Variant report

Variant	rs2723357
Chromosome Location	chr15:72121472-72121473
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	chr15:72114756..72117570-chr15:72121348..72123847,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11072341	0.84[AFR][1000 genomes]
rs1471688	0.85[AFR][1000 genomes]
rs1545825	0.87[AFR][1000 genomes]
rs1598714	0.81[AFR][1000 genomes]
rs16953747	0.95[AFR][1000 genomes]
rs1871834	0.90[YRI][hapmap]
rs1905337	0.89[AFR][1000 genomes]
rs2277544	1.00[CEU][hapmap]
rs2291279	0.81[ASN][1000 genomes]
rs2415124	0.92[AFR][1000 genomes]
rs2415125	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2415129	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2742321	0.93[AFR][1000 genomes]
rs2899774	0.83[AFR][1000 genomes]
rs2929514	0.81[AFR][1000 genomes]
rs2929515	0.91[AFR][1000 genomes]
rs2929521	0.80[AFR][1000 genomes]
rs2929522	0.85[AFR][1000 genomes]
rs2929530	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2929531	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs2929533	0.85[YRI][hapmap]
rs2957367	0.81[AFR][1000 genomes]
rs2957369	0.85[AFR][1000 genomes]
rs2957729	0.91[AFR][1000 genomes]
rs2957730	0.81[AFR][1000 genomes]
rs2957733	0.85[AFR][1000 genomes]
rs2957747	0.85[AFR][1000 genomes]
rs2957749	0.84[AFR][1000 genomes]
rs34758086	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35696756	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4511484	0.81[AFR][1000 genomes]
rs4776583	0.80[AFR][1000 genomes]
rs6494976	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs6494987	0.80[AFR][1000 genomes]
rs8031658	0.81[AFR][1000 genomes]
rs8032957	0.82[AFR][1000 genomes]
rs8034436	0.89[AFR][1000 genomes]
rs8034722	0.87[AFR][1000 genomes]
rs8182066	0.83[AFR][1000 genomes]
rs981695	1.00[YRI][hapmap];0.95[AFR][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	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr15:72110800-72122800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:72114200-72123200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr15:72114600-72122600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:72114600-72124200	Strong transcription	Placenta	Placenta
5	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
6	chr15:72114800-72122600	Strong transcription	Primary T cells from cord blood	blood
7	chr15:72114800-72124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:72115200-72123000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:72115400-72122800	Strong transcription	HSMM	muscle
10	chr15:72115800-72122600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:72115800-72122800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr15:72115800-72123200	Strong transcription	Primary B cells from cord blood	blood
13	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:72116000-72123200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:72116000-72140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:72116000-72142000	Weak transcription	Hela-S3	cervix
17	chr15:72116200-72122600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:72116200-72122600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:72116400-72121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:72116400-72122600	Strong transcription	Left Ventricle	heart
21	chr15:72116400-72122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:72116600-72122400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:72116800-72122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:72116800-72122600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:72116800-72123200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:72117000-72121800	Weak transcription	NHEK	skin
28	chr15:72117000-72122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:72117000-72122400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:72117000-72122800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:72117000-72122800	Strong transcription	Osteobl	bone
32	chr15:72117000-72123000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
34	chr15:72117200-72122800	Strong transcription	Aorta	Aorta
35	chr15:72117600-72122800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:72117800-72122200	Weak transcription	Fetal Heart	heart
37	chr15:72117800-72123000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:72118000-72122400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:72118000-72122600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:72118000-72122600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:72118000-72122600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr15:72118000-72122600	Strong transcription	Liver	Liver
43	chr15:72118000-72122600	Strong transcription	Brain Germinal Matrix	brain
44	chr15:72118000-72122600	Strong transcription	Fetal Kidney	kidney
45	chr15:72118000-72122800	Strong transcription	Brain Cingulate Gyrus	brain
46	chr15:72118000-72122800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:72118400-72122400	Strong transcription	HSMMtube	muscle
48	chr15:72118400-72122600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:72118400-72122600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:72118400-72122600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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