Variant report

Variant	rs6724115
Chromosome Location	chr2:63631830-63631831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1109963	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11684973	0.85[EUR][1000 genomes]
rs11688997	0.83[EUR][1000 genomes]
rs11694619	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11896820	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13003009	0.82[EUR][1000 genomes]
rs13013630	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13025357	0.85[EUR][1000 genomes]
rs1446568	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2166498	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33977056	0.86[EUR][1000 genomes]
rs34763417	0.84[EUR][1000 genomes]
rs36116244	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66873455	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67037366	0.80[EUR][1000 genomes]
rs6710451	0.85[EUR][1000 genomes]
rs67257875	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67356044	0.84[EUR][1000 genomes]
rs67696856	0.86[EUR][1000 genomes]
rs67752811	0.85[EUR][1000 genomes]
rs67987962	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7591566	0.84[EUR][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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
2	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
3	chr2:63606000-63632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:63615600-63637000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:63615800-63637000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:63621400-63637000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:63621600-63633000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:63622200-63645400	Weak transcription	Liver	Liver
9	chr2:63622800-63635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:63623000-63633000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:63623400-63632800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:63624800-63642400	Weak transcription	Left Ventricle	heart
13	chr2:63626800-63632600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:63626800-63636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:63626800-63644000	Weak transcription	Gastric	stomach
16	chr2:63627000-63637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:63627600-63636600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:63628200-63635200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
20	chr2:63628600-63633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:63629800-63635200	Weak transcription	Fetal Stomach	stomach
24	chr2:63629800-63637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:63630000-63632600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:63630200-63632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:63630200-63632600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:63630600-63632800	Weak transcription	GM12878-XiMat	blood
29	chr2:63630600-63633200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:63630600-63635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:63630800-63632000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:63630800-63633200	Strong transcription	Adipose Nuclei	Adipose
33	chr2:63631400-63632400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:63631600-63632200	Weak transcription	Esophagus	oesophagus
35	chr2:63631600-63633200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:63631600-63644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:63631600-63652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:63631800-63632600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:63631800-63633400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:63631800-63633400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:63631800-63633400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:63631800-63633400	Weak transcription	Brain Anterior Caudate	brain
43	chr2:63631800-63633400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:63631800-63633400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:63631800-63633400	Weak transcription	Thymus	Thymus
46	chr2:63631800-63634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:63631800-63634600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:63631800-63635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:63631800-63635200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:63631800-63635800	Weak transcription	H1 Cell Line	embryonic stem cell

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