Variant report

Variant	rs8688
Chromosome Location	chr14:71139279-71139280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10131858	0.82[CEU][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	esv1831100	chr14:71132235-71139550	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8688	TTC9	cis	cerebellar cortex	BrainEAC
rs8688	TTC9	cis	brain	BrainEAC

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71112800-71140000	Weak transcription	Fetal Brain Male	brain
2	chr14:71128400-71140800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:71131200-71139600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:71133200-71140400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:71133200-71140600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:71133200-71140600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:71133200-71140600	Weak transcription	Fetal Thymus	thymus
8	chr14:71133200-71144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:71133200-71150600	Weak transcription	Pancreas	Pancrea
10	chr14:71133200-71151000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:71133200-71173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:71133400-71141600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:71133600-71140600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:71133600-71143000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr14:71133600-71143800	Weak transcription	Small Intestine	intestine
16	chr14:71133800-71141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:71134000-71143400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:71134200-71140200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:71134200-71140200	Strong transcription	Fetal Brain Female	brain
20	chr14:71134200-71142800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:71134400-71139800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:71134400-71141000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:71134400-71141000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:71134400-71141400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:71134600-71158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:71134800-71140400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr14:71135000-71141000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:71135200-71144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:71135800-71140800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:71136000-71141000	Strong transcription	Primary T cells from cord blood	blood
31	chr14:71136200-71143000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:71136400-71139800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:71136400-71140200	Strong transcription	Brain Germinal Matrix	brain
34	chr14:71136600-71139400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:71136600-71140000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:71136800-71139600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:71137000-71139400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:71137000-71141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:71137000-71141400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:71137200-71139400	Strong transcription	Primary B cells from cord blood	blood
41	chr14:71137200-71140800	Strong transcription	GM12878-XiMat	blood
42	chr14:71137600-71139400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:71137600-71139800	Enhancers	HMEC	breast
44	chr14:71138000-71142800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:71138200-71140600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:71138400-71144000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:71138400-71146200	Weak transcription	Spleen	Spleen
48	chr14:71138600-71146400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:71138800-71140000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:71138800-71142400	Weak transcription	Lung	lung

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