Variant report

Variant	rs11839379
Chromosome Location	chr13:30528578-30528579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30522245..30525192-chr13:30528354..30530435,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBL3-6	chr13:30528302-30528980	l_804_chr13:30525362-30528980_brain

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10492461	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11839078	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11840419	0.96[EUR][1000 genomes]
rs11840423	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11841787	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11842198	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11842819	0.96[EUR][1000 genomes]
rs1547161	0.96[EUR][1000 genomes]
rs17074166	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17074176	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1807336	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4578499	0.93[EUR][1000 genomes]
rs496557	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs524939	0.96[EUR][1000 genomes]
rs525768	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs552465	0.96[EUR][1000 genomes]
rs638278	0.91[EUR][1000 genomes]
rs729285	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs73159369	0.86[EUR][1000 genomes]
rs73159387	0.83[EUR][1000 genomes]
rs73450391	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs745251	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs745252	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9508611	0.83[EUR][1000 genomes]
rs9508613	0.83[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:30523200-30529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30527600-30529200	Enhancers	Fetal Thymus	thymus
4	chr13:30527600-30529600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:30527800-30528800	Enhancers	Adipose Nuclei	Adipose
6	chr13:30528000-30528800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr13:30528000-30529000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr13:30528000-30529000	Enhancers	Primary hematopoietic stem cells	blood
9	chr13:30528000-30529000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr13:30528000-30529000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr13:30528000-30529200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr13:30528000-30529600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr13:30528200-30528600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:30528200-30528600	Flanking Active TSS	Thymus	Thymus
15	chr13:30528200-30528800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:30528200-30528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:30528200-30528800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:30528200-30528800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr13:30528200-30529000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr13:30528200-30529000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30528200-30529000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr13:30528200-30529200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:30528400-30528600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr13:30528400-30528600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:30528400-30528600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr13:30528400-30528600	Enhancers	Liver	Liver
27	chr13:30528400-30528600	Active TSS	Duodenum Mucosa	Duodenum
28	chr13:30528400-30528600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr13:30528400-30528800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr13:30528400-30528800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr13:30528400-30528800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr13:30528400-30528800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:30528400-30528800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:30528400-30528800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr13:30528400-30528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:30528400-30529000	Enhancers	Spleen	Spleen

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