Variant report

Variant	rs794785
Chromosome Location	chr6:15305142-15305143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15246564..15248126-chr6:15304464..15306021,2	K562	blood:
2	chr6:15303140..15305494-chr6:15308085..15310163,3	K562	blood:
3	chr6:15243069..15245531-chr6:15303804..15307627,3	K562	blood:
4	chr6:15303539..15305242-chr6:15305641..15308012,2	K562	blood:

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2282816	0.90[JPT][hapmap]
rs2282823	1.00[JPT][hapmap]
rs2299055	1.00[JPT][hapmap]
rs3857641	0.89[ASW][hapmap]
rs3915734	0.90[JPT][hapmap]
rs3954	0.89[CHB][hapmap]
rs56156626	0.86[AFR][1000 genomes]
rs58053975	0.86[AFR][1000 genomes]
rs707828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs707835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707836	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707838	0.90[CHB][hapmap]
rs707839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73361549	0.84[AFR][1000 genomes]
rs73361569	0.86[AFR][1000 genomes]
rs760658	0.90[JPT][hapmap]
rs760659	0.90[JPT][hapmap]
rs794775	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]
rs794776	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794779	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794784	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794786	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794788	0.81[CHB][hapmap]
rs794789	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs794792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794793	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs794795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794797	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9383048	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][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	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15290600-15309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:15295000-15305600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:15295800-15311400	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:15296600-15305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:15300200-15308400	Weak transcription	A549	lung
6	chr6:15300200-15312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:15300400-15308000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:15300800-15305400	Weak transcription	Fetal Stomach	stomach
10	chr6:15300800-15305400	Weak transcription	NH-A	brain
11	chr6:15300800-15305400	Weak transcription	Osteobl	bone
12	chr6:15300800-15308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:15300800-15308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:15300800-15308600	Weak transcription	NHEK	skin
15	chr6:15300800-15310600	Weak transcription	HSMM	muscle
16	chr6:15301000-15307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:15301200-15312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:15301200-15313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:15301200-15313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:15301800-15308000	Weak transcription	Fetal Kidney	kidney
21	chr6:15302000-15305400	Weak transcription	HSMMtube	muscle
22	chr6:15302200-15305400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:15302400-15305400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:15302400-15305800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:15302400-15306000	Enhancers	Psoas Muscle	Psoas
26	chr6:15302400-15308800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:15302600-15309800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:15303200-15305600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:15303200-15305600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:15303200-15306000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:15303200-15306400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:15303400-15305400	Enhancers	HepG2	liver
33	chr6:15303400-15305600	Enhancers	Colon Smooth Muscle	Colon
34	chr6:15303400-15305600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:15303400-15305600	Enhancers	Gastric	stomach
36	chr6:15303400-15305800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:15303400-15305800	Enhancers	Pancreas	Pancrea
38	chr6:15303400-15305800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:15303400-15306000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:15303400-15306000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:15303400-15306000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:15303400-15306000	Enhancers	Brain Anterior Caudate	brain
43	chr6:15303400-15306000	Enhancers	Right Atrium	heart
44	chr6:15303400-15306000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:15303400-15306200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:15303400-15306200	Enhancers	Stomach Mucosa	stomach
47	chr6:15303400-15306400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:15303400-15306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:15303400-15306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:15303400-15306400	Enhancers	HUES48 Cell Line	embryonic stem cell

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