Variant report

Variant	rs7338929
Chromosome Location	chr13:37601987-37601988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr13:37601976-37602053	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37582706..37585251-chr13:37601863..37604219,2	K562	blood:
2	chr13:37572417..37575277-chr13:37600927..37603814,2	K562	blood:

Variant related genes	Relation type
SUPT20H	TF binding region
ENSG00000102710	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1199962	0.90[CEU][hapmap]
rs1199963	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1199964	0.83[YRI][hapmap]
rs1199974	0.90[CEU][hapmap]
rs1199981	0.90[CEU][hapmap]
rs1199982	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1199983	0.90[CEU][hapmap]
rs1199984	0.90[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs1211337	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs12865199	0.87[EUR][1000 genomes]
rs1543738	0.90[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes]
rs17054796	0.83[AFR][1000 genomes]
rs17054831	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs1764483	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs1924418	0.88[LWK][hapmap];0.94[MKK][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1924419	0.95[EUR][1000 genomes]
rs1924420	0.94[EUR][1000 genomes]
rs1924421	0.82[EUR][1000 genomes]
rs1924422	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs1937761	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2093817	0.88[ASW][hapmap];0.90[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2147169	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2181787	0.91[EUR][1000 genomes]
rs2181788	0.91[CEU][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2186157	0.95[EUR][1000 genomes]
rs2323165	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2323392	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2769543	0.80[CEU][hapmap]
rs2785620	0.90[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs3858859	0.86[AMR][1000 genomes]
rs4291799	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs4941854	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4941855	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4941856	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943441	0.90[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap]
rs568992	0.81[EUR][1000 genomes]
rs587505	0.81[CEU][hapmap]
rs6563506	0.91[CEU][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs6563507	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6563508	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs6563509	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs675108	0.82[CEU][hapmap]
rs688280	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs71432622	0.82[EUR][1000 genomes]
rs7317750	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7320568	0.81[AFR][1000 genomes]
rs7320899	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7321129	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs7329314	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7334233	0.96[EUR][1000 genomes]
rs7358873	1.00[CHB][hapmap]
rs7982674	0.96[EUR][1000 genomes]
rs7983986	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7984730	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7989205	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7989380	0.90[CEU][hapmap]
rs7991057	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7991181	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7995985	0.85[AFR][1000 genomes]
rs7997310	0.88[ASW][hapmap];0.90[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8001662	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9285111	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs9315458	0.85[EUR][1000 genomes]
rs9315459	0.96[EUR][1000 genomes]
rs9531998	0.95[EUR][1000 genomes]
rs9532001	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs9532002	0.95[EUR][1000 genomes]
rs9532004	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs9532005	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9547707	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs9547712	0.97[EUR][1000 genomes]
rs9547715	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9547717	0.91[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs9547718	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9547721	0.86[AMR][1000 genomes]
rs9576153	0.96[EUR][1000 genomes]
rs9576154	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9594181	0.95[EUR][1000 genomes]
rs9603121	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37576200-37606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:37576400-37607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:37576600-37608400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:37576600-37623000	Strong transcription	Liver	Liver
10	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr13:37576800-37603000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:37577000-37608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:37577000-37608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr13:37577600-37623600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr13:37578200-37615200	Weak transcription	K562	blood
26	chr13:37580000-37608600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:37581800-37602200	Weak transcription	Psoas Muscle	Psoas
28	chr13:37581800-37622800	Strong transcription	Dnd41	blood
29	chr13:37582800-37609600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:37583000-37622800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:37583000-37623400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:37583200-37622600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:37584200-37602400	Weak transcription	Fetal Heart	heart
34	chr13:37585400-37616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr13:37586800-37623400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr13:37587000-37622200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:37587800-37618000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:37587800-37622600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr13:37588000-37611800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:37588400-37622400	Strong transcription	Adipose Nuclei	Adipose
41	chr13:37588600-37619600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:37588800-37603800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:37588800-37614200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:37589000-37605000	Weak transcription	Hela-S3	cervix
45	chr13:37589200-37625800	Strong transcription	Fetal Thymus	thymus
46	chr13:37589400-37622600	Strong transcription	Placenta	Placenta
47	chr13:37589600-37623800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr13:37589800-37603000	Strong transcription	Fetal Kidney	kidney
49	chr13:37589800-37608400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:37592200-37622600	Strong transcription	H1 Cell Line	embryonic stem cell

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