Variant report

Variant	rs11759443
Chromosome Location	chr6:13304134-13304135
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13282855..13286239-chr6:13300914..13304700,4	K562	blood:
2	chr6:13271006..13273760-chr6:13301939..13304225,2	K562	blood:
3	chr6:13303438..13305943-chr6:13327957..13331432,3	K562	blood:
4	chr6:13298717..13301545-chr6:13301638..13304448,3	K562	blood:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000112137	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948641	1.00[EUR][1000 genomes]
rs11754614	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11755431	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11756770	1.00[EUR][1000 genomes]
rs11756942	1.00[EUR][1000 genomes]
rs11757262	1.00[EUR][1000 genomes]
rs11758235	1.00[EUR][1000 genomes]
rs16873780	1.00[EUR][1000 genomes]
rs2439559	1.00[EUR][1000 genomes]
rs2496171	1.00[EUR][1000 genomes]
rs28495821	1.00[EUR][1000 genomes]
rs35114287	1.00[EUR][1000 genomes]
rs4452644	1.00[EUR][1000 genomes]
rs526661	1.00[EUR][1000 genomes]
rs6911459	1.00[EUR][1000 genomes]
rs6912427	1.00[EUR][1000 genomes]
rs6920849	1.00[EUR][1000 genomes]
rs6925659	1.00[EUR][1000 genomes]
rs73359121	1.00[EUR][1000 genomes]
rs754439	1.00[EUR][1000 genomes]
rs7742713	1.00[EUR][1000 genomes]
rs878560	1.00[EUR][1000 genomes]
rs9463696	1.00[EUR][1000 genomes]
rs9474025	1.00[EUR][1000 genomes]
rs9474036	1.00[EUR][1000 genomes]
rs9474040	1.00[EUR][1000 genomes]
rs9474061	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:13290400-13310400	Strong transcription	Dnd41	blood
5	chr6:13291200-13310400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:13291600-13305800	Strong transcription	Thymus	Thymus
7	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:13293200-13305400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:13295000-13304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:13295200-13305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:13298000-13309600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:13298200-13326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:13298800-13304600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:13299600-13306400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr6:13299600-13326600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:13299800-13326400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:13300000-13306400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:13300200-13309200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr6:13300200-13311800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:13300200-13327000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:13300600-13304600	Genic enhancers	HepG2	liver
24	chr6:13301000-13306400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:13301200-13325400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:13301800-13307600	Weak transcription	Gastric	stomach
27	chr6:13302200-13305000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:13302200-13305600	Enhancers	Fetal Heart	heart
29	chr6:13302400-13304200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr6:13302400-13304600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:13302400-13304600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:13302400-13305000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:13302400-13305400	Genic enhancers	Fetal Brain Female	brain
34	chr6:13302400-13306400	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:13302600-13304200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:13302600-13304200	Enhancers	Hela-S3	cervix
37	chr6:13302600-13304200	Genic enhancers	HSMM	muscle
38	chr6:13302600-13304600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:13302600-13304600	Enhancers	Adipose Nuclei	Adipose
40	chr6:13302600-13304800	Enhancers	Colonic Mucosa	Colon
41	chr6:13302600-13304800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr6:13302600-13304800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:13302600-13304800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:13302600-13305000	Genic enhancers	K562	blood
45	chr6:13302600-13305400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr6:13302600-13305400	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr6:13302600-13305600	Enhancers	HSMMtube	muscle
48	chr6:13302600-13305800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:13302600-13305800	Strong transcription	Pancreas	Pancrea
50	chr6:13302800-13304200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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