Variant report

Variant	rs7328589
Chromosome Location	chr13:52327376-52327377
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52327041..52329253-chr13:52330642..52332442,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17075902	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3803201	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825410	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4075628	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs4625625	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4941703	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4941710	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4943005	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4943018	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7328695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333623	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs745374	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7986066	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9563066	0.80[AMR][1000 genomes]
rs9563067	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568644	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes]
rs9568647	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568649	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568650	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568653	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9805172	0.81[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
3	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:52315600-52328600	Weak transcription	Brain Germinal Matrix	brain
5	chr13:52315600-52332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:52316200-52332200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:52316400-52329400	Weak transcription	Brain Anterior Caudate	brain
8	chr13:52318400-52334200	Weak transcription	Fetal Brain Male	brain
9	chr13:52321000-52329600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:52322000-52334400	Weak transcription	Colonic Mucosa	Colon
11	chr13:52322400-52329600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:52322600-52329000	Weak transcription	Fetal Stomach	stomach
13	chr13:52322600-52329400	Weak transcription	Fetal Intestine Large	intestine
14	chr13:52322600-52330000	Weak transcription	Ovary	ovary
15	chr13:52322600-52330400	Weak transcription	Right Ventricle	heart
16	chr13:52322600-52332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:52322600-52334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:52322600-52337000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:52322600-52338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:52322600-52338200	Weak transcription	Stomach Mucosa	stomach
21	chr13:52322600-52342200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:52322600-52342200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr13:52322800-52337600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:52322800-52338200	Weak transcription	HUVEC	blood vessel
25	chr13:52323000-52328400	Weak transcription	GM12878-XiMat	blood
26	chr13:52323000-52330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:52323000-52330400	Weak transcription	Fetal Intestine Small	intestine
28	chr13:52323000-52330600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:52323000-52333600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:52323000-52336400	Weak transcription	K562	blood
31	chr13:52323000-52336600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:52323000-52337200	Strong transcription	Primary B cells from cord blood	blood
33	chr13:52323000-52343400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr13:52323200-52327400	Strong transcription	NH-A	brain
35	chr13:52323200-52329200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr13:52323200-52330400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:52323200-52330400	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:52323200-52332200	Weak transcription	A549	lung
39	chr13:52323200-52334600	Strong transcription	HSMM	muscle
40	chr13:52323200-52335000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:52323200-52335400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:52323200-52336800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr13:52323200-52337600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:52323200-52338200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:52323200-52341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr13:52323400-52327600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:52323600-52330800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:52323600-52332200	Weak transcription	Psoas Muscle	Psoas
49	chr13:52323800-52330600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:52324200-52335400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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