Variant report

Variant	rs11038665
Chromosome Location	chr11:45830198-45830199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45817293..45819860-chr11:45829600..45831462,2	K562	blood:
2	chr11:45829927..45832919-chr11:45833481..45836427,3	K562	blood:
3	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
4	chr11:45828332..45831158-chr11:86511150..86513181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000255447	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11038666	0.90[ASN][1000 genomes]
rs4756027	0.95[ASN][1000 genomes]
rs4756028	0.92[ASN][1000 genomes]
rs7943306	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11038665	CTD-2210P24.4	cis	lung	GTEx
rs11038665	CTD-2210P24.4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45827400-45830200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
2	chr11:45827600-45831600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:45827800-45832400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:45828000-45830400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr11:45828000-45830600	Enhancers	Gastric	stomach
6	chr11:45828000-45831000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:45828000-45831200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr11:45828000-45831400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:45828000-45831800	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:45828000-45832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:45828000-45832400	Genic enhancers	Lung	lung
12	chr11:45828000-45833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:45828000-45834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:45828200-45831000	Enhancers	Fetal Brain Male	brain
17	chr11:45828200-45832000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:45828200-45833000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:45828400-45830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:45828400-45830600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:45828400-45833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:45828600-45831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:45828600-45831400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:45828600-45831800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:45828600-45831800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:45828600-45832000	Genic enhancers	Spleen	Spleen
27	chr11:45828600-45832200	Genic enhancers	Placenta	Placenta
28	chr11:45828600-45832400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:45828600-45834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:45828800-45832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:45829000-45830200	Genic enhancers	Fetal Intestine Small	intestine
32	chr11:45829000-45830400	Enhancers	Brain Hippocampus Middle	brain
33	chr11:45829200-45830800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:45829200-45830800	Genic enhancers	Left Ventricle	heart
35	chr11:45829200-45832400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:45829200-45833000	Strong transcription	A549	lung
37	chr11:45829200-45835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:45829400-45830200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:45829400-45830200	Weak transcription	Fetal Intestine Large	intestine
40	chr11:45829400-45830600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:45829400-45830600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:45829400-45830600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:45829400-45831000	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr11:45829400-45831800	Weak transcription	Fetal Thymus	thymus
45	chr11:45829400-45832000	Weak transcription	Fetal Lung	lung
46	chr11:45829400-45833000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:45829400-45833600	Weak transcription	NHDF-Ad	bronchial
48	chr11:45829600-45830200	Enhancers	Brain Germinal Matrix	brain
49	chr11:45829600-45830200	Genic enhancers	Hela-S3	cervix
50	chr11:45829600-45830400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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