Variant report

Variant	rs72843888
Chromosome Location	chr2:127783846-127783847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:127783236-127783876	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr2:127782074-127783952	SK-N-SH	brain:	n/a	chr2:127783230-127783246 chr2:127783266-127783279 chr2:127783537-127783550 chr2:127782458-127782471
3	MXI1	chr2:127781934-127783919	SK-N-SH	brain:	n/a	n/a
4	RFX5	chr2:127782039-127784240	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-2	chr2:127782787-127787262	ENSG00000260163.1

Variant related genes	Relation type
ENSG00000260634	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2289236	0.93[ASN][1000 genomes]
rs2404173	0.83[EUR][1000 genomes]
rs6431218	0.91[ASN][1000 genomes]
rs67327804	0.87[EUR][1000 genomes]
rs6761879	0.93[ASN][1000 genomes]
rs7605172	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127782200-127784000	Active TSS	Brain Anterior Caudate	brain
2	chr2:127782200-127784000	Active TSS	Brain Germinal Matrix	brain
3	chr2:127782200-127784000	Active TSS	Fetal Brain Female	brain
4	chr2:127782200-127784000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:127782400-127784000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:127782400-127784000	Active TSS	A549	lung
7	chr2:127782600-127784000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:127782800-127784000	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:127782800-127784000	Active TSS	Brain Hippocampus Middle	brain
10	chr2:127783000-127784000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:127783000-127784000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:127783000-127784000	Active TSS	Brain Angular Gyrus	brain
13	chr2:127783200-127784000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:127783200-127784000	Active TSS	NHLF	lung
15	chr2:127783200-127784200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:127783400-127784000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:127783600-127784000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:127783600-127784000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr2:127783600-127784000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:127783600-127784000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:127783600-127784000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
22	chr2:127783600-127784000	Active TSS	GM12878-XiMat	blood
23	chr2:127783600-127797000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:127783800-127784000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:127783800-127784000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:127783800-127784000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:127783800-127784000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:127783800-127784000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:127783800-127784000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:127783800-127784000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:127783800-127784000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:127783800-127784000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:127783800-127784000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:127783800-127784000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:127783800-127784000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:127783800-127784000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr2:127783800-127784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:127783800-127784000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:127783800-127784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:127783800-127784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:127783800-127784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:127783800-127784000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:127783800-127784000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:127783800-127784000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr2:127783800-127784000	Bivalent Enhancer	HUVEC	blood vessel
46	chr2:127783800-127784000	Flanking Active TSS	Osteobl	bone
47	chr2:127783800-127784200	Enhancers	Fetal Brain Male	brain
48	chr2:127783800-127815600	Weak transcription	Aorta	Aorta

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