Variant report

Variant	rs11754469
Chromosome Location	chr6:4950969-4950970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4950081..4953438-chr6:4957036..4959775,3	MCF-7	breast:
2	chr6:4941823..4943609-chr6:4950244..4952540,2	K562	blood:
3	chr6:4944039..4945928-chr6:4949779..4951541,2	MCF-7	breast:
4	chr6:4944383..4946508-chr6:4950113..4952220,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11754078	0.88[EUR][1000 genomes]
rs11756225	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557031	0.87[ASN][1000 genomes]
rs9328278	0.87[ASN][1000 genomes]
rs9502254	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504291	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:4942200-4957200	Strong transcription	Fetal Intestine Small	intestine
3	chr6:4942400-4956800	Weak transcription	Small Intestine	intestine
4	chr6:4942600-4953800	Weak transcription	Dnd41	blood
5	chr6:4942600-4956200	Strong transcription	Primary B cells from cord blood	blood
6	chr6:4942800-4951200	Weak transcription	Stomach Mucosa	stomach
7	chr6:4942800-4956600	Strong transcription	Primary T cells from cord blood	blood
8	chr6:4943000-4954600	Weak transcription	Fetal Kidney	kidney
9	chr6:4943200-4954000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:4943200-4955800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:4943200-4956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:4943200-4956800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:4943400-4953800	Weak transcription	NH-A	brain
14	chr6:4943400-4954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:4943400-4956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4943400-4956200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:4943400-4956200	Weak transcription	HUVEC	blood vessel
18	chr6:4943400-4957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:4943600-4954000	Weak transcription	HMEC	breast
20	chr6:4943600-4955600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:4943600-4955600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
23	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
24	chr6:4943800-4951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:4943800-4953000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:4943800-4954000	Weak transcription	HSMM	muscle
27	chr6:4943800-4956600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:4943800-4956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:4943800-4956800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:4944000-4957200	Strong transcription	Fetal Muscle Leg	muscle
31	chr6:4944000-4957400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:4944200-4955000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:4944200-4955200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:4944400-4954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:4944400-4954800	Strong transcription	Fetal Stomach	stomach
36	chr6:4944400-4956400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:4944400-4956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:4944400-4956600	Strong transcription	Placenta	Placenta
39	chr6:4944400-4956800	Strong transcription	Adipose Nuclei	Adipose
40	chr6:4944600-4956800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:4944600-4956800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:4944600-4956800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:4945000-4951000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:4945400-4951000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:4946200-4957200	Weak transcription	Fetal Lung	lung
46	chr6:4946200-4970800	Weak transcription	Fetal Brain Female	brain
47	chr6:4946400-4952800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:4946600-4952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:4946600-4952000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:4946600-4954200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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