Variant report

Variant	rs59716769
Chromosome Location	chr6:27722207-27722208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27516133..27518259-chr6:27720231..27723733,3	K562	blood:
2	chr6:27635070..27638218-chr6:27719785..27722837,4	K562	blood:
3	chr6:27444529..27447552-chr6:27720507..27722383,3	K562	blood:
4	chr6:27721516..27722337-chr6:27759817..27760598,2	K562	blood:
5	chr6:27571986..27574077-chr6:27721944..27723509,2	K562	blood:
6	chr6:27117530..27120483-chr6:27722122..27723771,2	K562	blood:
7	chr6:27720458..27723268-chr6:27776888..27778470,2	MCF-7	breast:
8	chr6:27480372..27481904-chr6:27721139..27723255,2	K562	blood:
9	chr6:27113190..27116258-chr6:27719531..27723256,5	K562	blood:
10	chr6:27694961..27696569-chr6:27720410..27723324,2	K562	blood:
11	chr6:27113421..27116397-chr6:27720119..27723593,4	K562	blood:
12	chr6:27650641..27652293-chr6:27722086..27724696,2	K562	blood:
13	chr6:27720750..27725347-chr6:27727186..27730834,4	MCF-7	breast:
14	chr6:27638960..27640741-chr6:27721974..27723507,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16867899	0.87[AMR][1000 genomes]
rs169263	0.85[AMR][1000 genomes]
rs187995	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200470	1.00[EUR][1000 genomes]
rs200472	1.00[EUR][1000 genomes]
rs200947	1.00[EUR][1000 genomes]
rs200955	1.00[EUR][1000 genomes]
rs200959	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200970	0.85[AMR][1000 genomes]
rs200982	1.00[EUR][1000 genomes]
rs200984	1.00[EUR][1000 genomes]
rs201003	1.00[EUR][1000 genomes]
rs201005	1.00[EUR][1000 genomes]
rs56221999	0.85[AMR][1000 genomes]
rs56262840	0.85[AMR][1000 genomes]
rs56342784	1.00[EUR][1000 genomes]
rs58700542	0.85[AMR][1000 genomes]
rs59021090	0.85[AMR][1000 genomes]
rs73739606	0.85[AMR][1000 genomes]
rs73739685	0.85[AMR][1000 genomes]
rs73742455	0.85[AMR][1000 genomes]
rs7740062	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9468198	1.00[EUR][1000 genomes]
rs9468205	1.00[EUR][1000 genomes]
rs9468228	1.00[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27719800-27722400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:27720000-27722400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27720000-27722400	Active TSS	Brain Anterior Caudate	brain
4	chr6:27720000-27722400	Active TSS	Brain Germinal Matrix	brain
5	chr6:27720000-27722600	Active TSS	Fetal Kidney	kidney
6	chr6:27720000-27723000	Active TSS	A549	lung
7	chr6:27720200-27722400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:27720200-27722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:27720200-27722400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:27720200-27722400	Active TSS	Brain Angular Gyrus	brain
11	chr6:27720200-27722400	Active TSS	Fetal Brain Male	brain
12	chr6:27720200-27722400	Active TSS	Fetal Intestine Large	intestine
13	chr6:27720200-27722400	Active TSS	Fetal Intestine Small	intestine
14	chr6:27720200-27722400	Active TSS	Ovary	ovary
15	chr6:27720200-27722400	Active TSS	Psoas Muscle	Psoas
16	chr6:27720200-27722400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:27720200-27722400	Active TSS	Rectal Smooth Muscle	rectum
18	chr6:27720200-27722400	Active TSS	Right Atrium	heart
19	chr6:27720200-27722400	Active TSS	Right Ventricle	heart
20	chr6:27720200-27722400	Active TSS	HSMMtube	muscle
21	chr6:27720200-27722400	Active TSS	NHDF-Ad	bronchial
22	chr6:27720200-27722400	Active TSS	NHLF	lung
23	chr6:27720200-27722600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:27720200-27722600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:27720200-27722600	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:27720200-27723000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:27721200-27722400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:27721200-27725000	Weak transcription	Esophagus	oesophagus
29	chr6:27721200-27725000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:27721200-27725200	Weak transcription	Gastric	stomach
31	chr6:27721800-27722400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:27721800-27722400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:27721800-27722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:27721800-27722400	Flanking Active TSS	Dnd41	blood
35	chr6:27721800-27722400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:27721800-27722600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:27722000-27722400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:27722000-27722400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr6:27722000-27722400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:27722000-27722400	Enhancers	Fetal Heart	heart
41	chr6:27722000-27722400	Flanking Active TSS	NHEK	skin
42	chr6:27722000-27722600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:27722000-27722600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:27722000-27722800	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:27722000-27723200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:27722000-27725000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:27722000-27725200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:27722200-27722400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr6:27722200-27722400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:27722200-27722400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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