Variant report

Variant	rs3791748
Chromosome Location	chr2:9729815-9729816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
2	chr2:9683590..9686533-chr2:9728369..9731306,2	K562	blood:
3	chr2:9728061..9730282-chr2:9768786..9771386,2	K562	blood:
4	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:
5	chr2:9728687..9732312-chr2:9769303..9771516,5	MCF-7	breast:
6	chr2:9729206..9731620-chr2:9742153..9744799,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169269	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210225	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929590	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1111976	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11674769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887863	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11890807	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11902264	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12476008	1.00[JPT][hapmap]
rs12692388	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13415136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867062	1.00[JPT][hapmap]
rs16867074	1.00[JPT][hapmap]
rs2357157	0.97[ASN][1000 genomes]
rs3951115	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4668625	1.00[YRI][hapmap]
rs4669400	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119427	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6432018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432019	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432020	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432024	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6432025	1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs6706227	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745213	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556678	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556757	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558086	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7565646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596929	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597961	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
3	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:9716000-9730000	Weak transcription	Right Ventricle	heart
6	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
7	chr2:9718000-9731600	Weak transcription	Fetal Heart	heart
8	chr2:9719200-9747800	Weak transcription	Lung	lung
9	chr2:9719400-9733600	Weak transcription	Right Atrium	heart
10	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
11	chr2:9720000-9730200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:9720000-9730200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:9720000-9731200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:9720000-9732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:9720400-9733000	Strong transcription	NHDF-Ad	bronchial
16	chr2:9720400-9734200	Weak transcription	Small Intestine	intestine
17	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:9720600-9730000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:9721800-9732200	Strong transcription	Fetal Thymus	thymus
20	chr2:9722800-9731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:9722800-9732400	Strong transcription	Fetal Intestine Large	intestine
22	chr2:9722800-9732600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:9723000-9730400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:9723000-9730400	Strong transcription	HSMMtube	muscle
26	chr2:9723000-9730400	Strong transcription	Osteobl	bone
27	chr2:9723000-9732200	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:9723000-9732600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:9723000-9733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:9723200-9731200	Strong transcription	Fetal Brain Female	brain
31	chr2:9723400-9730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:9723400-9731000	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:9723400-9732200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:9723400-9732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:9723400-9732200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:9723400-9732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:9723400-9732400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:9723400-9732400	Strong transcription	HMEC	breast
39	chr2:9723400-9732600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:9723400-9732600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:9723400-9733400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:9723400-9736200	Strong transcription	Dnd41	blood
43	chr2:9723600-9730400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:9723600-9730400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:9723600-9730400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:9723600-9730400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:9723600-9730600	Strong transcription	Brain Germinal Matrix	brain
48	chr2:9723600-9730600	Strong transcription	NHLF	lung
49	chr2:9723600-9731000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:9723600-9731000	Strong transcription	NH-A	brain

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