Variant report

Variant	rs10181991
Chromosome Location	chr2:182790380-182790381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182790090..182792065-chr2:182942180..182943718,2	MCF-7	breast:
2	chr2:182789974..182793109-chr2:182797646..182800395,3	K562	blood:
3	chr2:182788506..182790558-chr2:182882645..182885587,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11887558	1.00[AMR][1000 genomes]
rs11890230	1.00[AMR][1000 genomes]
rs11894897	1.00[AMR][1000 genomes]
rs11896011	1.00[AMR][1000 genomes]
rs11898245	1.00[AMR][1000 genomes]
rs11903559	1.00[AMR][1000 genomes]
rs13384392	1.00[AMR][1000 genomes]
rs13384479	1.00[AMR][1000 genomes]
rs13395789	1.00[AMR][1000 genomes]
rs13405727	1.00[AMR][1000 genomes]
rs13407143	1.00[AMR][1000 genomes]
rs13419020	1.00[AMR][1000 genomes]
rs16867501	1.00[AMR][1000 genomes]
rs73032631	1.00[AMR][1000 genomes]
rs73032655	1.00[AMR][1000 genomes]
rs73032661	1.00[AMR][1000 genomes]
rs73032669	1.00[AMR][1000 genomes]
rs73032673	1.00[AMR][1000 genomes]
rs73032699	1.00[AMR][1000 genomes]
rs73038912	1.00[AMR][1000 genomes]
rs73038938	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
3	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
4	chr2:182769400-182795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:182769600-182795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:182769600-182795800	Strong transcription	Dnd41	blood
7	chr2:182772400-182790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:182774000-182790800	Strong transcription	HMEC	breast
9	chr2:182774600-182795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:182775800-182792200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:182775800-182792600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:182775800-182795800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:182775800-182795800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:182776000-182795800	Strong transcription	Hela-S3	cervix
15	chr2:182776200-182793200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:182776800-182791600	Strong transcription	Fetal Intestine Large	intestine
17	chr2:182778800-182792800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:182778800-182792800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:182779000-182790800	Strong transcription	HSMMtube	muscle
20	chr2:182779600-182796000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:182779800-182795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:182780400-182791200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:182781000-182796000	Weak transcription	Psoas Muscle	Psoas
24	chr2:182781000-182796400	Weak transcription	Esophagus	oesophagus
25	chr2:182781200-182795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:182781400-182791000	Weak transcription	Fetal Brain Male	brain
27	chr2:182781400-182793200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:182781400-182794200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:182781600-182793200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:182781800-182791200	Strong transcription	NHLF	lung
31	chr2:182781800-182796000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:182781800-182797000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:182782400-182790600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:182782400-182790600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr2:182782400-182790800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:182782400-182790800	Strong transcription	HSMM	muscle
37	chr2:182782400-182790800	Strong transcription	NHEK	skin
38	chr2:182782400-182795600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:182782600-182791000	Strong transcription	HUVEC	blood vessel
40	chr2:182782600-182795800	Weak transcription	Fetal Brain Female	brain
41	chr2:182782600-182812800	Weak transcription	Aorta	Aorta
42	chr2:182782800-182791400	Strong transcription	NH-A	brain
43	chr2:182782800-182792000	Weak transcription	Ovary	ovary
44	chr2:182783000-182791000	Strong transcription	HepG2	liver
45	chr2:182784200-182791800	Weak transcription	Brain Angular Gyrus	brain
46	chr2:182784200-182792400	Weak transcription	Small Intestine	intestine
47	chr2:182784200-182796000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:182784400-182791600	Weak transcription	Brain Germinal Matrix	brain
49	chr2:182784400-182795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:182785200-182794200	Weak transcription	Brain Cingulate Gyrus	brain

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