Variant report

Variant	rs6719495
Chromosome Location	chr2:10447242-10447243
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10446676..10451228-chr2:10454243..10458189,7	K562	blood:
2	chr2:10292318..10295172-chr2:10445381..10448141,2	K562	blood:
3	chr2:10443091..10446142-chr2:10446208..10448908,3	K562	blood:
4	chr2:10446186..10448257-chr2:10461638..10464096,2	K562	blood:
5	chr2:10446052..10448528-chr2:10452952..10455028,2	MCF-7	breast:
6	chr2:10445053..10449309-chr2:10587064..10589564,3	K562	blood:
7	chr2:10440747..10444500-chr2:10444792..10449772,7	MCF-7	breast:
8	chr2:10445536..10447284-chr2:10469328..10472288,2	MCF-7	breast:
9	chr2:10445610..10447546-chr2:10451683..10455005,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11676022	1.00[AMR][1000 genomes]
rs13389016	1.00[AMR][1000 genomes]
rs6739971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7599468	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10444800-10447800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:10445000-10447400	Enhancers	K562	blood
3	chr2:10445000-10447800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:10445000-10447800	Enhancers	Brain Substantia Nigra	brain
5	chr2:10445000-10448200	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:10445000-10448400	Enhancers	Stomach Mucosa	stomach
7	chr2:10445000-10448600	Enhancers	Small Intestine	intestine
8	chr2:10445000-10448800	Enhancers	Pancreas	Pancrea
9	chr2:10445000-10449200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:10445000-10450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:10445200-10447400	Weak transcription	Ovary	ovary
12	chr2:10445200-10448200	Enhancers	Fetal Thymus	thymus
13	chr2:10445200-10448400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:10445200-10448400	Enhancers	Liver	Liver
15	chr2:10445200-10448800	Enhancers	Lung	lung
16	chr2:10445200-10452000	Weak transcription	HMEC	breast
17	chr2:10445200-10452000	Weak transcription	NHLF	lung
18	chr2:10445400-10447800	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:10445400-10448000	Enhancers	A549	lung
20	chr2:10445400-10448400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:10445400-10450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:10445400-10452200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:10445600-10452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:10445800-10447400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:10445800-10447400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:10445800-10447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:10445800-10447400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:10445800-10447800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:10445800-10448200	Enhancers	Fetal Intestine Large	intestine
30	chr2:10445800-10448200	Enhancers	Fetal Lung	lung
31	chr2:10445800-10449600	Weak transcription	Psoas Muscle	Psoas
32	chr2:10445800-10452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:10445800-10452600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:10445800-10456400	Weak transcription	NHDF-Ad	bronchial
35	chr2:10446000-10447400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10446000-10447400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:10446000-10447400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:10446000-10447600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:10446000-10447600	Enhancers	HSMM	muscle
40	chr2:10446000-10447800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:10446000-10448000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:10446000-10448200	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:10446000-10448200	Enhancers	Placenta	Placenta
44	chr2:10446000-10448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:10446000-10449400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:10446000-10450000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:10446000-10451400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:10446000-10452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:10446000-10452200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:10446000-10452200	Weak transcription	HSMMtube	muscle

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