Variant report

Variant	rs45582434
Chromosome Location	chr2:191833070-191833071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191745363..191747195-chr2:191833040..191834954,2	MCF-7	breast:
2	chr2:191829380..191831090-chr2:191832663..191834325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235852	Chromatin interaction
ENSG00000115419	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381545	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191810400-191835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:191812600-191835200	Weak transcription	Gastric	stomach
3	chr2:191813600-191834200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:191813800-191834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:191818400-191835000	Weak transcription	Ovary	ovary
6	chr2:191823800-191835200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:191824200-191877200	Strong transcription	HSMM	muscle
8	chr2:191824600-191834200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:191824800-191835400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:191825000-191834600	Weak transcription	Fetal Kidney	kidney
12	chr2:191825000-191835600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:191825600-191834800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:191825800-191843400	Strong transcription	Fetal Thymus	thymus
17	chr2:191825800-191844800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr2:191826000-191833800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:191826000-191835600	Weak transcription	Esophagus	oesophagus
20	chr2:191826000-191844600	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:191826000-191849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:191826200-191834200	Weak transcription	NHEK	skin
23	chr2:191826200-191835000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:191826200-191845000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:191826200-191847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:191826200-191858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:191826400-191833200	Strong transcription	NH-A	brain
28	chr2:191826400-191835400	Strong transcription	Adipose Nuclei	Adipose
29	chr2:191826400-191838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:191826600-191834000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:191826600-191835400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:191826600-191835400	Weak transcription	Brain Germinal Matrix	brain
34	chr2:191826600-191837200	Strong transcription	Placenta	Placenta
35	chr2:191826600-191842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:191826600-191844800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:191826600-191845200	Strong transcription	A549	lung
38	chr2:191826600-191847400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:191826600-191847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:191826600-191850400	Strong transcription	Dnd41	blood
41	chr2:191826600-191850600	Strong transcription	Liver	Liver
42	chr2:191826600-191860400	Strong transcription	GM12878-XiMat	blood
43	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:191826800-191835200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:191826800-191843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
48	chr2:191827000-191835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:191827200-191837600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:191827400-191833800	Weak transcription	Psoas Muscle	Psoas

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