Variant report

Variant	rs11211336
Chromosome Location	chr1:47132520-47132521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47132421..47133961-chr1:47797739..47800236,2	K562	blood:
2	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
3	chr1:47132021..47134292-chr1:47182751..47186267,3	MCF-7	breast:
4	chr1:47124121..47126688-chr1:47131484..47133286,2	K562	blood:
5	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
6	chr1:47131372..47133587-chr1:47151853..47154733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228237	Chromatin interaction
ENSG00000162368	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11211355	1.00[AMR][1000 genomes]
rs11488213	1.00[AMR][1000 genomes]
rs12068750	1.00[AMR][1000 genomes]
rs12068807	1.00[AMR][1000 genomes]
rs12071983	1.00[AMR][1000 genomes]
rs12073003	1.00[AMR][1000 genomes]
rs12091020	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094471	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60434257	1.00[AMR][1000 genomes]
rs74072691	1.00[AMR][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
3	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
4	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
5	chr1:47109600-47132600	Weak transcription	HMEC	breast
6	chr1:47115600-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:47118000-47132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:47121000-47133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:47122600-47133000	Weak transcription	Gastric	stomach
10	chr1:47123600-47132600	Weak transcription	HUVEC	blood vessel
11	chr1:47123600-47133000	Weak transcription	HSMMtube	muscle
12	chr1:47125200-47133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:47125400-47133000	Weak transcription	NH-A	brain
14	chr1:47130400-47133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:47130600-47132800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:47130800-47132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:47130800-47132600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:47130800-47132600	Weak transcription	Right Atrium	heart
19	chr1:47130800-47132600	Weak transcription	NHEK	skin
20	chr1:47130800-47133000	Weak transcription	Esophagus	oesophagus
21	chr1:47131000-47132600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:47131000-47132600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:47131000-47132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:47131000-47132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:47131000-47132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:47131000-47132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:47131000-47132800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:47131000-47132800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:47131000-47132800	Weak transcription	Colonic Mucosa	Colon
30	chr1:47131000-47132800	Weak transcription	Psoas Muscle	Psoas
31	chr1:47131000-47132800	Weak transcription	K562	blood
32	chr1:47131000-47133000	Weak transcription	Pancreas	Pancrea
33	chr1:47131000-47133000	Weak transcription	HSMM	muscle
34	chr1:47131200-47132800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:47131200-47133000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:47131400-47132600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:47131400-47132600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:47131400-47132600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:47131400-47132600	Enhancers	Brain Substantia Nigra	brain
40	chr1:47131400-47132600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:47131600-47132600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:47131600-47132600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:47131600-47132600	Enhancers	Brain Angular Gyrus	brain
44	chr1:47131600-47132600	Weak transcription	NHDF-Ad	bronchial
45	chr1:47131600-47132600	Weak transcription	Osteobl	bone
46	chr1:47131600-47132800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:47131600-47132800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:47131600-47133000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:47131600-47133000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:47131600-47133000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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