797	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9383048	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv601006	chr6:15275305-15300590	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15269200-15290000	Weak transcription	NHLF	lung
2	chr6:15270200-15288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:15275400-15287800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:15276800-15287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:15276800-15293200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:15277200-15289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:15277200-15294000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:15280200-15293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:15280400-15288800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:15281000-15287800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:15281200-15289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:15281400-15288200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:15281400-15288200	Weak transcription	Right Ventricle	heart
14	chr6:15281400-15289000	Weak transcription	Lung	lung
15	chr6:15281400-15293400	Weak transcription	Esophagus	oesophagus
16	chr6:15281400-15296400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:15281600-15294000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:15281800-15293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:15281800-15300200	Weak transcription	Fetal Stomach	stomach
20	chr6:15282000-15288000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:15282000-15288000	Weak transcription	Small Intestine	intestine
22	chr6:15282000-15288200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:15282000-15288200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:15282200-15287800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:15282200-15288800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:15282200-15289000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:15282200-15289200	Weak transcription	Right Atrium	heart
28	chr6:15282400-15287800	Weak transcription	Spleen	Spleen
29	chr6:15282400-15288000	Weak transcription	Pancreas	Pancrea
30	chr6:15282400-15289200	Weak transcription	Ovary	ovary
31	chr6:15282400-15299400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:15282600-15287800	Weak transcription	Psoas Muscle	Psoas
33	chr6:15282600-15288000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:15282600-15288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:15282600-15290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:15282600-15296400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:15282800-15288000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:15282800-15290400	Weak transcription	Fetal Kidney	kidney
39	chr6:15284600-15290200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:15285200-15287800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:15285200-15288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:15285200-15296000	Weak transcription	Liver	Liver
43	chr6:15285200-15296400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:15285200-15299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:15285200-15299400	Weak transcription	A549	lung
46	chr6:15285400-15287800	Weak transcription	Stomach Mucosa	stomach
47	chr6:15285400-15288800	Weak transcription	NHDF-Ad	bronchial
48	chr6:15285400-15289000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:15285400-15289200	Weak transcription	Hela-S3	cervix
50	chr6:15285400-15289800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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