Variant report

Variant	rs4727614
Chromosome Location	chr7:104600854-104600855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104597662..104599339-chr7:104600006..104602657,2	K562	blood:
2	chr7:104595365..104601201-chr7:104602410..104607281,8	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10244764	0.81[JPT][hapmap]
rs10245676	0.81[JPT][hapmap]
rs10266287	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10269027	0.81[JPT][hapmap]
rs10279486	0.81[JPT][hapmap]
rs10487150	1.00[JPT][hapmap]
rs10808140	0.81[JPT][hapmap]
rs10953460	0.84[ASN][1000 genomes]
rs10953468	1.00[JPT][hapmap]
rs1142	0.81[JPT][hapmap]
rs1144	1.00[JPT][hapmap]
rs11973516	0.80[JPT][hapmap]
rs12534140	0.81[JPT][hapmap]
rs2192932	0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240455	0.81[JPT][hapmap]
rs2299297	0.81[JPT][hapmap]
rs2299304	1.00[JPT][hapmap]
rs2430484	0.92[ASN][1000 genomes]
rs2430486	0.92[ASN][1000 genomes]
rs2470938	0.92[ASN][1000 genomes]
rs2470939	0.92[ASN][1000 genomes]
rs2470940	0.92[ASN][1000 genomes]
rs2470941	0.90[ASN][1000 genomes]
rs2470942	0.85[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.92[ASN][1000 genomes]
rs2470943	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs2470944	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs2470945	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs2470947	0.94[ASN][1000 genomes]
rs2470948	0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs2470949	0.94[ASN][1000 genomes]
rs2470950	0.93[ASN][1000 genomes]
rs3213742	0.85[EUR][1000 genomes]
rs3823752	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730067	0.81[JPT][hapmap]
rs4730068	0.81[JPT][hapmap]
rs6948885	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6950620	1.00[JPT][hapmap]
rs6955349	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6965384	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967587	1.00[JPT][hapmap]
rs7776707	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7785197	0.81[JPT][hapmap]
rs7797912	1.00[JPT][hapmap]
rs875568	0.81[JPT][hapmap]
rs916705	0.94[ASN][1000 genomes]
rs960437	0.81[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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104591600-104604600	Weak transcription	Fetal Kidney	kidney
4	chr7:104595600-104605600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:104595800-104601200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:104596200-104601200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:104597200-104608200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:104597800-104601000	Weak transcription	Thymus	Thymus
9	chr7:104597800-104601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:104597800-104606200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:104598000-104601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:104598000-104601200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:104598000-104601200	Weak transcription	NHEK	skin
14	chr7:104598000-104601600	Weak transcription	Right Atrium	heart
15	chr7:104598000-104602800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:104598000-104603000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:104598000-104603400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
19	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:104598200-104601000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:104598200-104601200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:104598200-104601200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:104598200-104601200	Weak transcription	Small Intestine	intestine
24	chr7:104598200-104601200	Weak transcription	HMEC	breast
25	chr7:104598200-104611600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:104598400-104601000	Weak transcription	GM12878-XiMat	blood
30	chr7:104598400-104601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:104598400-104607600	Weak transcription	HSMM	muscle
32	chr7:104599000-104601200	Weak transcription	Fetal Thymus	thymus
33	chr7:104599000-104617200	Weak transcription	Gastric	stomach
34	chr7:104599200-104601200	Weak transcription	K562	blood
35	chr7:104599200-104603800	Weak transcription	HepG2	liver
36	chr7:104599400-104601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:104599400-104601000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:104599400-104601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:104599400-104601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:104599400-104601000	Weak transcription	Fetal Intestine Large	intestine
41	chr7:104599400-104601200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:104599400-104601200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:104599400-104601200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:104599400-104601200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:104599400-104601200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:104599400-104601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:104599400-104601200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:104599400-104601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:104599400-104601200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:104599400-104601200	Weak transcription	Stomach Mucosa	stomach

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