Variant report

Variant	rs312171
Chromosome Location	chr12:105132380-105132381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105124334..105127781-chr12:105128206..105132825,4	K562	blood:
2	chr12:105126812..105130545-chr12:105132208..105136882,4	MCF-7	breast:
3	chr12:105130507..105133001-chr12:105142038..105144910,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10861274	0.86[ASN][1000 genomes]
rs11112178	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12426228	0.83[CHD][hapmap]
rs312154	0.81[CEU][hapmap]
rs312155	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs312163	0.84[CEU][hapmap]
rs312165	0.82[CHB][hapmap]
rs312166	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs312167	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs312169	0.81[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs312171	NT5DC3	cis	cerebellum	SCAN
rs312171	SLC5A8	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105123400-105136200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:105124000-105134400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:105124800-105133600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:105125000-105136000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:105125200-105137600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:105125200-105137800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:105126400-105133000	Enhancers	Fetal Thymus	thymus
8	chr12:105126400-105134200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:105126400-105134400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:105126400-105135400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:105127000-105137200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:105127600-105132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:105127600-105134400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:105128000-105141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:105128200-105132400	Enhancers	Fetal Stomach	stomach
16	chr12:105128200-105133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:105128200-105135200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:105128400-105135000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:105128600-105132600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:105128800-105133000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:105128800-105134200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:105129000-105139200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:105129200-105137400	Enhancers	Fetal Muscle Leg	muscle
24	chr12:105129400-105132800	Enhancers	GM12878-XiMat	blood
25	chr12:105129600-105133000	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:105129800-105132800	Enhancers	HSMMtube	muscle
27	chr12:105129800-105134200	Weak transcription	Colonic Mucosa	Colon
28	chr12:105129800-105135800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:105129800-105136000	Weak transcription	Right Ventricle	heart
30	chr12:105130000-105132400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:105130000-105132600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:105130000-105133000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:105130000-105133800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:105130000-105134000	Weak transcription	Right Atrium	heart
35	chr12:105130000-105136000	Weak transcription	Gastric	stomach
36	chr12:105130000-105136000	Weak transcription	Pancreas	Pancrea
37	chr12:105130000-105150800	Weak transcription	A549	lung
38	chr12:105130200-105136200	Weak transcription	Fetal Lung	lung
39	chr12:105130200-105150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:105130400-105136200	Weak transcription	Aorta	Aorta
41	chr12:105130600-105133600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:105130600-105133600	Weak transcription	NHLF	lung
43	chr12:105130600-105134400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:105130800-105132600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:105130800-105132800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:105130800-105133000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:105130800-105133400	Enhancers	Spleen	Spleen
48	chr12:105130800-105134400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:105131000-105132400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:105131000-105132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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