Variant report

Variant	rs884273
Chromosome Location	chr12:117222140-117222141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117217400..117220428-chr12:117221372..117224735,3	K562	blood:
2	chr12:117214324..117217304-chr12:117220516..117222283,2	K562	blood:
3	chr12:117217400..117220350-chr12:117221372..117223420,2	K562	blood:

Variant related genes	Relation type
ENSG00000201382	Chromatin interaction

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

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

rs_ID	r²[population]
rs11068246	1.00[CEU][hapmap]
rs11833084	0.86[EUR][1000 genomes]
rs12316811	1.00[CEU][hapmap]
rs12321592	1.00[CEU][hapmap]
rs16947046	1.00[CEU][hapmap]
rs16947122	1.00[CEU][hapmap]
rs16947131	1.00[CEU][hapmap]
rs7133142	1.00[CEU][hapmap]
rs7305313	1.00[CEU][hapmap]
rs7963012	1.00[CEU][hapmap]

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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
2	chr12:117177400-117225800	Weak transcription	HepG2	liver
3	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
4	chr12:117198200-117233600	Weak transcription	Fetal Stomach	stomach
5	chr12:117198200-117236600	Weak transcription	A549	lung
6	chr12:117198600-117223800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:117198600-117233600	Weak transcription	Right Atrium	heart
8	chr12:117209800-117232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:117213400-117226600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:117213800-117223400	Weak transcription	Placenta	Placenta
11	chr12:117216200-117222800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:117216200-117225400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:117216600-117226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117216800-117223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:117216800-117223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:117216800-117223600	Strong transcription	Fetal Brain Female	brain
17	chr12:117216800-117224400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:117216800-117225400	Strong transcription	Brain Germinal Matrix	brain
19	chr12:117216800-117225600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:117216800-117225600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:117216800-117229600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:117217000-117222200	Strong transcription	Thymus	Thymus
23	chr12:117217000-117222400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:117217000-117223400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr12:117217400-117224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:117217400-117226200	Weak transcription	Aorta	Aorta
27	chr12:117217600-117226400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:117218000-117225800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:117218200-117224000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:117219000-117224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:117219000-117226000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:117219200-117225600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:117219600-117224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:117219600-117225200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:117220200-117228000	Weak transcription	HSMMtube	muscle
36	chr12:117220400-117222200	Strong transcription	Fetal Thymus	thymus
37	chr12:117220400-117223800	Strong transcription	GM12878-XiMat	blood
38	chr12:117220600-117222400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:117220600-117222800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr12:117220600-117223600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr12:117220800-117222600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:117220800-117223000	Strong transcription	Primary B cells from cord blood	blood
43	chr12:117220800-117224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:117221000-117222200	Strong transcription	Fetal Brain Male	brain
45	chr12:117221000-117222600	Strong transcription	Brain Angular Gyrus	brain
46	chr12:117221000-117222600	Strong transcription	Brain Anterior Caudate	brain
47	chr12:117221000-117223000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:117221200-117222800	Strong transcription	Primary T cells from cord blood	blood
49	chr12:117221200-117222800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:117221200-117236800	Weak transcription	Brain Hippocampus Middle	brain

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