Variant report

Variant	rs2031994
Chromosome Location	chr13:52406553-52406554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52388956..52389914-chr13:52406314..52407314,7	MCF-7	breast:
2	chr13:51699788..51700708-chr13:52406162..52406892,2	K562	blood:
3	chr13:52402539..52404938-chr13:52405246..52407174,2	MCF-7	breast:
4	chr13:52389353..52390463-chr13:52406266..52407235,5	MCF-7	breast:
5	chr13:52405263..52408313-chr13:52419489..52422103,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10220242	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12584414	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12585859	0.91[CEU][hapmap]
rs4354822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943028	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs8002015	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs878936	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9591433	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9596586	0.91[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9596587	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9634846	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv900081	chr13:52406404-52426096	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52393600-52418600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:52401200-52407600	Weak transcription	Lung	lung
3	chr13:52401600-52419200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:52401800-52406600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:52402800-52412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:52404400-52410200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:52404800-52413800	Weak transcription	Fetal Intestine Small	intestine
8	chr13:52405600-52406800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr13:52405600-52407400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr13:52405800-52406800	Enhancers	Primary T cells from cord blood	blood
11	chr13:52406000-52406800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr13:52406000-52407000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:52406000-52407000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:52406000-52407000	Enhancers	Fetal Heart	heart
15	chr13:52406000-52407400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr13:52406000-52409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:52406200-52406600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:52406200-52406600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr13:52406200-52406600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:52406200-52406800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:52406200-52406800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr13:52406200-52406800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:52406200-52406800	Enhancers	Fetal Thymus	thymus
24	chr13:52406200-52407000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:52406200-52407000	Enhancers	Left Ventricle	heart
26	chr13:52406200-52407200	Enhancers	Primary B cells from cord blood	blood
27	chr13:52406200-52407200	Enhancers	Primary B cells from peripheral blood	blood
28	chr13:52406200-52407200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr13:52406200-52407200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:52406200-52408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:52406200-52409200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:52406400-52406600	Enhancers	Duodenum Mucosa	Duodenum
33	chr13:52406400-52406800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr13:52406400-52407000	Enhancers	GM12878-XiMat	blood
35	chr13:52406400-52407400	Enhancers	Primary hematopoietic stem cells	blood

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