Variant report

Variant	rs7329514
Chromosome Location	chr13:95916800-95916801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95912252..95914596-chr13:95915357..95918104,2	K562	blood:
2	chr13:95911255..95914596-chr13:95915357..95918944,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2027444	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2389226	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2389227	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2389228	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773861	0.91[ASW][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773862	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7320383	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7322029	0.92[EUR][1000 genomes]
rs7335275	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7982955	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8000333	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9524866	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9556467	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv562769	chr13:95910726-95918063	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:95896200-95923400	Weak transcription	Ovary	ovary
4	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
7	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:95900000-95918800	Weak transcription	Lung	lung
10	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:95907000-95917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:95908000-95926600	Weak transcription	Gastric	stomach
15	chr13:95908800-95917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:95908800-95917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:95908800-95917800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:95908800-95918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:95908800-95919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:95908800-95919400	Weak transcription	NH-A	brain
21	chr13:95908800-95919600	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:95908800-95919600	Weak transcription	HSMMtube	muscle
23	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
24	chr13:95909000-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:95909000-95919400	Weak transcription	HSMM	muscle
26	chr13:95909200-95918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:95909200-95919600	Weak transcription	NHEK	skin
28	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:95910400-95918600	Weak transcription	NHDF-Ad	bronchial
30	chr13:95910600-95918000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:95911400-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:95911400-95918000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:95912000-95917800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95912400-95917000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:95913600-95920000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr13:95914600-95918200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:95914600-95918200	Weak transcription	Fetal Intestine Large	intestine
39	chr13:95915000-95916800	Genic enhancers	A549	lung
40	chr13:95915400-95918600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:95915600-95916800	Enhancers	GM12878-XiMat	blood
42	chr13:95915600-95918400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:95915800-95918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:95916200-95916800	Strong transcription	NHLF	lung
45	chr13:95916400-95922000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr13:95916600-95916800	Genic enhancers	K562	blood
47	chr13:95916600-95917000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:95916800-95917000	Weak transcription	GM12878-XiMat	blood
49	chr13:95916800-95917600	Weak transcription	NHLF	lung
50	chr13:95916800-95917800	Strong transcription	A549	lung

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