Variant report

Variant	rs2121242
Chromosome Location	chr2:113947759-113947760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113947298..113949233-chr2:113956219..113958532,2	MCF-7	breast:
2	chr2:113943577..113946396-chr2:113947110..113948817,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3791339	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791341	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45456892	0.98[ASN][1000 genomes]
rs45503603	0.80[ASN][1000 genomes]
rs45520433	1.00[ASN][1000 genomes]
rs6753019	0.95[ASN][1000 genomes]
rs6756147	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579305	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:113939400-113948400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:113939400-113949000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
10	chr2:113939600-113947800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
14	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:113940400-113950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:113941000-113950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:113941200-113949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:113941400-113950000	Weak transcription	Esophagus	oesophagus
19	chr2:113941800-113949000	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:113941800-113950000	Weak transcription	NHEK	skin
21	chr2:113942000-113948800	Genic enhancers	Primary T cells from cord blood	blood
22	chr2:113942000-113950400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:113942400-113950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
25	chr2:113942800-113961000	Strong transcription	Dnd41	blood
26	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:113943600-113950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:113943600-113956200	Weak transcription	Adipose Nuclei	Adipose
29	chr2:113943800-113948600	Weak transcription	Colonic Mucosa	Colon
30	chr2:113943800-113949600	Weak transcription	Gastric	stomach
31	chr2:113943800-113950000	Weak transcription	Lung	lung
32	chr2:113943800-113955200	Weak transcription	Stomach Mucosa	stomach
33	chr2:113943800-113956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:113944200-113948400	Weak transcription	Liver	Liver
35	chr2:113944400-113950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:113944400-113950000	Weak transcription	Placenta	Placenta
37	chr2:113944400-113950000	Weak transcription	Pancreas	Pancrea
38	chr2:113944600-113950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:113945000-113948600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:113945200-113948600	Weak transcription	Spleen	Spleen
41	chr2:113945200-113949800	Weak transcription	Fetal Stomach	stomach
42	chr2:113945400-113947800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:113945400-113948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:113945600-113947800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:113945600-113948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:113945600-113949000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:113945600-113950000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:113945600-113950200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:113945600-113951000	Weak transcription	HepG2	liver
50	chr2:113945600-113952000	Weak transcription	K562	blood

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