Variant report

Variant	rs6738724
Chromosome Location	chr2:100273792-100273793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100252751..100253728-chr2:100273126..100274127,5	MCF-7	breast:
2	chr2:100268908..100271113-chr2:100272207..100274701,2	K562	blood:
3	chr2:100252751..100253728-chr2:100273126..100274127,6	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167554	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123790	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684088	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12620982	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712049	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712054	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029690	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1357719	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996984	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030691	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030692	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030693	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2177541	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177542	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309729	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2871316	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792129	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792130	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3792131	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4332968	0.80[EUR][1000 genomes]
rs4850910	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851220	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851221	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542884	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6745568	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746146	0.81[EUR][1000 genomes]
rs7561009	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7579222	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs868665	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9284724	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9308826	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9308827	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9678859	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9679481	0.84[AFR][1000 genomes];0.81[AMR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100255400-100285400	Weak transcription	Dnd41	blood
4	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
5	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:100260800-100274400	Weak transcription	Right Atrium	heart
8	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
9	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:100264200-100281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100266400-100277200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100268800-100282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100269600-100275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:100269600-100280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:100269800-100277200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:100270000-100278800	Weak transcription	NH-A	brain
19	chr2:100270200-100274400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:100270200-100275600	Weak transcription	Lung	lung
21	chr2:100271600-100279400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:100271600-100280200	Weak transcription	Fetal Brain Female	brain
23	chr2:100271800-100279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:100272000-100276200	Weak transcription	Fetal Brain Male	brain
25	chr2:100272200-100277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:100272800-100281800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:100273000-100274000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:100273200-100280800	Enhancers	Adipose Nuclei	Adipose
29	chr2:100273400-100273800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:100273400-100273800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:100273400-100273800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:100273400-100273800	Enhancers	Left Ventricle	heart
33	chr2:100273400-100274000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:100273400-100274000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:100273400-100274000	Enhancers	Esophagus	oesophagus
36	chr2:100273400-100274000	Enhancers	Fetal Heart	heart
37	chr2:100273400-100274000	Enhancers	Fetal Muscle Leg	muscle
38	chr2:100273400-100274000	Enhancers	Ovary	ovary
39	chr2:100273400-100274000	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:100273400-100274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:100273600-100273800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:100273600-100273800	Enhancers	Psoas Muscle	Psoas
43	chr2:100273600-100274000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:100273600-100274000	Enhancers	Fetal Lung	lung
45	chr2:100273600-100274000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:100273600-100274000	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr2:100273600-100274800	Enhancers	Colon Smooth Muscle	Colon
48	chr2:100273600-100276200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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