Variant report

Variant	rs849765
Chromosome Location	chr7:12678370-12678371
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
2	chr7:12678093..12680309-chr7:12682358..12684176,2	MCF-7	breast:
3	chr7:12675477..12677333-chr7:12677497..12680179,2	MCF-7	breast:
4	chr7:12678189..12678940-chr7:12725227..12726067,2	MCF-7	breast:
5	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
6	chr7:12676312..12680625-chr7:12682268..12685378,4	K562	blood:
7	chr7:12678176..12679062-chr7:12726190..12727083,2	MCF-7	breast:
8	chr7:12677397..12680219-chr7:12724736..12728064,3	MCF-7	breast:
9	chr7:12676914..12680238-chr7:12726517..12729212,3	K562	blood:
10	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
11	chr7:12677578..12680640-chr7:12725514..12728690,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271253	Chromatin interaction
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17166244	0.80[CHB][hapmap]
rs2056620	0.80[CHB][hapmap]
rs849762	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849763	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs849768	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs861997	0.87[JPT][hapmap];0.85[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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12669400-12680000	Weak transcription	Placenta	Placenta
4	chr7:12674000-12680400	Weak transcription	Fetal Thymus	thymus
5	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
7	chr7:12676000-12680400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:12676000-12682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12676200-12678400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:12676200-12678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:12677200-12679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:12677600-12678600	Enhancers	Stomach Mucosa	stomach
13	chr7:12677600-12679000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:12677600-12679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:12677600-12679000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:12677600-12679000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:12677800-12678400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:12677800-12678400	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:12677800-12678400	Enhancers	Fetal Kidney	kidney
20	chr7:12677800-12678400	Enhancers	Osteobl	bone
21	chr7:12677800-12678600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:12677800-12678800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:12677800-12679000	Enhancers	Primary T cells from cord blood	blood
24	chr7:12677800-12679000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:12677800-12679200	Enhancers	Primary B cells from cord blood	blood
26	chr7:12677800-12679200	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:12677800-12681000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:12678000-12678400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:12678000-12678400	Enhancers	HSMMtube	muscle
30	chr7:12678000-12678600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:12678000-12678600	Enhancers	Brain Anterior Caudate	brain
32	chr7:12678000-12679000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:12678000-12687000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:12678200-12678400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:12678200-12678600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:12678200-12678600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:12678200-12679000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:12678200-12679000	Enhancers	A549	lung
39	chr7:12678200-12679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:12678200-12679600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:12678200-12679600	Enhancers	HepG2	liver
42	chr7:12678200-12679800	Enhancers	Colon Smooth Muscle	Colon
43	chr7:12678200-12680400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:12678200-12680600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:12678200-12682600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:12678200-12683200	Weak transcription	K562	blood
47	chr7:12678200-12687000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links