Variant report

Variant	rs2231453
Chromosome Location	chr11:33753603-33753604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
2	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
3	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
4	chr11:33750894..33752859-chr11:33753319..33757778,3	K562	blood:
5	chr11:33752958..33755089-chr11:33756315..33759381,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf41-3	chr11:33753570-33753785	l_457_chr11:33752692-33753785_testes

No data

Variant related genes	Relation type
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1402956	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522088	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924726	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2686246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831597	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs831598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831602	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831626	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33744000-33755400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:33744000-33755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:33744200-33755600	Weak transcription	Fetal Brain Female	brain
5	chr11:33744400-33756200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:33744600-33755400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:33744800-33754600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:33745400-33756200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:33746200-33754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:33746200-33756200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:33746400-33755200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:33746400-33755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:33746600-33753800	Weak transcription	Gastric	stomach
14	chr11:33746600-33754200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:33746600-33755400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:33746600-33755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:33746600-33755600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:33746600-33755800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:33746600-33756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:33746600-33756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:33746600-33756400	Weak transcription	Fetal Kidney	kidney
22	chr11:33746600-33756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:33746800-33754400	Weak transcription	Stomach Mucosa	stomach
24	chr11:33747000-33754000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:33747000-33756000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:33747000-33756000	Weak transcription	Fetal Stomach	stomach
27	chr11:33747200-33754600	Weak transcription	Spleen	Spleen
28	chr11:33747200-33755200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:33747200-33755400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:33747200-33755600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:33747200-33755600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:33747400-33754200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:33750600-33755200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:33750800-33757000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:33751200-33755600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:33751600-33754000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:33751600-33755400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:33751600-33755400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:33751800-33753800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:33751800-33754400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:33751800-33754400	Enhancers	Right Atrium	heart
42	chr11:33751800-33754800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:33752000-33754600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:33752000-33754800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
45	chr11:33752000-33757000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr11:33752200-33753800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:33752200-33754000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:33752200-33754800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:33752200-33755000	Genic enhancers	Osteobl	bone
50	chr11:33752200-33755200	Genic enhancers	NH-A	brain

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