Variant report

Variant	rs512948
Chromosome Location	chr13:52374489-52374490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
2	chr13:52370681..52375031-chr13:52376464..52379694,5	MCF-7	breast:
3	chr13:52018094..52022677-chr13:52372032..52375431,6	MCF-7	breast:
4	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2734	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2760302	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2760303	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2760304	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2773267	1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2773268	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2773269	1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs471107	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs518210	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs541434	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs732004	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535761	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv1840020	chr13:52345838-52388765	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:52346400-52376000	Weak transcription	Thymus	Thymus
4	chr13:52348200-52375600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:52348200-52375600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:52358600-52375600	Weak transcription	Colonic Mucosa	Colon
7	chr13:52359000-52375600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:52360600-52376000	Weak transcription	Gastric	stomach
9	chr13:52360800-52375600	Weak transcription	Fetal Intestine Large	intestine
10	chr13:52361000-52374800	Weak transcription	Stomach Mucosa	stomach
11	chr13:52361000-52375600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:52361600-52374600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:52361600-52374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:52361600-52375000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:52361600-52375800	Weak transcription	Brain Germinal Matrix	brain
16	chr13:52361600-52376400	Weak transcription	Fetal Brain Female	brain
17	chr13:52361800-52374600	Weak transcription	Psoas Muscle	Psoas
18	chr13:52361800-52376200	Weak transcription	Fetal Brain Male	brain
19	chr13:52363200-52374600	Weak transcription	Left Ventricle	heart
20	chr13:52364000-52374600	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:52364000-52374800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:52364200-52375800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr13:52366000-52375800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:52368200-52377000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:52368400-52375600	Weak transcription	HSMMtube	muscle
26	chr13:52368400-52375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:52368400-52376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:52368600-52375800	Weak transcription	Esophagus	oesophagus
29	chr13:52368800-52375800	Weak transcription	Fetal Thymus	thymus
30	chr13:52369400-52375800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:52370200-52376000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr13:52370200-52376600	Weak transcription	Primary B cells from cord blood	blood
33	chr13:52371200-52375600	Weak transcription	Fetal Heart	heart
34	chr13:52371400-52375600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:52371400-52376000	Weak transcription	Aorta	Aorta
36	chr13:52371600-52375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr13:52371800-52374600	Weak transcription	Lung	lung
38	chr13:52372000-52374600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:52372000-52374600	Weak transcription	Brain Angular Gyrus	brain
40	chr13:52372000-52374600	Weak transcription	Right Ventricle	heart
41	chr13:52372000-52374800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr13:52372000-52375600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:52372000-52375600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:52372000-52375600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr13:52372000-52375600	Weak transcription	HMEC	breast
46	chr13:52372000-52375800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:52372000-52375800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:52372000-52375800	Weak transcription	GM12878-XiMat	blood
49	chr13:52372000-52376000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr13:52372000-52377000	Weak transcription	H9 Cell Line	embryonic stem cell

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