Variant report

Variant	rs12303313
Chromosome Location	chr12:63167893-63167894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11174637	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174638	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174639	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12303297	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12310630	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12311698	0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17098337	1.00[EUR][1000 genomes]
rs56267727	1.00[EUR][1000 genomes]
rs58310965	1.00[EUR][1000 genomes]
rs58490000	1.00[EUR][1000 genomes]
rs7311838	1.00[EUR][1000 genomes]
rs74096889	1.00[EUR][1000 genomes]
rs74098826	1.00[EUR][1000 genomes]

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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv983337	chr12:63167541-63169131	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:63161200-63168200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
8	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:63162000-63170400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:63162200-63174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:63163200-63168200	Weak transcription	HepG2	liver
12	chr12:63163600-63178400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:63163800-63175000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:63164600-63175200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:63164800-63168000	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:63164800-63170400	Weak transcription	Gastric	stomach
17	chr12:63164800-63177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:63164800-63177600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:63164800-63177800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:63165600-63182000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:63166000-63177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:63166400-63170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:63166400-63171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:63166600-63175400	Weak transcription	A549	lung
25	chr12:63166600-63177800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:63166600-63179600	Weak transcription	NHLF	lung
27	chr12:63166800-63168400	Enhancers	Left Ventricle	heart
28	chr12:63167000-63177800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:63167200-63168000	Enhancers	Small Intestine	intestine
30	chr12:63167400-63168200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:63167400-63168200	Enhancers	Fetal Intestine Small	intestine
32	chr12:63167600-63168000	Enhancers	Fetal Intestine Large	intestine
33	chr12:63167600-63168000	Enhancers	Stomach Mucosa	stomach
34	chr12:63167600-63168400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:63167600-63171000	Weak transcription	Pancreas	Pancrea
36	chr12:63167800-63174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:63167800-63177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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