Variant report

Variant	rs11717154
Chromosome Location	chr3:49361435-49361436
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49361253..49363551-chr3:49450285..49452190,2	K562	blood:

Variant related genes	Relation type
ENSG00000067560	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11552757	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11925136	1.00[YRI][hapmap]
rs12637561	1.00[YRI][hapmap]
rs35867420	1.00[LWK][hapmap]

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	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49312600-49375800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:49314800-49364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49315200-49373600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:49315200-49375000	Strong transcription	Fetal Stomach	stomach
5	chr3:49315400-49370400	Strong transcription	Fetal Thymus	thymus
6	chr3:49316200-49370200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:49317200-49371800	Strong transcription	Fetal Intestine Small	intestine
8	chr3:49317400-49369400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:49317400-49370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:49319200-49374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:49319600-49371800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:49320200-49375000	Strong transcription	Thymus	Thymus
13	chr3:49320800-49368000	Strong transcription	Primary T cells from cord blood	blood
14	chr3:49321800-49373600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:49326800-49373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:49326800-49375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:49333600-49369600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:49335000-49365200	Strong transcription	Spleen	Spleen
19	chr3:49335000-49369400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr3:49335000-49375000	Strong transcription	Placenta	Placenta
21	chr3:49335200-49365200	Strong transcription	Lung	lung
22	chr3:49335200-49369800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:49335200-49375200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:49335400-49365200	Strong transcription	Fetal Muscle Leg	muscle
25	chr3:49336200-49365600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:49338200-49361600	Weak transcription	Stomach Mucosa	stomach
27	chr3:49338200-49375000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:49348600-49361800	Weak transcription	Fetal Brain Male	brain
29	chr3:49349000-49362400	Weak transcription	Fetal Heart	heart
30	chr3:49350400-49367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:49350400-49370200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:49350400-49374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:49350600-49365200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:49350600-49365200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:49350600-49365400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:49350600-49365400	Strong transcription	Fetal Intestine Large	intestine
37	chr3:49350600-49369800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:49350600-49370600	Strong transcription	Adipose Nuclei	Adipose
39	chr3:49350800-49368000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:49350800-49370400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:49351000-49365400	Strong transcription	Brain Angular Gyrus	brain
42	chr3:49351400-49365200	Strong transcription	Fetal Brain Female	brain
43	chr3:49351400-49365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:49351400-49365600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:49351400-49365600	Strong transcription	Liver	Liver
46	chr3:49351400-49367800	Strong transcription	Brain Hippocampus Middle	brain
47	chr3:49351400-49373000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr3:49351400-49374200	Strong transcription	Dnd41	blood
49	chr3:49351600-49365200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:49351600-49373400	Strong transcription	Rectal Mucosa Donor 29	rectum

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