Variant report

Variant	rs73924007
Chromosome Location	chr2:39640478-39640479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
2	chr2:39637044..39640702-chr2:39646028..39648764,3	K562	blood:
3	chr2:39638402..39640508-chr2:39641916..39643907,2	K562	blood:
4	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11893648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55737728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55962203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56327620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56962434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57765159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58899133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6544219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6750130	1.00[AMR][1000 genomes]
rs6761146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73923850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73923852	1.00[AMR][1000 genomes]
rs73923853	1.00[AMR][1000 genomes]
rs73924017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573036	0.97[AFR][1000 genomes];1.00[AMR][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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
4	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:39630800-39640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:39632400-39643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:39632600-39641400	Enhancers	Fetal Heart	heart
8	chr2:39633000-39641200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:39633000-39644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:39634400-39641000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:39634600-39643800	Weak transcription	Fetal Brain Female	brain
12	chr2:39635000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:39635400-39643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:39635600-39643400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:39636200-39642400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:39636600-39640600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
18	chr2:39636800-39641000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:39636800-39641600	Enhancers	Colon Smooth Muscle	Colon
20	chr2:39637200-39647000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:39637600-39640600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:39637600-39643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:39638000-39640600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:39638200-39641000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:39638200-39641000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:39638200-39641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:39638200-39641400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:39638200-39641400	Enhancers	Brain Anterior Caudate	brain
31	chr2:39638400-39640800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:39638400-39641200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:39638600-39641400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:39638800-39640800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:39638800-39640800	Enhancers	NH-A	brain
36	chr2:39638800-39641200	Enhancers	HSMM	muscle
37	chr2:39638800-39644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
39	chr2:39639000-39641000	Enhancers	Osteobl	bone
40	chr2:39639000-39641600	Enhancers	NHDF-Ad	bronchial
41	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
42	chr2:39639200-39640600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:39639200-39641000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:39639200-39641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:39639200-39643400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:39639200-39644800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
48	chr2:39639400-39640600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:39639400-39640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:39639400-39640800	Enhancers	Muscle Satellite Cultured Cells	--

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